Input: What is (are) abdominal wall defect ?

Output: An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.  Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) and they may be born prematurely. Individuals with omphalocele frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often associated with omphalocele because the abdominal organs normally provide a framework for chest wall growth. When those organs are misplaced, the chest wall does not form properly, providing a smaller than normal space for the lungs to develop. As a result, many infants with omphalocele have respiratory insufficiency and may need to be supported with a machine to help them breathe (mechanical ventilation). Rarely, affected individuals who have breathing problems in infancy experience recurrent lung infections or asthma later in life. Affected infants often have gastrointestinal problems including a backflow of stomach acids into the esophagus (gastroesophageal reflux) and feeding difficulty; these problems can persist even after treatment of omphalocele. Large omphaloceles or those associated with multiple additional health problems are more often associated with fetal death than cases in which omphalocele occurs alone (isolated).  Omphalocele is a feature of many genetic syndromes. Nearly half of individuals with omphalocele have a condition caused by an extra copy of one of the chromosomes in each of their cells (trisomy). Up to one-third of people born with omphalocele have a genetic condition called Beckwith-Wiedemann syndrome. Affected individuals may have additional signs and symptoms associated with these genetic conditions.  Individuals who have gastroschisis rarely have other birth defects and seldom have chromosome abnormalities or a genetic condition. Most affected individuals experience intrauterine growth retardation and are small at birth; many affected infants are born prematurely.  With gastroschisis, the protruding organs are not covered by a protective membrane and are susceptible to damage due to direct contact with amniotic fluid in the womb. Components of the amniotic fluid may trigger immune responses and inflammatory reactions against the intestines that can damage the tissue. Constriction around exposed organs at the abdominal wall opening late in fetal development may also contribute to organ injury. Intestinal damage causes impairment of the muscle contractions that move food through the digestive tract (peristalsis) in most children with gastroschisis. In these individuals, peristalsis usually improves in a few months and intestinal muscle contractions normalize. Rarely, children with gastroschisis have a narrowing or absence of a portion of intestine (intestinal atresia) or twisting of the intestine. After birth, these intestinal malformations can lead to problems with digestive function, further loss of intestinal tissue, and a condition called short bowel syndrome that occurs when areas of the small intestine are missing, causing dehydration and poor absorption of nutrients. Depending on the severity of the condition, intravenous feedings (parenteral nutrition) may be required.  The health of an individual with gastroschisis depends largely on how damaged his or her intestine was before birth. When the abdominal wall defect is repaired and normal intestinal function is recovered, the vast majority of affected individuals have no health problems related to the repaired defect later in life. </s>


Input: How many people are affected by abdominal wall defect ?

Output: Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do not survive to term (miscarriages and stillbirths). </s>


Input: What are the genetic changes related to abdominal wall defect ?

Output: No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development.  Omphalocele occurs during an error in digestive tract development. During the formation of the abdominal cavity in the sixth to tenth weeks of fetal development, the intestines normally protrude into the umbilical cord but recede back into the abdomen as development continues. Omphalocele occurs when the intestines do not recede back into the abdomen, but remain in the umbilical cord. Other abdominal organs can also protrude through this opening, resulting in the varied organ involvement that occurs in omphalocele.  The error that leads to gastroschisis formation is unknown. It is thought to be either a disruption in the blood flow to the digestive tract or a lack of development or injury to gastrointestinal tissue early in fetal development. For reasons that are unknown, women under the age of 20 are at the greatest risk of having a baby with gastroschisis. Other risk factors in pregnancy may include taking medications that constrict the blood vessels (called vasoconstrictive drugs) or smoking, although these risk factors have not been confirmed. </s>


Input: Is abdominal wall defect inherited ?

Output: Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder.  When an abdominal wall defect, most often omphalocele, is a feature of a genetic condition, it is inherited in the pattern of that condition. </s>


Input: What are the treatments for abdominal wall defect ?

Output: These resources address the diagnosis or management of abdominal wall defect:  - Cincinnati Children's Hospital: Gastroschisis  - Cincinnati Children's Hospital: Omphalocele  - Cleveland Clinic: Omphalocele  - Genetic Testing Registry: Congenital omphalocele  - Great Ormond Street Hospital for Children (UK): Gastroschisis  - MedlinePlus Encyclopedia: Gastroschisis Repair  - MedlinePlus Encyclopedia: Gastroschisis Repair--Series (images)  - MedlinePlus Encyclopedia: Omphalocele Repair  - MedlinePlus Encyclopedia: Omphalocele Repair--Series (images)  - Seattle Children's Hospital: Gastroschisis Treatment Options  - Seattle Children's Hospital: Omphalocele Treatment Options  - The Children's Hospital of Philadelphia: Diagnosis and Treatment of Gastroschisis  - The Children's Hospital of Philadelphia: Overview and Treatment of Omphalocele  - University of California, San Francisco Fetal Treatment Center: Gastroschisis  - University of California, San Francisco Fetal Treatment Center: Omphalocele   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) REN-related kidney disease ?

