Arthrogryposis, Distal, Type 6 (DA6)

Arthrogryposis, Distal, Type 6(来自ICD-11)

别称:

Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome

Distal Arthrogryposis Type 6

Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome

Arthrogryposis and Sensorineural Deafness

Da6

Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness

Familial Hand Abnormality and Sensori-Neural Deafness

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arthrogryposis, Distal, Type 6, also known as arthrogryposis-like hand anomaly-sensorineural deafness syndrome, is related to diamond-blackfan anemia 7 and thiamine-responsive megaloblastic anemia syndrome. An important gene associated with Arthrogryposis, Distal, Type 6 is TRIR (Telomerase RNA Component Interacting RNase), and among its related pathways/superpathways is Monoamine GPCRs. Related phenotypes are joint stiffness and sensorineural hearing impairment

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