DFNA77
MCID: DFN383
MIFTS: 15
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Deafness, Autosomal Dominant 77 (DFNA77)
Categories:
Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Autosomal Dominant 77:
Name: Deafness, Autosomal Dominant 77
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder adult-onset onset of hearing loss affecting high frequencies in the second or third decades all frequencies eventually affected by fourth or fifth decade one 5-generation chinese family has been reported (last curated june 2020) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases |
UniProtKB/Swiss-Prot :
73
Deafness, autosomal dominant, 77: A form of non-syndromic deafness characterized by adult onset of bilateral, postlingual, mild-to-severe sensorineural hearing loss. Sensorineural hearing loss 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.
MalaCards based summary : Deafness, Autosomal Dominant 77, also known as dfna77, is related to autosomal dominant nonsyndromic deafness 77. An important gene associated with Deafness, Autosomal Dominant 77 is ABCC1 (ATP Binding Cassette Subfamily C Member 1). Related phenotype is sensorineural hearing impairment. |
Human phenotypes related to Deafness, Autosomal Dominant 77:31
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Articles related to Deafness, Autosomal Dominant 77:
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GEO
for disease gene expression data for Deafness, Autosomal Dominant 77.
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