Mondo Description Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
Uniprot Description WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.
Disease Ontology Description A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
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This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110948
GARD:0005519
NCIT:C75008
OMIM:193500
Orphanet:894
UMLS:C1847800
MONDO:0008670
High level summary of knowledge for a disease, including descriptions and datasource references.