Waardenburg Syndrome, Type 3 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Waardenburg Syndrome, Type 3:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Skin diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:51 Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (148820) more...
MalaCards based summary: Waardenburg Syndrome, Type 3, also known as klein-waardenburg syndrome, is related to white forelock with malformations and waardenburg syndrome, type 1, and has symptoms including microcephaly, hearing impairment and narrow nasal bridge. An important gene associated with Waardenburg Syndrome, Type 3 is PAX3 (Paired Box 3). Affiliated tissues include skin, bone and eye.
UniProtKB/Swiss-Prot:69 Waardenburg syndrome 3: WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.
Diseases in the Waardenburg Syndrome, Type 4a family:
Diseases related to Waardenburg Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of diseases related to Waardenburg Syndrome, Type 3:
Human phenotypes related to Waardenburg Syndrome, Type 3:63 53 (show all 44)
MalaCards organs/tissues related to Waardenburg Syndrome, Type 3:35
Skin, Bone, Eye
Articles related to Waardenburg Syndrome, Type 3:
UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 3:69
Clinvar genetic disease variations for Waardenburg Syndrome, Type 3:5
Search GEO for disease gene expression data for Waardenburg Syndrome, Type 3.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet