Deafness, Autosomal Recessive 18a malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Recessive 18a:
deafness, autosomal recessive 18a:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:69 Deafness, autosomal recessive, 18A: 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 18a, is also known as deafness, autosomal recessive 18, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 18a is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include brain.
Disease Ontology:11 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 USH1C gene on chromosome 11p15.
Description from OMIM:51 602092
Genetic tests related to Deafness, Autosomal Recessive 18a:
MalaCards organs/tissues related to Deafness, Autosomal Recessive 18a:35
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 18a.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet