Details of Disease | DrugMAP

General Information of Disease (ID: DIS6L4RW)

Disease Name	Microvillus inclusion disease
Synonyms	congenital familial protracted diarrhea; Davidson's disease; intractable diarrhoea of infancy; familial enteropathy, microvillus; DIAR2; diarrhea 2, with microvillus atrophy; diarrhoea 2, with microvillus atrophy; congenital familial protracted diarrhea with enterocyte Brush-border abnormalities; intractable diarrhea of infancy; congenital familial protracted diarrhoea with enterocyte Brush-border abnormalities; congenital familial protracted diarrhoea; microvillus atrophy, congenital; diarrhea 2 with microvillus atrophy; diarrhoea 2 with microvillus atrophy; congenital familial protracted diarrhoea with enterocyte brush-border abnormalities; Davidson disease; MYO5B secretory diarrhoea; secretory diarrhea caused by mutation in MYO5B; congenital microvillous atrophy; congenital microvillus atrophy; microvillus inclusion disease; MVID; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities; microvillous inclusion disease; secretory diarrhoea caused by mutation in MYO5B; MYO5B secretory diarrhea
Definition	Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.
Disease Hierarchy	DISBX8WG: Secretory diarrhea DISYK1KE: Congenital secretory diarrhea DIS6L4RW: Microvillus inclusion disease
Disease Identifiers	MONDO ID MONDO_0009635 MESH ID C537470 UMLS CUI C0341306 OMIM ID 251850 MedGen ID 137954 Orphanet ID 2290 SNOMED CT ID 235729009

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
ABCB11	TTUXCAF	Strong	Biomarker	[1]
AQP7	TTNGCRK	Strong	Biomarker	[2]
SLC9A3	TTFZVPO	Strong	Biomarker	[3]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STXBP2	OTX8GUC4	Limited	Autosomal recessive	[4]
RAB8A	OTPB54Y3	moderate	Biomarker	[5]
STX3	OT4CIWLJ	Moderate	Autosomal recessive	[4]
RAB11A	OTC4FW0J	Strong	Biomarker	[5]
MYO5B	OTCKL3W3	Definitive	Autosomal recessive	[6]
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References

1	MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.Hepatology. 2014 Jul;60(1):301-10. doi: 10.1002/hep.26974. Epub 2014 May 27.
2	Loss of MYO5B Leads to Reductions in Na(+) Absorption With Maintenance of CFTR-Dependent Cl(-) Secretion in Enterocytes.Gastroenterology. 2018 Dec;155(6):1883-1897.e10. doi: 10.1053/j.gastro.2018.08.025. Epub 2018 Aug 23.
3	Identification of intestinal ion transport defects in microvillus inclusion disease.Am J Physiol Gastrointest Liver Physiol. 2016 Jul 1;311(1):G142-55. doi: 10.1152/ajpgi.00041.2016. Epub 2016 May 26.
4	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.
5	Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.Traffic. 2017 Jul;18(7):453-464. doi: 10.1111/tra.12486. Epub 2017 May 17.
6	MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.