Deafness, Autosomal Dominant 3a (DFNA3A)

Alias:

Dfna3a

Autosomal Dominant Nonsyndromic Deafness 3a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

Autosomal Dominant Nonsyndromic Hearing Loss 3a

Deafness, Autosomal Dominant, Type 3a

Deafness, Autosomal Dominant, 3a

Autosomal Dominant Deafness 3a

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Dominant 3a, also known as dfna3a, is related to deafness, autosomal recessive 1a and deafness, autosomal dominant 51. An important gene associated with Deafness, Autosomal Dominant 3a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Myometrial relaxation and contraction pathways and Gap junction trafficking. Affiliated tissues include brain and bone, and related phenotype is hearing/vestibular/ear.

Related ID：

MALACARDS：DFN098

OMIM：601544

MESH：D006319