DFNB31
MCID: DFN170
MIFTS: 26
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Deafness, Autosomal Recessive 31 (DFNB31)
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 Recessive 31:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) 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 recessive, 31: 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.
MalaCards based summary : Deafness, Autosomal Recessive 31, also known as dfnb31, is related to retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Deafness, Autosomal Recessive 31 is WHRN (Whirlin). Affiliated tissues include brain and retina, and related phenotype is sensorineural hearing impairment. Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the WHRN gene on chromosome 9q32.
Description from OMIM:
607084
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:607084Human phenotypes related to Deafness, Autosomal Recessive 31:32
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MalaCards organs/tissues related to Deafness, Autosomal Recessive 31:41
Brain,
Retina
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Articles related to Deafness, Autosomal Recessive 31:
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ClinVar genetic disease variations for Deafness, Autosomal Recessive 31:6 (show all 14)
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 31.
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