Details of Disease

General Information of Disease (ID: DISJC3W2)

Disease Name Hirschsprung disease, susceptibility to, 4
Synonyms
HSCR4; susceptibility to Hirschsprung disease 4; Hirschsprung disease, susceptibility to, 4; Hirschsprung disease, susceptibility to, type 4; Hirschsprung disease caused by mutation in EDN3; EDN3 Hirschsprung disease
Definition An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.
Disease Hierarchy
DISUXR33: Hirschsprung disease, susceptibility to
DISJC3W2: Hirschsprung disease, susceptibility to, 4
Disease Identifiers
MONDO ID
MONDO_0013384
UMLS CUI
C3150975
OMIM ID
613712
MedGen ID
462325

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 Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.