Output: REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70.  People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence.  Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties. </s>


Input: How many people are affected by REN-related kidney disease ?

Output: REN-related kidney disease is a rare condition. At least three families with this condition have been identified. </s>


Input: What are the genetic changes related to REN-related kidney disease ?

Output: Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body.  Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. These kidney cells gradually die off, which causes progressive kidney disease. </s>


Input: Is REN-related kidney disease inherited ?

Output: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. </s>


Input: What are the treatments for REN-related kidney disease ?

Output: These resources address the diagnosis or management of REN-related kidney disease:  - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN)  - Genetic Testing Registry: Hyperuricemic nephropathy, familial juvenile, 2  - MedlinePlus Encyclopedia: Hyperkalemia  - MedlinePlus Encyclopedia: Renin   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) familial hyperaldosteronism ?

Output: Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.  Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.  There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found. </s>


Input: How many people are affected by familial hyperaldosteronism ?

Output: The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism. </s>


Input: What are the genetic changes related to familial hyperaldosteronism ?

Output: The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands.  The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I.  Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III.  The genetic cause of familial hyperaldosteronism type II is unknown. </s>


Input: Is familial hyperaldosteronism inherited ?

Output: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. </s>


Input: What are the treatments for familial hyperaldosteronism ?

Output: These resources address the diagnosis or management of familial hyperaldosteronism:  - Genetic Testing Registry: Familial hyperaldosteronism type 1  - Genetic Testing Registry: Familial hyperaldosteronism type 3  - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism  - International Registry for Glucocorticoid-Remediable Aldosteronism  - MedlinePlus Encyclopedia: Aldosterone   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) acral peeling skin syndrome ?

Output: Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems. </s>


Input: How many people are affected by acral peeling skin syndrome ?

Output: Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed. </s>


Input: What are the genetic changes related to acral peeling skin syndrome ?

Output: Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment.  TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of this protein. A shortage of transglutaminase 5 weakens the cornified cell envelope, which allows the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet probably because those areas tend to be heavily exposed to moisture and friction. </s>


Input: Is acral peeling skin syndrome inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for acral peeling skin syndrome ?

Output: These resources address the diagnosis or management of acral peeling skin syndrome:  - Birmingham Children's Hospital, National Health Service (UK)  - Genetic Testing Registry: Peeling skin syndrome, acral type   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) otospondylomegaepiphyseal dysplasia ?

Output: Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymller syndrome.  People with OSMED are often shorter than average because the bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life.  Severe high-tone hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Virtually all affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of OSMED tend to diminish during childhood, but other signs and symptoms, such as hearing loss and joint pain, persist into adulthood. </s>


Input: How many people are affected by otospondylomegaepiphyseal dysplasia ?

Output: This condition is rare; the prevalence is unknown. Only a few families with OSMED have been reported worldwide. </s>


Input: What are the genetic changes related to otospondylomegaepiphyseal dysplasia ?

Output: Mutations in the COL11A2 gene cause OSMED. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL11A2 gene that cause OSMED disrupt the production or assembly of type XI collagen molecules. The loss of type XI collagen prevents bones and other connective tissues from developing properly. </s>


Input: Is otospondylomegaepiphyseal dysplasia inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for otospondylomegaepiphyseal dysplasia ?

Output: These resources address the diagnosis or management of OSMED:  - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) X-linked severe combined immunodeficiency ?

Output: X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy. </s>


Input: How many people are affected by X-linked severe combined immunodeficiency ?

Output: X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns. </s>


Input: What are the genetic changes related to X-linked severe combined immunodeficiency ?

Output: Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections. </s>


Input: Is X-linked severe combined immunodeficiency inherited ?

Output: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. </s>


Input: What are the treatments for X-linked severe combined immunodeficiency ?

Output: These resources address the diagnosis or management of X-linked SCID:  - Baby's First Test: Severe Combined Immunodeficiency  - Gene Review: Gene Review: X-Linked Severe Combined Immunodeficiency  - Genetic Testing Registry: X-linked severe combined immunodeficiency  - MedlinePlus Encyclopedia: Immunodeficiency Disorders  - National Marrow Donor Program: Severe Combined Immunodeficiency and Transplant   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) Czech dysplasia ?

