DFNB98
MCID: DFN269
MIFTS: 35
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Deafness, Autosomal Recessive 98 (DFNB98)
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 98:
Characteristics: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, 98: A form of non-syndromic sensorineural hearing loss with prelingual onset. 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 98, also known as dfnb98, is related to deafness, autosomal recessive 8 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 98 is TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TSPEAR gene on chromosome 21q22. OMIM : 56 This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012). (614861) |
Human phenotypes related to Deafness, Autosomal Recessive 98:31
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MalaCards organs/tissues related to Deafness, Autosomal Recessive 98:40
Brain
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Articles related to Deafness, Autosomal Recessive 98:
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ClinVar genetic disease variations for Deafness, Autosomal Recessive 98:6
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 98.
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Pathways related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:
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Cellular components related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:
Biological processes related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:
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