DFNA79
MCID: DFN386
MIFTS: 13
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Deafness, Autosomal Dominant 79 (DFNA79)
Categories:
Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Autosomal Dominant 79:
Name: Deafness, Autosomal Dominant 79
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
age of onset varies from 20 years to 65 years steep drop-type hearing curves at younger ages descending hearing curves at older ages milder hearing loss in female patients based on report of 1 large 5-generation chinese family (last curated november 2020) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases |
OMIM® :
57
Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males (Lu et al., 2020). (619086) (Updated 05-Mar-2021)
MalaCards based summary : Deafness, Autosomal Dominant 79, also known as dfna79, is related to autosomal dominant nonsyndromic deafness 79. An important gene associated with Deafness, Autosomal Dominant 79 is SCD5 (Stearoyl-CoA Desaturase 5). Related phenotype is progressive sensorineural hearing impairment. |
Human phenotypes related to Deafness, Autosomal Dominant 79:31
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Articles related to Deafness, Autosomal Dominant 79:
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GEO
for disease gene expression data for Deafness, Autosomal Dominant 79.
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