Output: Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis). Some people with Czech dysplasia have progressive hearing loss. </s>


Input: How many people are affected by Czech dysplasia ?

Output: The prevalence of Czech dysplasia is unknown; at least 11 families have been affected. Most of these families reside in the Czech Republic. </s>


Input: What are the genetic changes related to Czech dysplasia ?

Output: Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. </s>


Input: Is Czech dysplasia inherited ?

Output: Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder.  All known individuals with Czech dysplasia inherited the mutation from a parent with the condition. </s>


Input: What are the treatments for Czech dysplasia ?

Output: These resources address the diagnosis or management of Czech dysplasia:  - Genetic Testing Registry: Czech dysplasia metatarsal type   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) Rett syndrome ?

Output: Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.  Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form. </s>


Input: How many people are affected by Rett syndrome ?

Output: This condition affects an estimated 1 in 8,500 females. </s>


Input: What are the genetic changes related to Rett syndrome ?

Output: Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). It may also be necessary for the normal function of other types of brain cells.  The MeCP2 protein is thought to help regulate the activity of genes in the brain. This protein may also control the production of different versions of certain proteins in brain cells. Mutations in the MECP2 gene alter the MeCP2 protein or result in the production of less protein, which appears to disrupt the normal function of neurons and other cells in the brain. Specifically, studies suggest that changes in the MeCP2 protein may reduce the activity of certain neurons and impair their ability to communicate with one another. It is unclear how these changes lead to the specific features of Rett syndrome.  Several conditions with signs and symptoms overlapping those of Rett syndrome have been found to result from mutations in other genes. These conditions, including FOXG1 syndrome, were previously thought to be variant forms of Rett syndrome. However, doctors and researchers have identified some important differences between the conditions, so they are now usually considered to be separate disorders. </s>


Input: Is Rett syndrome inherited ?

Output: In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene.  A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome and variants caused by MECP2 gene mutations have an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.  Males with mutations in the MECP2 gene often die in infancy. However, a small number of males with a genetic change involving MECP2 have developed signs and symptoms similar to those of Rett syndrome, including intellectual disability, seizures, and movement problems. In males, this condition is described as MECP2-related severe neonatal encephalopathy. </s>


Input: What are the treatments for Rett syndrome ?

Output: These resources address the diagnosis or management of Rett syndrome:  - Boston Children's Hospital  - Cleveland Clinic  - Gene Review: Gene Review: MECP2-Related Disorders  - Genetic Testing Registry: Rett syndrome  - International Rett Syndrome Foundation: Living with Rett Syndrome  - MedlinePlus Encyclopedia: Rett Syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) congenital afibrinogenemia ?

Output: Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages. </s>


Input: How many people are affected by congenital afibrinogenemia ?

Output: Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns. </s>


Input: What are the genetic changes related to congenital afibrinogenemia ?

Output: Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot.  Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. Most FGA, FGB, and FGG gene mutations that cause this condition result in a premature stop signal in the instructions for making the respective protein. If any protein is made, it is nonfunctional. When any one subunit is missing, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia. </s>


Input: Is congenital afibrinogenemia inherited ?

Output: Congenital afibrinogenemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. The parents have about half the normal level of fibrinogen in their blood but typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for congenital afibrinogenemia ?

Output: These resources address the diagnosis or management of congenital afibrinogenemia:  - Genetic Testing Registry: Hereditary factor I deficiency disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) GM1 gangliosidosis ?

Output: GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.  The signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually become apparent by the age of 6 months. Infants with this form of the disorder typically appear normal until their development slows and muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmentally regress) and may develop an exaggerated startle reaction to loud noises. As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. In some cases, affected individuals have distinctive facial features that are described as "coarse," enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not survive past early childhood.  Type II GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type II have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood.  The third type of GM1 gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III. </s>


Input: How many people are affected by GM1 gangliosidosis ?

Output: GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type I is reported more frequently than the other forms of this condition. Most individuals with type III are of Japanese descent. </s>


Input: What are the genetic changes related to GM1 gangliosidosis ?

Output: Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Within lysosomes, -galactosidase helps break down several molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for normal functioning of nerve cells in the brain.  Mutations in the GLB1 gene reduce or eliminate the activity of -galactosidase. Without enough functional -galactosidase, GM1 ganglioside cannot be broken down when it is no longer needed. As a result, this substance accumulates to toxic levels in many tissues and organs, particularly in the brain. Progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells in the brain, causing many of the signs and symptoms of GM1 gangliosidosis. In general, the severity of GM1 gangliosidosis is related to the level of -galactosidase activity. Individuals with higher enzyme activity levels usually have milder signs and symptoms than those with lower activity levels because they have less accumulation of GM1 ganglioside within the body.  Conditions such as GM1 gangliosidosis that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. </s>


Input: Is GM1 gangliosidosis inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for GM1 gangliosidosis ?

