Details of Disease

General Information of Disease (ID: DIS910BK)

Disease Name Waardenburg syndrome type 4C
Synonyms
Waardenburg syndrome with Hirschsprung disease, type 4C; Waardenburg syndrome, type 4C; Waardenburg syndrome with Hirschsprung disease type 4C; Waardenburg syndrome type IVC; Waardenburg syndrome type 4C; WS4C
Definition A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.
Disease Hierarchy
DISR8C6R: Waardenburg-Shah syndrome
DIS910BK: Waardenburg syndrome type 4C
Disease Identifiers
MONDO ID
MONDO_0013202
MESH ID
C567679
UMLS CUI
C2750452
OMIM ID
613266
MedGen ID
413310

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
SOX10 OTF25ULQ Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.