DFNB84A
MCID: DFN253
MIFTS: 30
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Deafness, Autosomal Recessive 84a (DFNB84A)
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 84a:
Characteristics:HPO:31
deafness, autosomal recessive 84a:
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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Disease Ontology :
12
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the PTPRQ gene on chromosome 12q21.
MalaCards based summary : Deafness, Autosomal Recessive 84a, also known as deafness, autosomal recessive 84, is related to branchiootic syndrome 1 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 84a is PTPRQ (Protein Tyrosine Phosphatase Receptor Type Q), and among its related pathways/superpathways is S-1P Stimulated Signaling. Related phenotypes are hearing impairment and motor delay UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 84A: A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction. |
Human phenotypes related to Deafness, Autosomal Recessive 84a:31
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Articles related to Deafness, Autosomal Recessive 84a:
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ClinVar genetic disease variations for Deafness, Autosomal Recessive 84a:6
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 84a:73
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 84a.
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Biological processes related to Deafness, Autosomal Recessive 84a according to GeneCards Suite gene sharing:
Molecular functions related to Deafness, Autosomal Recessive 84a according to GeneCards Suite gene sharing:
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