Output: These resources address the diagnosis or management of GM1 gangliosidosis:  - Genetic Testing Registry: Gangliosidosis GM1 type 3  - Genetic Testing Registry: Gangliosidosis generalized GM1 type 1  - Genetic Testing Registry: Infantile GM1 gangliosidosis  - Genetic Testing Registry: Juvenile GM>1< gangliosidosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) alkaptonuria ?

Output: Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. </s>


Input: How many people are affected by alkaptonuria ?

Output: This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. </s>


Input: What are the genetic changes related to alkaptonuria ?

Output: Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air. </s>


Input: Is alkaptonuria inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for alkaptonuria ?

Output: These resources address the diagnosis or management of alkaptonuria:  - Gene Review: Gene Review: Alkaptonuria  - Genetic Testing Registry: Alkaptonuria  - MedlinePlus Encyclopedia: Alkaptonuria   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) benign chronic pemphigus ?

Output: Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.  The severity of benign chronic pemphigus varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as "benign" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma.  Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing benign chronic pemphigus. </s>


Input: How many people are affected by benign chronic pemphigus ?

Output: Benign chronic pemphigus is a rare condition; its prevalence is unknown. </s>


Input: What are the genetic changes related to benign chronic pemphigus ?

Output: Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). The hSPCA1 protein appears to be particularly important for the normal function of cells called keratinocytes, which are found in the outer layer of the skin (the epidermis).  Mutations in the ATP2C1 gene reduce the amount of functional hSPCA1 protein in cells. This abnormality impairs cells' ability to store calcium normally. For unknown reasons, this abnormal calcium storage affects keratinocytes more than other types of cells. The abnormal regulation of calcium impairs many cell functions, including cell adhesion. As a result, keratinocytes do not stick tightly to one another, which causes the epidermis to become fragile and less resistant to minor trauma. Because the skin is easily damaged, it develops raw, blistered areas, particularly in skin folds where there is moisture and friction. </s>


Input: Is benign chronic pemphigus inherited ?

Output: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. </s>


Input: What are the treatments for benign chronic pemphigus ?

Output: These resources address the diagnosis or management of benign chronic pemphigus:  - American Osteopathic College of Dermatology  - Genetic Testing Registry: Familial benign pemphigus   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) Silver syndrome ?

Output: Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.  The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life. </s>


Input: How many people are affected by Silver syndrome ?

Output: Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown. </s>


Input: What are the genetic changes related to Silver syndrome ?

Output: Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within cells, seipin is found in the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport.  BSCL2 gene mutations that cause Silver syndrome likely lead to an alteration in the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum. This accumulation likely damages and kills motor neurons, which leads to muscle weakness and spasticity. In Silver syndrome, only specific motor neurons are involved, resulting in the hand and leg muscles being solely affected.  Some people with Silver syndrome do not have an identified mutation in the BSCL2 gene. The cause of the condition in these individuals is unknown. </s>


Input: Is Silver syndrome inherited ?

Output: Silver syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not.  Rarely, Silver syndrome is caused by new mutations in the gene and occurs in people with no history of the disorder in their family. </s>


Input: What are the treatments for Silver syndrome ?

Output: These resources address the diagnosis or management of Silver syndrome:  - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Genetic Testing Registry: Spastic paraplegia 17  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) hereditary folate malabsorption ?

Output: Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.  Infants with hereditary folate malabsorption are born with normal amounts of folates in their body because they obtain these vitamins from their mother's blood before birth. They generally begin to show signs and symptoms of the disorder within the first few months of life because their ability to absorb folates from food is impaired.  Infants with hereditary folate malabsorption experience feeding difficulties, diarrhea, and failure to gain weight and grow at the expected rate (failure to thrive). Affected individuals usually develop a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet. People with hereditary folate malabsorption may also have a deficiency of white blood cells (leukopenia), leading to increased susceptibility to infections. In addition, they may have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding.  Some infants with hereditary folate malabsorption exhibit neurological problems such as developmental delay and seizures. Over time, untreated individuals may develop intellectual disability and difficulty coordinating movements (ataxia). </s>


Input: How many people are affected by hereditary folate malabsorption ?

Output: The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available. </s>


Input: What are the genetic changes related to hereditary folate malabsorption ?

