Deafness, Autosomal Dominant 2a (DFNA2A)

Alias:

Dfna2a

Autosomal Dominant Nonsyndromic Deafness 2a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a

Autosomal Dominant Nonsyndromic Hearing Loss 2a

Deafness, Autosomal Dominant, Type 2a

Deafness, Autosomal Dominant, 2a

Autosomal Dominant Deafness 2a

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Dominant 2a, also known as dfna2a, is related to dfna2 nonsyndromic hearing loss and sensorineural hearing loss. An important gene associated with Deafness, Autosomal Dominant 2a is KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Sensory processing of sound. Affiliated tissues include brain, and related phenotypes are nervous system and hearing/vestibular/ear

Related ID：

MALACARDS：DFN190

OMIM：600101

MESH：D006319