Deafness, Autosomal Recessive 7 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Recessive 7:
deafness, autosomal recessive 7:
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, 7: 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 7, also known as dfnb7, is related to dfnb 7/11 nonsyndromic hearing loss and deafness, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 7 is TMC1 (Transmembrane Channel Like 1). 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 TMC1 gene on chromosome 9q21.
Description from OMIM:51 600974
Interventional clinical trials:
Search NIH Clinical Center for Deafness, Autosomal Recessive 7
Genetic tests related to Deafness, Autosomal Recessive 7:
MalaCards organs/tissues related to Deafness, Autosomal Recessive 7:35
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 7:69
Clinvar genetic disease variations for Deafness, Autosomal Recessive 7:5
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 7.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet