Arthrogryposis, Distal, Type 4 (DA4)

Alias:

Distal Arthrogryposis Type 4

Arthrogryposis-Severe Scoliosis Syndrome

Distal Arthrogryposis Type Iid

Daiid

Da4

Arthrogryposis with Severe Scoliosis

Arthrogryposis, Distal, Type Iid

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arthrogryposis, Distal, Type 4, also known as distal arthrogryposis type 4, is related to alzheimer disease, familial, 1 and photoallergic dermatitis, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 4 is SNORA4 (Small Nucleolar RNA, H/ACA Box 4), and among its related pathways/superpathways are Thermogenesis and G-protein signaling_Rap2B regulation pathway. Related phenotypes are scoliosis and nystagmus

Related ID：

MALACARDS：ART131

OMIM：609128

MESH：C563791