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:52
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:50 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:68 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.
Symptoms by clinical synopsis from OMIM:148820
Clinical features from OMIM:148820
Symptoms:52 (show all 22)
HPO human phenotypes related to Waardenburg Syndrome, Type 3:(show all 42)
MalaCards organs/tissues related to Waardenburg Syndrome, Type 3:34
Skin, Bone, Eye
Articles related to Waardenburg Syndrome, Type 3:
UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 3:68
Clinvar genetic disease variations for Waardenburg Syndrome, Type 3:5
Search GEO for disease gene expression data for Waardenburg Syndrome, Type 3.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet