Details of Disease | DrugMAP

General Information of Disease (ID: DIS9KV47)

Disease Name	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISBI73X: Intestinal motility disease DIS9KV47: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Disease Identifiers	MONDO ID MONDO_0025986 MESH ID C536138 UMLS CUI C1608393 MedGen ID 296125 Orphanet ID 2241 SNOMED CT ID 253781004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MYLK	TT18ETS	moderate	Genetic Variation	[1]
CHRM3	TTQ13Z5	Strong	Biomarker	[2]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH11	OTVNVWY3	Limited	Biomarker	[3]
BHLHE23	OTLSVD17	Disputed	Biomarker	[4]
MYL9	OT6B22JB	Disputed	Biomarker	[5]
ACTG2	OTRDWUO0	Strong	Biomarker	[1]
LMOD1	OTZ2MEMG	Strong	GermlineCausalMutation	[6]
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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	Multiple functional defects in peripheral autonomic organs in mice lacking muscarinic acetylcholine receptor gene for the M3 subtype. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9579-84. doi: 10.1073/pnas.97.17.9579.
3	Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.J Hum Genet. 2019 Nov;64(11):1067-1073. doi: 10.1038/s10038-019-0651-z. Epub 2019 Aug 19.
4	Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.J Hum Genet. 2001;46(7):362-6. doi: 10.1007/PL00010921.
5	Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.Eur J Hum Genet. 2018 May;26(5):669-675. doi: 10.1038/s41431-017-0055-5. Epub 2018 Feb 16.
6	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.