Deafness, Autosomal Dominant 48 (DFNA48)

Alias:

Dfna48

Autosomal Dominant Nonsyndromic Deafness 48

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48

Deafness Autosomal Dominant Due to Mutation in Myo1a

Autosomal Dominant Nonsyndromic Hearing Loss 48

Deafness, Autosomal Dominant, Type 48

Deafness, Autosomal Dominant, 48

Autosomal Dominant Deafness 48

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Dominant 48, also known as dfna48, is related to nonsyndromic hearing loss and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Deafness, Autosomal Dominant 48 is MYO1A (Myosin IA), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and Increased shRNA abundance (Z-score > 2)

Related ID：

MALACARDS：DFN202

OMIM：607841

MESH：D006319