MCID: MCR094
MIFTS: 50

Microvillus Inclusion Disease

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Microvillus Inclusion Disease

MalaCards integrated aliases for Microvillus Inclusion Disease:

Name: Microvillus Inclusion Disease 54 12 50 24 25 56 71 13 52 14 69
Congenital Familial Protracted Diarrhea with Enterocyte Brush-Border Abnormalities 12 50 25 71
Intractable Diarrhea of Infancy 12 50 25 71
Congenital Microvillous Atrophy 50 25 56 29
Davidson Disease 12 50 25 71
Mvid 24 25 56 71
Diarrhea with Microvillus Atrophy 2 39 24
Congenital Microvillus Atrophy 12 56
Microvillous Inclusion Disease 25 56
Diar2 24 71
Congenital Familial Protracted Diarrhea 50
Diarrhea 2, with Microvillus Atrophy 71
Diarrhea 2 with Microvillus Atrophy 12
Microvillus Atrophy with Diarrhea 2 25
Familial Enteropathy, Microvillus 50
Microvillus Atrophy, Congenital 50
Familial Protracted Enteropathy 25
Microvillus Atrophy Congenital 71
Congenital Enteropathy 25
Microvillous Atrophy 25
Davidson's Disease 50
Diarrhea 2 39
Mvd 12

Characteristics:

Orphanet epidemiological data:

56
microvillus inclusion disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
microvillus inclusion disease:
Inheritance autosomal recessive inheritance
Mortality/Aging death in infancy


Classifications:



External Ids:

OMIM 54 251850
Disease Ontology 12 DOID:0060775
ICD10 33 P78.3
Orphanet 56 ORPHA2290
UMLS via Orphanet 70 C0341306
ICD10 via Orphanet 34 P78.3
MedGen 40 C0341306
MeSH 42 D003968

Summaries for Microvillus Inclusion Disease

OMIM : 54
Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described. (251850)

MalaCards based summary : Microvillus Inclusion Disease, also known as congenital familial protracted diarrhea with enterocyte brush-border abnormalities, is related to porokeratosis 7, multiple types and porokeratosis, and has symptoms including protracted diarrhea, villous atrophy and dehydration. An important gene associated with Microvillus Inclusion Disease is MYO5B (Myosin VB), and among its related pathways/superpathways are Regulation of actin cytoskeleton and G12-G13 in Cellular Signaling. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include small intestine, testes and liver, and related phenotype is digestive/alimentary.

NIH Rare Diseases : 50 microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop normally. management is difficult and relies on total parenteral nutrition. the advent of intestinal transplantation has improved the outlook for these patients. microvillus inclusion disease is inherited in an autosomal recessive manner. last updated: 10/5/2011

UniProtKB/Swiss-Prot : 71 Diarrhea 2, with microvillus atrophy: A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life.

Genetics Home Reference : 25 Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.

Disease Ontology : 12 A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has material basis in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.

Wikipedia : 72 Microvillus inclusion disease, also known as Davidson\'s disease, congenital microvillus atrophy and,... more...

Related Diseases for Microvillus Inclusion Disease

Diseases related to Microvillus Inclusion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 porokeratosis 7, multiple types 11.6
2 porokeratosis 11.2
3 diarrhea 5, with tufting enteropathy, congenital 11.0
4 marburg hemorrhagic fever 11.0
5 dihydropyrimidinuria 11.0
6 3-methylglutaconic aciduria 10.9
7 indolent systemic mastocytosis 10.9
8 waterhouse-friderichsen syndrome 10.9
9 urethral stricture 10.9
10 linear porokeratosis 10.9
11 punctate porokeratosis 10.9
12 spondyloenchondrodysplasia with immune dysregulation 10.3 SLC9A3 STX3
13 motility-related diarrhea 10.1 MYO5B SLC9A3
14 diarrhea 10.1
15 baraitser-winter syndrome 10.1 CDC42 EGF
16 squamous cell carcinoma 10.0
17 cholestasis 10.0
18 metabolic acidosis 10.0
19 duodenitis 10.0
20 breast cancer 10.0
21 endotheliitis 9.9
22 laryngitis 9.9
23 pulmonary tuberculosis 9.9
24 hypochondroplasia 9.9
25 hepatitis 9.8
26 congenital diarrhea 9.8
27 pancreatitis 9.8
28 mucositis 9.8
29 adenoma 9.8
30 fanconi syndrome 9.8
31 trigeminal neuralgia 9.8
32 coronary stenosis 9.8
33 cervicitis 9.8
34 adenocarcinoma 9.6
35 leukemia 9.6
36 myeloid leukemia 9.6
37 lung cancer 9.6
38 lassa fever 9.6
39 hepatocellular carcinoma 9.6
40 transitional cell carcinoma 9.6
41 inflammatory diarrhea 9.6 SLC5A1 SLC9A3
42 eec syndrome 9.5 MYO5B SKIV2L SLC9A3 STX3
43 blind loop syndrome 9.4 SI SLC5A1
44 typhoid fever 8.3 MYO5B SI SKIV2L SLC5A1 SLC9A3
45 leprechaunism 6.3 CDC42 EGF MYO5B SI SKIV2L SLC5A1

