Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a (CPSFS1A)

Alias:

Multiple Pterygium Syndrome, Autosomal Dominant

Contractures, Pterygia, and Spondylocarpostarsal Fusion Syndrome 1a

Autosomal Dominant Multiple Pterygium Syndrome

Cpsfs1a

Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a

Pterygium Syndrome, Multiple, Autosomal Dominant

Arthrogryposis, Distal, Type 8, Formerly

Arthrogryposis, Distal, Type 8

Pterygium Syndrome, Multiple

Distal Arthrogryposis Type 8

Autosomal Dominant

Da8, Formerly

Cpskf1a

Da8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a, also known as multiple pterygium syndrome, autosomal dominant, is related to autosomal dominant polycystic kidney disease and hypocalcemia, autosomal dominant 1. An important gene associated with Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a is MYH3 (Myosin Heavy Chain 3). The drugs Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are short neck and hearing impairment

Related ID：

MALACARDS：CNT116

OMIM：178110

MESH：D001176