Deafness, Autosomal Recessive 57 (DFNB57)

Alias:

Dfnb57

Autosomal Recessive Nonsyndromic Deafness 57

Deafness, Autosomal Recessive, Type 57

Hearing Loss, Autosomal Recessive 57

Deafness, Autosomal Recessive, 57

Autosomal Recessive Deafness 57

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 57, also known as dfnb57, is related to usher syndrome, type ij and leber congenital amaurosis with early-onset deafness. An important gene associated with Deafness, Autosomal Recessive 57 is PDZD7 (PDZ Domain Containing 7), and among its related pathways/superpathways are Olfactory Signaling Pathway and Ciliary landscape. Affiliated tissues include brain, and related phenotypes are hearing impairment and sensorineural hearing impairment

Related ID：

MALACARDS：DFN364

OMIM：618003

MESH：D006319