Graphical network of the top 20 diseases related to Microvillus Inclusion Disease:



Diseases related to Microvillus Inclusion Disease

Symptoms & Phenotypes for Microvillus Inclusion Disease

Symptoms via clinical synopsis from OMIM:

54

GI:
enteropathy
protracted diarrhea
dehydration
malnutrition

Lab:
hypoplastic villus atrophy
surface enterocytes have intracytoplasmic inclusions composed of neatly arranged brush-border microvilli on em

Growth:
growth delay
infantile death often


Clinical features from OMIM:

251850

Human phenotypes related to Microvillus Inclusion Disease:

32
id Description HPO Frequency HPO Source Accession
1 protracted diarrhea 32 HP:0004385
2 villous atrophy 32 HP:0011473
3 dehydration 32 HP:0001944
4 malnutrition 32 HP:0004395
5 growth delay 32 HP:0001510

MGI Mouse Phenotypes related to Microvillus Inclusion Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 EGF MYO5B SLC5A1 SLC9A1 SLC9A3

Drugs & Therapeutics for Microvillus Inclusion Disease

Drugs for Microvillus Inclusion Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Microvillus Inclusion Disease

Genetic Tests for Microvillus Inclusion Disease

Genetic tests related to Microvillus Inclusion Disease:

id Genetic test Affiliating Genes
1 Congenital Microvillous Atrophy 29
2 Diarrhea with Microvillus Atrophy 2 24 MYO5B

Anatomical Context for Microvillus Inclusion Disease

MalaCards organs/tissues related to Microvillus Inclusion Disease:

39
Small Intestine, Testes, Liver, Retina

Publications for Microvillus Inclusion Disease

Articles related to Microvillus Inclusion Disease:

(show top 50) (show all 55)
id Title Authors Year
1
Kinetic signatures of myosin-5B, the motor involved in microvillus inclusion disease. ( 28882893 )
2017
2
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease. ( 28407399 )
2017
3
Congenital Microvillus Inclusion Disease in the Differential Diagnosis of Intractable Metabolic Acidosis. ( 27575604 )
2016
4
New Mouse Models for Microvillus Inclusion Disease (MVID): Where Do the Inclusions Come From and Are They Cause orA Consequence? ( 28174707 )
2016
5
The zebrafish goosepimples/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease. ( 27497746 )
2016
6
Towards understanding microvillus inclusion disease. ( 26830108 )
2016
7
Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum. ( 27019864 )
2016
8
Microvillus inclusion disease: a subtotal enterectomy as a bridge to transplantation. ( 27477384 )
2016
9
Identification of intestinal ion transport defects in microvillus inclusion disease. ( 27229121 )
2016
10
The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease. ( 26526116 )
2015
11
An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. ( 26392529 )
2015
12
Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency. ( 26057766 )
2015
13
Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease. ( 25517957 )
2015
14
Myo5b knockout mice as a model of microvillus inclusion disease. ( 26201991 )
2015
15
Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment. ( 25258405 )
2014
16
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. ( 24892806 )
2014
17
Pediatric and Perinatal Pathology: SY21-3 RECENT ADVANCES IN MOLECULAR PATHOLOGY OF MICROVILLUS INCLUSION DISEASE (MVID). ( 25188144 )
2014
18
Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. ( 24138727 )
2014
19
Microvillus inclusion disease associated with necrotizing enterocolitis in a premature infant. ( 25452882 )
2014
20
Loss of syntaxin 3 causes variant microvillus inclusion disease. ( 24726755 )
2014
21
Bowel "Dissection" in Microvillus Inclusion Disease. ( 23608388 )
2013
22
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. ( 24014347 )
2013
23
Multiple hepatic adenomas in a child with microvillus inclusion disease. ( 23525737 )
2013
24
Extraintestinal manifestations in an infant with microvillus inclusion disease: complications or features of the disease? ( 23354788 )
2013
25
Diabetes in Microvillus Inclusion Disease. ( 23648791 )
2013
26
Severe hypernatremic dehydration and metabolic acidosis due to neonatal intestinal microvillus inclusion disease. ( 21968248 )
2012
27
Zinc and copper deficiency in the microvillus inclusion disease. ( 22094898 )
2012
28
Microvillus inclusion disease: antenatal ultrasound and phenotypic severity. ( 22197941 )
2012
29
MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. ( 22441677 )
2012
30
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. ( 21206382 )
2011
31
Prenatal diagnosis of microvillus inclusion disease. ( 22030065 )
2011
32
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. ( 20186687 )
2010
33
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. ( 21199752 )
2010
34
Toward a cellular model of microvillus inclusion disease. ( 20437611 )
2010
35
Light microscopic diagnosis of microvillus inclusion disease on colorectal specimens using CD10. ( 20505500 )
2010
36
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. ( 18724368 )
2008
37
Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve. ( 18277898 )
2008
38
Microvillus inclusion disease: progressive mucosal pathology. A scanning and transmission electron microscopic study, and thoughts about possible pathogenesis. ( 17784640 )
2006
39
Pathophysiology in Microvillus inclusion disease. ( 16902898 )
2006
40
Autophagocytosis of the apical membrane in microvillus inclusion disease. ( 12235073 )
2002
41
Anaesthetic management of a patient with microvillus inclusion disease for intestinal transplantation. ( 11903944 )
2002
42
Microvillus inclusion disease as a cause of severe protracted diarrhea in infants. ( 11800313 )
2001
43
Treatment of microvillus inclusion disease by intestinal transplantation. ( 10941971 )
2000
44
Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium. ( 11208062 )
2000
45
Increased paracellular macromolecular transport and subnormal glucose uptake in duodenal biopsies of patients with microvillus inclusion disease. Comparisons to other chronic diarrhea patients and to nondiarrhea patients. ( 11193585 )
2000
46
Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease. ( 9822319 )
1998
47
Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease. ( 9740207 )
1998
48
Microvillus inclusion disease in two Korean infants. ( 9364305 )
1997
49
Successful intestinal transplantation for microvillus inclusion disease. ( 8119548 )
1994
50
Test and teach. Number 68. Diagnosis: Microvillus inclusion disease. ( 1331942 )
1992

Variations for Microvillus Inclusion Disease

UniProtKB/Swiss-Prot genetic disease variations for Microvillus Inclusion Disease:

71 (show all 14)
id Symbol AA change Variation ID SNP ID
1 MYO5B p.Val108Gly VAR_054993 rs121908103
2 MYO5B p.Arg219His VAR_054994
3 MYO5B p.Arg656Cys VAR_054995 rs121908105
4 MYO5B p.Ala143Glu VAR_071649
5 MYO5B p.Gly168Arg VAR_071650
6 MYO5B p.Gly316Arg VAR_071651 rs753558336
7 MYO5B p.Arg401His VAR_071652
8 MYO5B p.Gly435Arg VAR_071653
9 MYO5B p.Asn456Ser VAR_071654
10 MYO5B p.Cys514Arg VAR_071655
11 MYO5B p.Pro660Leu VAR_071656 rs121908106
12 MYO5B p.Leu1556Arg VAR_071657
13 MYO5B p.Phe538Ser VAR_072814
14 MYO5B p.Ile550Phe VAR_072815

ClinVar genetic disease variations for Microvillus Inclusion Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYO5B MYO5B, 9-BP INS, NT1362 insertion Pathogenic
2 MYO5B MYO5B, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
3 MYO5B NM_001080467.2(MYO5B): c.323T> G (p.Val108Gly) single nucleotide variant Pathogenic rs121908103 GRCh37 Chromosome 18, 47563352: 47563352
4 MYO5B NM_001080467.2(MYO5B): c.1125G> A (p.Trp375Ter) single nucleotide variant Pathogenic rs121908104 GRCh37 Chromosome 18, 47500917: 47500917
5 MYO5B NM_001080467.2(MYO5B): c.1966C> T (p.Arg656Cys) single nucleotide variant Pathogenic rs121908105 GRCh37 Chromosome 18, 47462659: 47462659
6 MYO5B NM_001080467.2(MYO5B): c.1979C> T (p.Pro660Leu) single nucleotide variant Pathogenic rs121908106 GRCh37 Chromosome 18, 47462646: 47462646
7 MYO5B NM_001080467.2(MYO5B): c.3276+5G> A single nucleotide variant Likely pathogenic rs727505395 GRCh37 Chromosome 18, 47405310: 47405310
8 MYO5B NM_001080467.2(MYO5B): c.2003+2T> A single nucleotide variant Pathogenic rs727505394 GRCh38 Chromosome 18, 49936250: 49936250

Expression for Microvillus Inclusion Disease

Search GEO for disease gene expression data for Microvillus Inclusion Disease.

Pathways for Microvillus Inclusion Disease

Pathways related to Microvillus Inclusion Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.18 CDC42 EGF SLC9A1 VIL1
2 11.63 CDC42 SLC9A1 SLC9A3
3 11.44 CDC42 EGF SLC9A1
4 11.18 SLC5A1 SLC9A1 SLC9A3
5 11.16 SLC5A1 SLC9A3
6 11.08 SI SLC5A1
7 10.94 CDC42 EGF
8 10.86 CDC42 SLC9A1 SLC9A3
9 10.41 CDC42 SLC9A1 SLC9A3

GO Terms for Microvillus Inclusion Disease

Cellular components related to Microvillus Inclusion Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 CDC42 EGF SI SLC5A1 SLC9A1 SLC9A3
2 lamellipodium GO:0030027 9.5 SLC9A1 STX3 VIL1
3 cell-cell junction GO:0005911 9.43 CDC42 SLC5A1 STX3
4 brush border membrane GO:0031526 9.4 SLC5A1 SLC9A3
5 apical plasma membrane GO:0016324 9.35 SI SLC5A1 SLC9A1 SLC9A3 STX3
6 brush border GO:0005903 9.33 SI SLC9A3 VIL1
7 extracellular exosome GO:0070062 9.28 CDC42 EGF MYO5B SI SLC5A1 SLC9A1

Biological processes related to Microvillus Inclusion Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 epidermal growth factor receptor signaling pathway GO:0007173 9.46 EGF VIL1
2 sodium ion transport GO:0006814 9.43 SLC5A1 SLC9A1 SLC9A3
3 regulation of intracellular pH GO:0051453 9.4 SLC9A1 SLC9A3
4 negative regulation of epidermal growth factor receptor signaling pathway GO:0042059 9.37 CDC42 EGF
5 regulation of pH GO:0006885 9.32 SLC9A1 SLC9A3
6 regulation of stress fiber assembly GO:0051492 9.16 CDC42 SLC9A1
7 positive regulation of protein localization to plasma membrane GO:1903078 9.13 STX3
8 sodium ion import across plasma membrane GO:0098719 8.96 SLC9A1 SLC9A3
9 intestinal D-glucose absorption GO:0001951 8.62 SLC5A1 VIL1

Molecular functions related to Microvillus Inclusion Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.32 SLC9A1 VIL1
2 antiporter activity GO:0015297 9.26 SLC9A1 SLC9A3
3 solute:proton antiporter activity GO:0015299 9.16 SLC9A1 SLC9A3
4 sodium:proton antiporter activity GO:0015385 8.96 SLC9A1 SLC9A3
5 potassium:proton antiporter activity GO:0015386 8.62 SLC9A1 SLC9A3

Sources for Microvillus Inclusion Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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