Arthrogryposis, Distal, Type 5 (DA5)

Alias:

Oculomelic Amyoplasia

Distal Arthrogryposis Type Iib

Distal Arthrogryposis Type 5

Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

Distal Arthrogryposis with Ophthalmoplegia

Distal Arthrogryposis Type 2b

Daiib

Da5

Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities

Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

Arthrogryposis, Distal, Type Iib

Freeman-Sheldon Syndrome Variant

Arthrogryposis, Distal, Type 2b

Arthrogryposis, Distal, 5

Sheldon-Hall Syndrome

Da2b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arthrogryposis, Distal, Type 5, also known as oculomelic amyoplasia, is related to arthrogryposis, distal, type 2b1 and arthrogryposis, distal, type 1a, and has symptoms including ulnar deviation of the wrist and ophthalmoplegia. An important gene associated with Arthrogryposis, Distal, Type 5 is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include lung and eye, and related phenotypes are ptosis and joint stiffness

Related ID：

MALACARDS：ART119

OMIM：108145

MESH：C537737