DFNB61
MCID: DFN188
MIFTS: 33
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Deafness, Autosomal Recessive 61 (DFNB61)
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 61:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
limited clinical information provided one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) HPO:31Classifications:
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 recessive, 61: 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 61, also known as dfnb61, is related to deafness, autosomal dominant 51 and deafness, autosomal recessive 6. An important gene associated with Deafness, Autosomal Recessive 61 is SLC26A5 (Solute Carrier Family 26 Member 5). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the SLC26A5 gene on chromosome 7q22. |
Human phenotypes related to Deafness, Autosomal Recessive 61:31
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MalaCards organs/tissues related to Deafness, Autosomal Recessive 61:40
Brain
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Articles related to Deafness, Autosomal Recessive 61:
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ClinVar genetic disease variations for Deafness, Autosomal Recessive 61:6
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 61.
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Cellular components related to Deafness, Autosomal Recessive 61 according to GeneCards Suite gene sharing:
Biological processes related to Deafness, Autosomal Recessive 61 according to GeneCards Suite gene sharing:
Molecular functions related to Deafness, Autosomal Recessive 61 according to GeneCards Suite gene sharing:
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