Deafness, Autosomal Dominant 3b (DFNA3B)

Alias:

Dfna3b

Autosomal Dominant Nonsyndromic Deafness 3b

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b

Autosomal Dominant Nonsyndromic Hearing Loss 3b

Deafness, Autosomal Dominant, Type 3b

Deafness, Autosomal Dominant, 3b

Autosomal Dominant Deafness 3b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Dominant 3b, also known as dfna3b, is related to deafness, autosomal dominant 3a and kid syndrome. An important gene associated with Deafness, Autosomal Dominant 3b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are G-protein signaling G-Protein alpha-i signaling cascades and Myometrial relaxation and contraction pathways. Affiliated tissues include brain and skin, and related phenotypes are adult onset sensorineural hearing impairment and nervous system

Related ID：

MALACARDS：DFN102

OMIM：612643

MESH：D006319