Arthrogryposis, Distal, Type 1a (DA1A)

Arthrogryposis, Distal, Type 1a(来自ICD-11)

别称:

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

Da1

Arthrogryposis, Distal, Type 2b4

Amcd1

Da1a

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis, Distal, Type 1

Distal Arthrogryposis Type 1a

Arthrogryposis Multiplex Congenita, Distal, Type 1a

Arthrogryposis Multiplex Congenita, Distal, Type I

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

Arthrogryposis, Distal, 1a

Arthrogryposis

Da2b4

Amc

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arthrogryposis, Distal, Type 1a, also known as distal arthrogryposis type 1, is related to distal arthrogryposis and fetal akinesia deformation sequence 1, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Arthrogryposis, Distal, Type 1a is TPM2 (Tropomyosin 2), and among its related pathways/superpathways are Cardiac conduction and Adipogenesis. The drugs Tolvaptan and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are adducted thumb and overlapping fingers

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