Waardenburg Syndrome/ocular Albinism, Digenic malady
Categories: Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Ear diseases
Aliases & Descriptions for Waardenburg Syndrome/ocular Albinism, Digenic:
Orphanet epidemiological data:52
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Eye diseases, Ear diseases
UniProtKB/Swiss-Prot:68 Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.
MalaCards based summary: Waardenburg Syndrome/ocular Albinism, Digenic, also known as waardenburg syndrome/albinism, digenic, is related to ocular albinism with sensorineural deafness and ocular albinism, and has symptoms including sensorineural hearing impairment, strabismus and visual impairment. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is TYR (Tyrosinase), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin and eye, and related mouse phenotype pigmentation.
Description from OMIM:50 103470
HPO human phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:(show all 14)
MalaCards organs/tissues related to Waardenburg Syndrome/ocular Albinism, Digenic:34
Search GEO for disease gene expression data for Waardenburg Syndrome/ocular Albinism, Digenic.
Pathways related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet