PedAM

Pediatric Disease Annotations & Medicines


	microvillus inclusion disease

Disease ID	755
Disease	microvillus inclusion disease
Definition	Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of certain cells of the wall of the small intestine (e.g., hypoplastic villus atrophy, defective brush-border assembly and differentiation). In infants with microvillus inclusion disease, chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients (malnutrition), a failure to grow and gain weight at the expected rate (failure to thrive), and/or disturbance of the body's balance of acids and bases, which is essential in regulating the body's composition of bodily fluids (acidosis). Microvillus inclusion disease is inherited as an autosomal recessive genetic trait. - NORD Reference: NORD
Synonym	congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillous atrophy congenital microvillous atrophy (disorder) davidson disease diar2 diarrhea 2, with microvillus atrophy intractable diarrhea of infancy microvillus atrophy, congenital mvid
Orphanet	ORPHANET:2290 ORPHANET:73014
OMIM	OMIM:251850
UMLS	C0341306
SNOMED-CT	SNOMEDCT_US_2016_09_01:235729009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0520459 \| necrotizing enterocolitis \| 1 C0011849 \| diabetes mellitus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) MYO5B \| 4645 \| CLINVAR;CTD_human;ORPHANET;UNIPROT STX3 \| 6809 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 1080 \| CFTR \| DISEASES 6343 \| SCT \| DISEASES 2191 \| FAP \| DISEASES 7443 \| VRK1 \| DISEASES 6813 \| STXBP2 \| DISEASES 6549 \| SLC9A2 \| DISEASES 50674 \| NEUROG3 \| DISEASES 7429 \| VIL1 \| DISEASES 377 \| ARF3 \| DISEASES 8766 \| RAB11A \| DISEASES 6845 \| VAMP7 \| DISEASES 4072 \| EPCAM \| DISEASES 8647 \| ABCB11 \| DISEASES 6548 \| SLC9A1 \| DISEASES 79083 \| MLPH \| DISEASES 6550 \| SLC9A3 \| DISEASES 6523 \| SLC5A1 \| DISEASES 196383 \| RILPL2 \| DISEASES 10413 \| YAP1 \| DISEASES 5651 \| TMPRSS15 \| DISEASES 4645 \| MYO5B \| DISEASES 6750 \| SST \| DISEASES 4218 \| RAB8A \| DISEASES 10653 \| SPINT2 \| DISEASES 998 \| CDC42 \| DISEASES 112574 \| SNX18 \| DISEASES 9377 \| COX5A \| DISEASES 5912 \| RAP2B \| DISEASES 51010 \| EXOSC3 \| DISEASES 6809 \| STX3 \| DISEASES 7430 \| EZR \| DISEASES 1811 \| SLC26A3 \| DISEASES 9652 \| TTC37 \| DISEASES 4311 \| MME \| DISEASES 2778 \| GNAS \| DISEASES 84612 \| PARD6B \| DISEASES 6499 \| SKIV2L \| DISEASES 50943 \| FOXP3 \| DISEASES 6518 \| SLC2A5 \| DISEASES 5590 \| PRKCZ \| DISEASES 4647 \| MYO7A \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) MYO5B \| 18q STX3 \| 11q12.1

Disease ID	755
Disease	microvillus inclusion disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0001942 \| Metabolic acidosis \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0001941 \| acidemia \| 1 HP:0004387 \| Enterocolitis \| 1

Disease ID	755
Disease	microvillus inclusion disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908103	NA	4645	MYO5B	umls:C0341306	CLINVAR	NA	0.482714419	NA	MYO5B	18	50036982	A	G,C
rs121908104	NA	4645	MYO5B	umls:C0341306	CLINVAR	NA	0.482714419	NA	MYO5B	18	49974547	C	T
rs121908105	NA	4645	MYO5B	umls:C0341306	CLINVAR	NA	0.482714419	NA	MYO5B	18	49936289	G	T,C,A
rs121908106	NA	4645	MYO5B	umls:C0341306	CLINVAR	NA	0.482714419	NA	MYO5B	18	49936276	G	A
rs727505394	NA	4645	MYO5B	umls:C0341306	CLINVAR	NA	0.482714419	NA	MYO5B	18	49936250	A	T
rs727505395	NA	4645	MYO5B	umls:C0341306	CLINVAR	NA	0.482714419	NA	MYO5B	18	49878940	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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