DFNA28
MCID: DFN094
MIFTS: 32
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Deafness, Autosomal Dominant 28 (DFNA28)
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 28:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable age at onset (earliest reported 7 years) progressive deafness HPO:31
deafness, autosomal dominant 28:
Inheritance autosomal dominant inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
73
Deafness, autosomal dominant, 28: 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. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.
MalaCards based summary : Deafness, Autosomal Dominant 28, also known as dfna28, is related to autosomal dominant non-syndromic sensorineural deafness type dfna and sensorineural hearing loss. An important gene associated with Deafness, Autosomal Dominant 28 is GRHL2 (Grainyhead Like Transcription Factor 2). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and Synthetic lethal with Ras Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has material basis in mutation in the GRHL2 gene on chromosome 8q22. |
Human phenotypes related to Deafness, Autosomal Dominant 28:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:608641 |
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MalaCards organs/tissues related to Deafness, Autosomal Dominant 28:40
Brain
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Articles related to Deafness, Autosomal Dominant 28:
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ClinVar genetic disease variations for Deafness, Autosomal Dominant 28:6
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Search
GEO
for disease gene expression data for Deafness, Autosomal Dominant 28.
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Biological processes related to Deafness, Autosomal Dominant 28 according to GeneCards Suite gene sharing:
Molecular functions related to Deafness, Autosomal Dominant 28 according to GeneCards Suite gene sharing:
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