Output: The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move folates across the brush border membrane, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid).  Mutations in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases the mutated protein is not transported to the cell membrane, and so it is unable to perform its function. A lack of functional PCFT impairs the body's ability to absorb folates from food, resulting in the signs and symptoms of hereditary folate malabsorption. </s>


Input: Is hereditary folate malabsorption inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for hereditary folate malabsorption ?

Output: These resources address the diagnosis or management of hereditary folate malabsorption:  - Gene Review: Gene Review: Hereditary Folate Malabsorption  - Genetic Testing Registry: Congenital defect of folate absorption  - MedlinePlus Encyclopedia: Folate  - MedlinePlus Encyclopedia: Folate Deficiency  - MedlinePlus Encyclopedia: Folate-Deficiency Anemia  - MedlinePlus Encyclopedia: Malabsorption   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) MECP2 duplication syndrome ?

Output: MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25. </s>


Input: How many people are affected by MECP2 duplication syndrome ?

Output: The prevalence of MECP2 duplication syndrome is unknown; approximately 120 affected individuals have been reported in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome. </s>


Input: What are the genetic changes related to MECP2 duplication syndrome ?

Output: MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building blocks (base pairs), also written as 100 to 900 kilobases (kb). The MECP2 gene is always included in this duplication, and other genes may be involved, depending on the size of the duplicated segment. Extra copies of these other genes do not seem to affect the severity of the condition, because people with larger duplications have signs and symptoms that are similar to people with smaller duplications.  The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. An extra copy of the MECP2 gene leads to the production of excess MeCP2 protein, which is unable to properly regulate the expression of other genes. The misregulation of gene expression in the brain results in abnormal nerve cell (neuronal) function. These neuronal abnormalities cause irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome. </s>


Input: Is MECP2 duplication syndrome inherited ?

Output: MECP2 duplication syndrome is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a duplication of the only copy of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Females usually do not have signs and symptoms of MECP2 duplication syndrome because the X chromosome that contains the duplication may be turned off (inactive) due to a process called X-inactivation.  Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation.  Research shows that females with an MECP2 gene duplication have skewed X-inactivation, which results in the inactivation of the X chromosome containing the duplication in most cells of the body. This skewed X inactivation ensures that only the chromosome with the normal MECP2 gene is expressed. This skewed X-inactivation is why females with an MECP2 gene duplication typically do not have any features related to the additional genetic material. </s>


Input: What are the treatments for MECP2 duplication syndrome ?

Output: These resources address the diagnosis or management of MECP2 duplication syndrome:  - Cincinnati Children's Hospital: MECP2-Related Disorders  - Cleveland Clinic: Spasticity  - Gene Review: Gene Review: MECP2 Duplication Syndrome  - Genetic Testing Registry: MECP2 duplication syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) paroxysmal nocturnal hemoglobinuria ?

Output: Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both sexes equally, and can occur at any age, although it is most often diagnosed in young adulthood.  People with paroxysmal nocturnal hemoglobinuria have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are prematurely destroyed (hemolysis). Affected individuals may pass dark-colored urine due to the presence of hemoglobin, the oxygen-carrying protein in blood. The abnormal presence of hemoglobin in the urine is called hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable in the morning, upon passing urine that has accumulated in the bladder during the night (nocturnal).  The premature destruction of red blood cells results in a deficiency of these cells in the blood (hemolytic anemia), which can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with paroxysmal nocturnal hemoglobinuria may also be prone to infections due to a deficiency of white blood cells.  Abnormal platelets associated with paroxysmal nocturnal hemoglobinuria can cause problems in the blood clotting process. As a result, people with this disorder may experience abnormal blood clotting (thrombosis), especially in large abdominal veins; or, less often, episodes of severe bleeding (hemorrhage).  Individuals with paroxysmal nocturnal hemoglobinuria are at increased risk of developing cancer in blood-forming cells (leukemia).  In some cases, people who have been treated for another blood disease called aplastic anemia may develop paroxysmal nocturnal hemoglobinuria. </s>


Input: How many people are affected by paroxysmal nocturnal hemoglobinuria ?

Output: Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people. </s>


Input: What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ?

