DFNA2B
MCID: DFN099
MIFTS: 21
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Deafness, Autosomal Dominant 2b (DFNA2B)
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 2b:
Characteristics: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 fourth decade of life with by high frequency progressive hearing loss and has material basis in mutation in the GJB3 gene on chromosome 1p34.3.
MalaCards based summary : Deafness, Autosomal Dominant 2b, also known as dfna2b, is related to deafness, autosomal recessive 1a. An important gene associated with Deafness, Autosomal Dominant 2b is GJB3 (Gap Junction Protein Beta 3). Related phenotype is high-frequency hearing impairment. UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 2B: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
Description from OMIM:
612644
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612644Human phenotypes related to Deafness, Autosomal Dominant 2b:32
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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 2b:75
ClinVar genetic disease variations for Deafness, Autosomal Dominant 2b:6
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Search
GEO
for disease gene expression data for Deafness, Autosomal Dominant 2b.
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