Hereditary Diseases of Bone, Brain, Metabolism, Muscle, and Nerve (links are to articles on or ) Disease Inheritance Defect Bone diastrophic dysplasia (Type IA, Houston-Harris) Type IB sulfate transporter Autosomal recessive (Parenti-Fraccaro) II Type II (SLC26A2) type Autosomal recessive collagen (COL2A1) Autosome dominant (hypochondroplasia and thanatophoric fibroblast growth factor Autosomal dominant dysplasia) receptor (FGFR3) fibroblast growth factor sporatic receptor 2 (FGFR2) 3beta-hydroxy sterol X-linked dominant dehydrogenase (NSDHL) Ribosomal protein S6 kinase X-linked dominant (RPS6KA3) sporatic Nipped-B (NIPBL) X-linked dominant SMC1A Autosomal dominant SMC3 fibroblast growth factor Autosomal dominant receptor 2 (FGFR2) GS activation domain of Autosomal dominant activin receptor Ia/activinlike kinase 2 (ACVR1/ALK2) activating mutation of Gs noninherited postzygotic alpha type I procollagen (COL1A1, (Type I,II, III, IV) Autosomal dominant COL1A2) Brain chromodomain helicase Autosomal dominant DNA-binding protein-7 (CHD7) ataxin-1 (ATXN1) ataxin-2 (ATXN2) ataxin-3 (ATXN3) secretory carrier-associated membrane protein 4 (SCA4) SPTBN2 a1A subunit of the calcium channel (SCA1) SCA2 SCA3 SCA4 SCA5 (CACNA1A) SCA6 SCA7 SCA8 SCA10 SCA11 Autosomal dominant ataxin-7 (ATXN7) SCA12 SCA14 SCA17 SCA27 KLHL1AS ataxin-10 (ATXN10) SCA11 protein phosphatase 2A (PPP2R2B) KCNC3 protein kinase C gamma type (PRKC) Autosomal recessive frataxin (FRDA1)
Hereditary Diseases of Bone, Brain, Metabolism, Muscle, and Nerve (links are to articles on or ) Disease Inheritance Defect Bone (Type IA, Houston-Harris) Type IB (Parenti-Fraccaro) Type II Autosomal recessive Autosomal recessive Autosome dominant diastrophic dysplasia sulfate transporter (SLC26A2) type II collagen (COL2A1) (hypochondroplasia and thanatophoric dysplasia) Autosomal dominant fibroblast growth factor receptor (FGFR3) sporatic fibroblast growth factor receptor 2 (FGFR2) X-linked dominant 3beta-hydroxy sterol dehydrogenase (NSDHL) X-linked dominant Ribosomal protein S6 kinase (RPS6KA3) sporatic X-linked dominant Autosomal dominant Nipped-B (NIPBL) SMC1A SMC3 Autosomal dominant fibroblast growth factor receptor 2 (FGFR2) Autosomal dominant GS activation domain of activin receptor Ia/activinlike kinase 2 (ACVR1/ALK2) noninherited postzygotic activating mutation of Gs alpha (Type I,II, III, IV) Autosomal dominant type I procollagen (COL1A1, COL1A2) Brain Autosomal dominant chromodomain helicase DNA-binding protein-7 (CHD7) (SCA1) SCA2 SCA3 SCA4 SCA5 SCA6 SCA7 SCA8 SCA10 SCA11 SCA12 SCA14 SCA17 SCA27 Autosomal dominant ataxin-1 (ATXN1) ataxin-2 (ATXN2) ataxin-3 (ATXN3) secretory carrier-associated membrane protein 4 (SCA4) SPTBN2 a1A subunit of the calcium channel (CACNA1A) ataxin-7 (ATXN7) KLHL1AS ataxin-10 (ATXN10) SCA11 protein phosphatase 2A (PPP2R2B) KCNC3 protein kinase C gamma type (PRKC) Autosomal recessive frataxin (FRDA1)
Hereditary_diseases.docx