Output: Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria.  The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell membrane, thereby ensuring that these proteins are available when needed at the surface of the cell.  Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. In people with paroxysmal nocturnal hemoglobinuria, somatic mutations of the PIGA gene occur in blood-forming cells called hematopoietic stem cells, which are found mainly in the bone marrow. These mutations result in the production of abnormal blood cells. As the abnormal hematopoietic stem cells multiply, increasing numbers of abnormal blood cells are formed, alongside normal blood cells produced by normal hematopoietic stem cells.  The premature destruction of red blood cells seen in paroxysmal nocturnal hemoglobinuria is caused by a component of the immune system called complement. Complement consists of a group of proteins that work together to destroy foreign invaders such as bacteria and viruses. To protect the individual's own cells from being destroyed, this process is tightly controlled by complement-regulating proteins. Complement-regulating proteins normally protect red blood cells from destruction by complement. In people with paroxysmal nocturnal hemoglobinuria, however, abnormal red blood cells are missing two important complement-regulating proteins that need the GPI anchor protein to attach them to the cell membrane. These red blood cells are prematurely destroyed, leading to hemolytic anemia.  Research suggests that certain abnormal white blood cells that are also part of the immune system may mistakenly attack normal blood-forming cells, in a malfunction called an autoimmune process. In addition, abnormal hematopoietic stem cells in people with paroxysmal nocturnal hemoglobinuria may be less susceptible than normal cells to a process called apoptosis, which causes cells to self-destruct when they are damaged or unneeded. These features of the disorder may increase the proportion of abnormal blood cells in the body. The proportion of abnormal blood cells affects the severity of the signs and symptoms of paroxysmal nocturnal hemoglobinuria, including the risk of hemoglobinuria and thrombosis. </s>


Input: Is paroxysmal nocturnal hemoglobinuria inherited ?

Output: This condition is acquired, rather than inherited. It results from new mutations in the PIGA gene, and generally occurs in people with no previous history of the disorder in their family. The condition is not passed down to children of affected individuals. </s>


Input: What are the treatments for paroxysmal nocturnal hemoglobinuria ?

Output: These resources address the diagnosis or management of paroxysmal nocturnal hemoglobinuria:  - Duke University School of Medicine: Hemostasis & Thrombosis Center  - Genetic Testing Registry: Paroxysmal nocturnal hemoglobinuria  - MedlinePlus Encyclopedia: Paroxysmal nocturnal hemoglobinuria (PNH)  - Memorial Sloan-Kettering Cancer Center   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) glycine encephalopathy ?

Output: Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems.  The most common form of glycine encephalopathy, called the classical type, appears shortly after birth. Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females.  Researchers have identified several other types of glycine encephalopathy with variable signs and symptoms. The most common of these atypical types is called the infantile form. Children with this condition develop normally until they are about 6 months old, when they experience delayed development and may begin having seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood and cause a variety of medical problems that primarily affect the nervous system.  Rarely, the characteristic features of classical glycine encephalopathy improve with time. These cases are classified as transient glycine encephalopathy. In this form of the condition, glycine levels decrease to normal or near-normal after being very high at birth. Many children with temporarily high glycine levels go on to develop normally and experience few long-term medical problems. Intellectual disability and seizures occur in some affected individuals, however, even after glycine levels decrease. </s>


Input: How many people are affected by glycine encephalopathy ?

Output: The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada. </s>


Input: What are the genetic changes related to glycine encephalopathy ?

Output: Mutations in the AMT and GLDC genes cause glycine encephalopathy.  About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown.  The AMT and GLDC genes provide instructions for making proteins that work together as part of a larger enzyme complex. This complex, known as glycine cleavage enzyme, is responsible for breaking down glycine into smaller pieces. Mutations in either the AMT or GLDC gene prevent the complex from breaking down glycine properly. When glycine cleavage enzyme is defective, excess glycine can build up to toxic levels in the body's organs and tissues. Damage caused by harmful amounts of this molecule in the brain and spinal cord is responsible for the intellectual disability, seizures, and breathing difficulties characteristic of glycine encephalopathy. </s>


Input: Is glycine encephalopathy inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for glycine encephalopathy ?

Output: These resources address the diagnosis or management of glycine encephalopathy:  - Baby's First Test  - Gene Review: Gene Review: Glycine Encephalopathy  - Genetic Testing Registry: Non-ketotic hyperglycinemia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) spinocerebellar ataxia type 6 ?

Output: Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).  Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties. </s>


Input: How many people are affected by spinocerebellar ataxia type 6 ?

Output: The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals. </s>


Input: What are the genetic changes related to spinocerebellar ataxia type 6 ?

Output: Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. CaV2.1 channels play an essential role in communication between neurons in the brain.  The CACNA1A gene mutations that cause SCA6 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 4 to 18 times within the gene. In people with SCA6, the CAG segment is repeated 20 to 33 times. People with 20 repeats tend to experience signs and symptoms of SCA6 beginning in late adulthood, while people with a larger number of repeats usually have signs and symptoms from mid-adulthood.  An increase in the length of the CAG segment leads to the production of an abnormally long version of the alpha-1 subunit. This version of the subunit alters the location and function of the CaV2.1 channels. Normally the alpha-1 subunit is located within the cell membrane; the abnormal subunit is found in the cell membrane as well as in the fluid inside cells (cytoplasm), where it clusters together and forms clumps (aggregates). The effect these aggregates have on cell functioning is unknown. The lack of normal calcium channels in the cell membrane impairs cell communication between neurons in the brain. Diminished cell communication leads to cell death. Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to the accumulation of these aggregates. Over time, a loss of cells in the cerebellum causes the movement problems characteristic of SCA6. </s>


Input: Is spinocerebellar ataxia type 6 inherited ?

Output: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  In most cases, an affected person has one parent with the condition.  As the altered CACNA1A gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often slightly increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. </s>


Input: What are the treatments for spinocerebellar ataxia type 6 ?

Output: These resources address the diagnosis or management of SCA6:  - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6  - Genetic Testing Registry: Spinocerebellar ataxia 6   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) LAMA2-related muscular dystrophy ?

Output: LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.  Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate (failure to thrive). Hypotonia also affects the muscles used for breathing, which causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections.  As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy usually do not learn to walk unassisted. Speech problems may result from weakness of the facial muscles and tongue, but intelligence is usually normal. Heart problems and seizures occasionally occur in early-onset LAMA2-related muscular dystrophy. Because of the serious health problems that occur in this form of the disorder, many affected individuals do not survive past adolescence.  Late-onset LAMA2-related muscular dystrophy occurs later in childhood or in adulthood. Signs and symptoms of this form of the disorder are milder than in the early-onset type and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs, and life expectancy and intelligence are usually not affected in late-onset LAMA2-related muscular dystrophy. </s>


Input: How many people are affected by LAMA2-related muscular dystrophy ?

Output: The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown. </s>


Input: What are the genetic changes related to LAMA2-related muscular dystrophy ?

Output: As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit. This subunit is found in the laminin 2 protein, also known as merosin; it is also part of another laminin protein called laminin 4.  Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers.  Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2-related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. Mutations that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2-related muscular dystrophy. </s>


Input: Is LAMA2-related muscular dystrophy inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for LAMA2-related muscular dystrophy ?

Output: These resources address the diagnosis or management of LAMA2-related muscular dystrophy:  - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy  - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy  - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency  - Genetic Testing Registry: Merosin deficient congenital muscular dystrophy  - Kennedy Krieger Institute: Center for Genetic Muscle Disorders   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) mandibulofacial dysostosis with microcephaly ?

Output: Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.  Facial abnormalities that occur in MFDM include underdevelopment of the middle of the face and the cheekbones (midface and malar hypoplasia) and an unusually small lower jaw (mandibular hypoplasia, also called micrognathia). The external ears are small and abnormally shaped, and they may have skin growths in front of them called preauricular tags. There may also be abnormalities of the ear canal, the tiny bones in the ears (ossicles), or a part of the inner ear called the semicircular canals. These ear abnormalities lead to hearing loss in most affected individuals. Some people with MFDM have an opening in the roof of the mouth (cleft palate), which may also contribute to hearing loss by increasing the risk of ear infections. Affected individuals can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems.  Heart problems, abnormalities of the thumbs, and short stature are other features that can occur in MFDM. Some people with this disorder also have blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper esophagus does not connect to the lower esophagus and stomach. Most babies born with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening condition; without treatment, it prevents normal feeding and can cause lung damage from repeated exposure to esophageal fluids. </s>


Input: How many people are affected by mandibulofacial dysostosis with microcephaly ?

Output: MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature. </s>


Input: What are the genetic changes related to mandibulofacial dysostosis with microcephaly ?

Output: MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules.  EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood. </s>


Input: Is mandibulofacial dysostosis with microcephaly inherited ?

Output: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes the parent has the gene mutation only in some or all of their sperm or egg cells, which is known as germline mosaicism. In these cases, the parent has no signs or symptoms of the condition. </s>


Input: What are the treatments for mandibulofacial dysostosis with microcephaly ?

Output: These resources address the diagnosis or management of MFDM:  - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly  - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) Guillain-Barr syndrome ?

