Deafness, Autosomal Recessive 12 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Recessive 12:
deafness, autosomal recessive 12:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
OMIM:51 Chaib et al. (1996) reviewed the frequency and inheritance of congenital isolated deafness and causes for difficulties... (601386) more...
MalaCards based summary: Deafness, Autosomal Recessive 12, also known as deafness, autosomal recessive, 12, is related to dfnb12 nonsyndromic hearing loss and deafness and usher syndrome, and has symptoms including prelingual sensorineural hearing impairment and abnormality of the eye. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23), and among its related pathways is Myometrial Relaxation and Contraction Pathways. Affiliated tissues include brain and eye, and related mouse phenotypes are hearing/vestibular/ear and reproductive system.
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 CDH23 gene on chromosome 10q22.
UniProtKB/Swiss-Prot:69 Deafness, autosomal recessive, 12: 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.
Genetic tests related to Deafness, Autosomal Recessive 12:
MalaCards organs/tissues related to Deafness, Autosomal Recessive 12:35
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 12:69 (show all 31)
Clinvar genetic disease variations for Deafness, Autosomal Recessive 12:5
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 12.
Cellular components related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:
Biological processes related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet