Details of Disease

General Information of Disease (ID: DISDU2S6)

Disease Name Hirschsprung disease, susceptibility to, 1
Synonyms
Hirschsprung disease, protection against; megacolon, aganglionic; aganglionic megacolon; Hirschsprung disease; susceptibility to Hirschsprung disease 1; Hirschsprung disease, susceptibility to, type 1; Hirschsprung disease, susceptibility to, 1; Hirschsprung disease caused by mutation in RET; RET Hirschsprung disease; HSCR1
Definition An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.
Disease Hierarchy
DISUXR33: Hirschsprung disease, susceptibility to
DISDU2S6: Hirschsprung disease, susceptibility to, 1
Disease Identifiers
MONDO ID
MONDO_0007723
UMLS CUI
C3888239
OMIM ID
142623
MedGen ID
854827

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COMT TTKWFB8 Limited Biomarker [1]
RET TTY0WT7 Strong Autosomal dominant [2]
RET TT4DXQT Strong Genetic Variation [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARVCF OT78DKOU Limited Biomarker [1]
MED12 OTQZ4D2X Limited Biomarker [4]
RET OTLU040A Strong Autosomal dominant [2]
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References

1 Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.Mol Neurobiol. 2017 Apr;54(3):1777-1785. doi: 10.1007/s12035-016-9752-2. Epub 2016 Feb 18.
2 Functional analysis of RET with Hirschsprung mutations affecting its kinase domain. Gastroenterology. 2001 Jul;121(1):24-33. doi: 10.1053/gast.2001.25515.
3 RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.PLoS One. 2011;6(12):e28986. doi: 10.1371/journal.pone.0028986. Epub 2011 Dec 9.
4 Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8.