Output: Guillain-Barr syndrome is an autoimmune disorder that affects the nerves. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In Guillain-Barr syndrome, the immune response damages peripheral nerves, which are the nerves that connect the central nervous system (the brain and spinal cord) to the limbs and organs. Specifically, the immune response affects a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. Guillain-Barr syndrome can affect the neurons that control muscle movement (motor neurons); the neurons that transmit sensory signals such as pain, temperature, and touch (sensory neurons); or both. As a result, affected individuals can experience muscle weakness or lose the ability to feel certain sensations.  Muscle weakness or paralysis are the characteristic features of Guillain-Barr syndrome. The weakness often begins in the legs and spreads to the arms, torso, and face and is commonly accompanied by numbness, tingling, or pain. Additional signs and symptoms of the condition include difficulty swallowing and difficulty breathing. Occasionally, the nerves that control involuntary functions of the body such as blood pressure and heart rate are affected, which can lead to fluctuating blood pressure or an abnormal heartbeat (cardiac arrhythmia).  There are several types of Guillain-Barr syndrome, classified by the part of the peripheral nerve involved in the condition. The most common type of Guillain-Barr syndrome is acute inflammatory demyelinating polyradiculoneuropathy (AIDP). In AIDP, the immune response damages myelin, which is the covering that protects axons and promotes the efficient transmission of nerve impulses. In two other types of Guillain-Barr syndrome, acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), the axons themselves are damaged by the immune response. In AMAN, only the axons of motor neurons are damaged. In AMSAN, the axons of sensory neurons are also damaged. Because of sensory nerve damage, affected individuals can lose the ability to sense the position of their limbs and can have abnormal or absent reflexes (areflexia).  Miller Fisher syndrome, another type of Guillain-Barr syndrome, involves cranial nerves, which extend from the brain to various areas of the head and neck. Miller Fisher syndrome is characterized by three features: weakness or paralysis of the muscles that move the eyes (ophthalmoplegia), problems with balance and coordination (ataxia), and areflexia. People with this condition can have other signs and symptoms common in Guillain-Barr syndrome, such as muscle weakness.  Guillain-Barr syndrome occurs in people of all ages. The development of the condition usually follows a pattern. Prior to developing the condition, most people with Guillain-Barr syndrome have a bacterial or viral infection. The first phase of Guillain-Barr syndrome, during which signs and symptoms of the condition worsen, can last up to four weeks, although the peak of the illness is usually reached in one to two weeks. During the second phase, called the plateau, signs and symptoms of Guillain-Barr syndrome stabilize. This phase can last weeks or months. During the recovery phase, symptoms improve. However, some people with Guillain-Barr syndrome never fully recover and can still experience excessive tiredness (fatigue), muscle weakness, or muscle pain. </s>


Input: How many people are affected by Guillain-Barr syndrome ?

Output: The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent of cases in Asian countries and Latin America but only 3 to 5 percent of cases in North America and Europe. Miller Fisher syndrome is also more common in Asian countries, accounting for approximately 20 percent of cases in these countries but less than 5 percent in North America and Europe. </s>


Input: What are the genetic changes related to Guillain-Barr syndrome ?

Output: Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system, and their roles in fighting infection may contribute to the development of the condition.  Most people who develop Guillain-Barr syndrome have a bacterial or viral infection prior to developing the signs and symptoms of the condition. However, only a very small percentage of people who have an infection develop Guillain-Barr syndrome. In order to fight the infection, specialized immune cells produce proteins called antibodies that recognize specific proteins or molecules on the bacteria or virus (pathogen). Some research shows that antibodies that recognize molecules on some pathogens may also recognize proteins on the body's own nerves. As a result, the immune system attacks the nerves, causing inflammation and damaging the axons and myelin, which can lead to the signs and symptoms of Guillain-Barr syndrome. </s>


Input: Is Guillain-Barr syndrome inherited ?

Output: Almost all cases of Guillain-Barr syndrome are sporadic, which means they occur in people with no history of the condition in their family. A few families with more than one affected family member have been described; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. As a result, inheriting a genetic variation linked with Guillain-Barr syndrome does not mean that a person will develop the condition. </s>


Input: What are the treatments for Guillain-Barr syndrome ?

Output: These resources address the diagnosis or management of Guillain-Barr syndrome:  - Genetic Testing Registry: Guillain-Barre syndrome, familial  - National Institute of Neurological Disorders and Stroke: Guillain-Barr Syndrome Fact Sheet   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>


Input: What is (are) cystic fibrosis ?

Output: Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.  Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.  Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).  Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy. </s>


Input: How many people are affected by cystic fibrosis ?

Output: Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. </s>


Input: What are the genetic changes related to cystic fibrosis ?

Output: Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.  Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis.  Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however. </s>


Input: Is cystic fibrosis inherited ?

Output: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for cystic fibrosis ?

Output: These resources address the diagnosis or management of cystic fibrosis:  - American Society for Reproductive Medicine: Male Infertility  - Baby's First Test  - Gene Review: Gene Review: CFTR-Related Disorders  - Genetic Testing Registry: Cystic fibrosis  - Genomics Education Programme (UK)  - MedlinePlus Encyclopedia: Cystic Fibrosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care </s>