DFNB68
MCID: DFN263
MIFTS: 26
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Deafness, Autosomal Recessive 68 (DFNB68)
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 68:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 consanguineous pakistani families (last curated march 2016) affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene HPO:31
deafness, autosomal recessive 68:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset 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 recessive, 68: 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 68, also known as dfnb68, is related to autosomal recessive non-syndromic sensorineural deafness type dfnb and deafness, autosomal recessive 35. An important gene associated with Deafness, Autosomal Recessive 68 is S1PR2 (Sphingosine-1-Phosphate Receptor 2). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and behavior/neurological Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the S1PR2 gene on chromosome 19p13. |
Human phenotypes related to Deafness, Autosomal Recessive 68:31
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MalaCards organs/tissues related to Deafness, Autosomal Recessive 68:40
Brain
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Articles related to Deafness, Autosomal Recessive 68:
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ClinVar genetic disease variations for Deafness, Autosomal Recessive 68:6
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 68:73
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 68.
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Cellular components related to Deafness, Autosomal Recessive 68 according to GeneCards Suite gene sharing:
Molecular functions related to Deafness, Autosomal Recessive 68 according to GeneCards Suite gene sharing:
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