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autosomal dominant nonsyndromic deafness 1

Disease Summary
Associated Targets (10)
Tbio

9

Tchem

1


Mondo Description Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.
Uniprot Description A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.
Mondo Term and Equivalent IDs
MONDO:0007424:  autosomal dominant nonsyndromic deafness 1
MESH:C565121: 
UMLS:C1852282: