There are three main subtypes of Gaucher disease: 1  Type 1 disease is most common. 2  Type 2 disease usually begins in infancy with severe neurologic involvement. 3  Type 3 disease may cause liver, spleen, and brain problems.
http://wwwqa.nlm.nih.gov/medlineplus/275/ency/article/000564.htm
Although Gaucher carriers will not have symptoms of the disease themselves, the odds are 50:50 that the “Gaucher gene” will be passed on to each of their children. When one parent is a carrier and the other parent is unaffected, the child has a 50% chance of becoming a carrier.
https://www.gauchercare.com/en/patient/genetics/InheritingGaucher.aspx
What are the odds of having children who have Gaucher disease or are carriers? When one parent is a carrier and the other parent is unaffected, the child has a 50% chance of becoming a carrier. When both parents are carriers, there is a 50% chance their child will become a carrier and a 25% chance that the child will inherit the disease.
https://www.gauchercare.com/en/patient/genetics/InheritingGaucher.aspx
Among individuals of Eastern European (or Ashkenazi) Jewish descent, the incidence of Type 1 Gaucher disease is considerably higher (as many as 1 in 850 people) than in the general population (1 in 40,000-60,000). Approximately 1 in every 12 to 15 individuals of Ashkenazi Jewish descent is a carrier.
https://www.gauchercare.com/en/patient/genetics/InheritingGaucher.aspx
The following tests may be done: 1  Blood test to look for enzyme activity. 2  Bone marrow aspiration. 3  Biopsy of the spleen. 4  MRI. 5  CT. 6  X-ray of the skeleton. 7  Genetic testing.
http://wwwqa.nlm.nih.gov/medlineplus/275/ency/article/000564.htm
There are 3 main subtypes of Gaucher disease: Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type I affects both children and adults. It is most common in the Ashkenazi Jewish population. Type 2 disease usually begins in infancy with severe neurologic involvement.
https://www.nicklauschildrens.org/genetic/gaucher-disease
There is also a 25% chance that the child will neither be affected nor a carrier. That means with each pregnancy, carrier parents have a 3 in 4 (75%) chance of having a non-Gaucher child and a 1 in 4 (25%) chance of having a child affected by Gaucher disease. (Fig. 1) Gaucher disease is not a gender linked disorder. Both males and females can be carriers and affected with Gaucher disease. The Ashkenazi connection
https://www.gauchercare.com/en/patient/genetics/InheritingGaucher.aspx
There are three main subtypes of Gaucher disease: Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population. Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death. Type 3 disease may cause liver, spleen, and brain problems.
http://wwwqa.nlm.nih.gov/medlineplus/275/ency/article/000564.htm
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase. Causes Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to get this disease. It is an autosomal recessive disease.
http://wwwqa.nlm.nih.gov/medlineplus/275/ency/article/000564.htm
Gaucher disease is a genetic disorder passed along to children born to two parents with the recessive trait. The disease affects as many as 1 in 50,000 people with the highest risk in the Ashkenazi Jewish population.
https://www.babymed.com/conditions/gaucher-disease
gaucher's disease in pediatric population
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population.