MCID: DFN119
MIFTS: 28
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Deafness, Autosomal Dominant 50
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Autosomal Dominant 50:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
earliest age of onset 12 years of age initial hearing loss is mild progressing to severe or profound by the seventh decade mutations have been identified in spanish families HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
ICD10:
33
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Disease Ontology
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12
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.
MalaCards based summary : Deafness, Autosomal Dominant 50, also known as autosomal dominant nonsyndromic deafness 50, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and melanoma. An important gene associated with Deafness, Autosomal Dominant 50 is MIR96 (MicroRNA 96), and among its related pathways/superpathways is MicroRNAs in cancer. Affiliated tissues include prostate, and related phenotypes are sensorineural hearing impairment and tinnitus OMIM : 57 Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Mencia et al., 2009). (613074) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613074Human phenotypes related to Deafness, Autosomal Dominant 50:32
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MalaCards organs/tissues related to Deafness, Autosomal Dominant 50:41
Prostate
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ClinVar genetic disease variations for Deafness, Autosomal Dominant 50:6
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Search
GEO
for disease gene expression data for Deafness, Autosomal Dominant 50.
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Cellular components related to Deafness, Autosomal Dominant 50 according to GeneCards Suite gene sharing:
Biological processes related to Deafness, Autosomal Dominant 50 according to GeneCards Suite gene sharing:
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