Details of Disease | DrugMAP

General Information of Disease (ID: DISP6WWH)

Disease Name	Obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISP6WWH: Obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MYLK	TT18ETS	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTG2	OTRDWUO0	Supportive	Autosomal dominant	[2]
LMOD1	OTZ2MEMG	Supportive	Autosomal dominant	[3]
MYH11	OTVNVWY3	Supportive	Autosomal dominant	[4]
MYLK	OT78QB4A	Supportive	Autosomal dominant	[1]
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References

1	Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.
2	Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.
3	Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14.
4	A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19.