Deafness, Autosomal Recessive 109 (DFNB109)

Alias:

Dfnb109

Autosomal Recessive Nonsyndromic Deafness 109

Hearing Loss, Autosomal Recessive 109

Deafness, Autosomal Recessive, 109

Autosomal Recessive Deafness 109

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 109, also known as dfnb109, is related to tarp syndrome and treacher collins syndrome 1. An important gene associated with Deafness, Autosomal Recessive 109 is ESRP1 (Epithelial Splicing Regulatory Protein 1), and among its related pathways/superpathways are Formation of HIV elongation complex in the absence of HIV Tat and Signaling by FGFR2. Affiliated tissues include brain, and related phenotypes are congenital sensorineural hearing impairment and absent vestibular function

Related ID：

MALACARDS：DFN365

OMIM：618013

MESH：D006319