Deafness, Autosomal Recessive 1b (DFNB1B)

Alias:

Dfnb1b

Autosomal Recessive Nonsyndromic Deafness 1b

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Autosomal Recessive Nonsyndromic Hearing Loss 1b

Deafness Neurosensory Autosomal Recessive 1

Deafness, Autosomal Recessive, Type 1b

Deafness, Autosomal Recessive, 1b

Autosomal Recessive Deafness 1b

Deafness Digenic Gjb2/gjb6

Nsrd1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 1b, also known as dfnb1b, is related to deafness, autosomal recessive 1a and deafness, autosomal dominant 3a. An important gene associated with Deafness, Autosomal Recessive 1b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Olfactory Signaling Pathway and Gap junction trafficking. Affiliated tissues include brain and skin, and related phenotypes are abnormal vestibular function and hearing impairment

Related ID：

MALACARDS：DFN103

OMIM：612645

MESH：D006319