Details of Disease

General Information of Disease (ID: DISM8SI0)

Disease Name Waardenburg syndrome type 4B
Synonyms
Waardenburg syndrome, type 4B, with Hirschsprung disease; Waardenburg syndrome, type 4B; Waardenburg syndrome with Hirschsprung disease type 4B; Waardenburg syndrome caused by mutation in EDN3; Waardenburg syndrome type IVB; Waardenburg syndrome type 4B; WS4B; EDN3 Waardenburg syndrome
Definition A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.
Disease Hierarchy
DISR8C6R: Waardenburg-Shah syndrome
DISRU41A: Waardenburg syndrome
DISM8SI0: Waardenburg syndrome type 4B
Disease Identifiers
MONDO ID
MONDO_0013201
MESH ID
C567680
UMLS CUI
C2750457
OMIM ID
613265
MedGen ID
412961

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EDN3 OTN7Q9BE Strong Autosomal dominant [1]
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References

1 Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996 Apr;12(4):442-4. doi: 10.1038/ng0496-442.