Deafness, Autosomal Recessive 1a (DFNB1A)

Alias:

Deafness, Digenic, Gjb2/gjb3

Dfnb1a

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/gjb6

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Autosomal Recessive Nonsyndromic Hearing Loss 1a

Deafness Neurosensory Autosomal Recessive 1

Deafness, Autosomal Recessive, Type 1a

Deafness, Autosomal Recessive, 1a

Autosomal Recessive Deafness 1a

Deafness, Digenic Gjb2/gjb6

Deafness Digenic Gjb2/gjb3

Deafness Digenic Gjb2/gjb6

Nsrd1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 1a, also known as deafness, digenic, gjb2/gjb3, is related to deafness, autosomal recessive 1b and deafness, autosomal dominant 3a. An important gene associated with Deafness, Autosomal Recessive 1a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Olfactory Signaling Pathway and Sensory processing of sound. Affiliated tissues include brain and skin, and related phenotypes are abnormal vestibular function and sensorineural hearing impairment

Related ID：

MALACARDS：DFN097

OMIM：220290

MESH：D006319