DFNA56
MCID: DFN274
MIFTS: 19
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Deafness, Autosomal Dominant 56 (DFNA56)
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 56:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
two unrelated chinese families have been reported (last curated february 2014) onset between 8 and 30 years 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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UniProtKB/Swiss-Prot
:
75
Deafness, autosomal dominant, 56: 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. DFNA56 is characterized by progressive hearing impairment with post-lingual onset.
MalaCards based summary : Deafness, Autosomal Dominant 56, is also known as dfna56. An important gene associated with Deafness, Autosomal Dominant 56 is TNC (Tenascin C). Affiliated tissues include brain, and related phenotype is hearing impairment. Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the TNC gene on chromosome 9q33. OMIM : 57 Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Zhao et al., 2013). (615629) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615629Human phenotypes related to Deafness, Autosomal Dominant 56:32
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MalaCards organs/tissues related to Deafness, Autosomal Dominant 56:41
Brain
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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 56:75
ClinVar genetic disease variations for Deafness, Autosomal Dominant 56:6
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Search
GEO
for disease gene expression data for Deafness, Autosomal Dominant 56.
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