MCID: DRR016
MIFTS: 48

Diarrhea 2, with Microvillus Atrophy

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Diarrhea 2, with Microvillus Atrophy

MalaCards integrated aliases for Diarrhea 2, with Microvillus Atrophy:

Name: Diarrhea 2, with Microvillus Atrophy 57 75
Microvillus Inclusion Disease 57 12 76 53 25 59 75 13 55 15 73
Congenital Familial Protracted Diarrhea with Enterocyte Brush-Border Abnormalities 57 12 53 25 75
Intractable Diarrhea of Infancy 57 12 53 25 75
Congenital Microvillous Atrophy 53 25 59 29 6
Davidson Disease 57 12 53 25 75
Mvid 57 25 59 75
Microvillus Atrophy, Congenital 57 53
Congenital Microvillus Atrophy 12 59
Microvillous Inclusion Disease 25 59
Diar2 57 75
Congenital Familial Protracted Diarrhea 53
Microvillus Inclusion Disease; Mvid 57
Diarrhea with Microvillus Atrophy 2 41
Diarrhea 2 with Microvillus Atrophy 12
Microvillus Atrophy with Diarrhea 2 25
Familial Enteropathy, Microvillus 53
Familial Protracted Enteropathy 25
Microvillus Atrophy Congenital 75
Congenital Enteropathy 25
Microvillous Atrophy 25
Davidson's Disease 53
Diarrhea 2 41
Mvd 12

Characteristics:

Orphanet epidemiological data:

59
microvillus inclusion disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
diarrhea 2, with microvillus atrophy:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diarrhea 2, with Microvillus Atrophy

OMIM : 57 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 : Diarrhea 2, with Microvillus Atrophy, also known as microvillus inclusion disease, is related to congenital diarrhea and diarrhea. An important gene associated with Diarrhea 2, with Microvillus Atrophy is MYO5B (Myosin VB), and among its related pathways/superpathways is Mineral absorption. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include small intestine, testes and liver, and related phenotypes are nephrocalcinosis and pruritus

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.

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.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Microvillus inclusion disease, also known as Davidson\'s disease, congenital microvillus atrophy and,... more...

Related Diseases for Diarrhea 2, with Microvillus Atrophy

Diseases related to Diarrhea 2, with Microvillus Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 congenital diarrhea 29.0 MYO5B SKIV2L SLC9A3 STX3
2 diarrhea 27.3 MYO5B SKIV2L SLC26A3 SLC9A3 TTC37
3 porokeratosis 7, multiple types 11.7
4 dihydropyrimidinase deficiency 11.4
5 porokeratosis 11.3
6 diarrhea 5, with tufting enteropathy, congenital 11.1
7 marburg hemorrhagic fever 11.1
8 urethral stricture 11.0
9 indolent systemic mastocytosis 11.0
10 gastrointestinal lymphoma 11.0
11 scotoma 11.0
12 waterhouse-friderichsen syndrome 11.0
13 linear porokeratosis 11.0
14 punctate porokeratosis 11.0
15 squamous cell carcinoma 10.1
16 cholestasis 10.1
17 metabolic acidosis 10.1
18 duodenitis 10.1
19 trigeminal neuralgia 10.0
20 endotheliitis 10.0
21 pulmonary tuberculosis 10.0
22 breast cancer 10.0
23 laryngitis 10.0
24 hypochondroplasia 9.9
25 enterocolitis 9.9
26 hepatitis 9.9
27 mucositis 9.9
28 fanconi syndrome 9.9
29 pancreatitis 9.9
30 adenoma 9.9
31 perinatal necrotizing enterocolitis 9.9
32 aortic coarctation 9.9
33 cervicitis 9.9
34 coronary stenosis 9.9
35 trichohepatoenteric syndrome 1 9.8 SKIV2L TTC37
36 hepatocellular carcinoma 9.7
37 multiple sclerosis 9.7
38 small cell cancer of the lung 9.7
39 lung cancer 9.7
40 leukemia, acute myeloid 9.7
41 ovarian cancer 1 9.7
42 leukemia 9.7
43 transitional cell carcinoma 9.7
44 myeloid leukemia 9.7
45 lassa fever 9.7
46 hemophagocytic lymphohistiocytosis, familial, 5 9.6 SLC9A3 STX3 STXBP2
47 inflammatory diarrhea 9.2 SLC26A3 SLC9A3
48 secretory diarrhea 9.1 MYO5B SLC26A3 SLC9A3
49 diarrhea 1, secretory chloride, congenital 9.0 SLC26A3 SLC9A3
50 osmotic diarrhea 8.9 SLC26A3 SLC9A3 STXBP2

Graphical network of the top 20 diseases related to Diarrhea 2, with Microvillus Atrophy:



Diseases related to Diarrhea 2, with Microvillus Atrophy

Symptoms & Phenotypes for Diarrhea 2, with Microvillus Atrophy

Symptoms via clinical synopsis from OMIM:

57
GI:
dehydration
malnutrition
protracted diarrhea
enteropathy

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 Diarrhea 2, with Microvillus Atrophy:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000121
2 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 metabolic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001942
5 dehydration 59 32 frequent (33%) Frequent (79-30%) HP:0001944
6 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
7 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
8 hypovolemia 59 32 frequent (33%) Frequent (79-30%) HP:0011106
9 villous atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0011473
10 abnormal renal physiology 59 32 frequent (33%) Frequent (79-30%) HP:0012211
11 abnormality of small intestinal villus morphology 59 Frequent (79-30%)
12 growth delay 32 HP:0001510
13 protracted diarrhea 32 HP:0004385
14 malnutrition 32 HP:0004395

Drugs & Therapeutics for Diarrhea 2, with Microvillus Atrophy

Drugs for Diarrhea 2, with Microvillus Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815 Not Applicable

Search NIH Clinical Center for Diarrhea 2, with Microvillus Atrophy

Genetic Tests for Diarrhea 2, with Microvillus Atrophy

Genetic tests related to Diarrhea 2, with Microvillus Atrophy:

# Genetic test Affiliating Genes
1 Congenital Microvillous Atrophy 29 MYO5B

Anatomical Context for Diarrhea 2, with Microvillus Atrophy

MalaCards organs/tissues related to Diarrhea 2, with Microvillus Atrophy:

41
Small Intestine, Testes, Liver, Retina

Publications for Diarrhea 2, with Microvillus Atrophy

Articles related to Diarrhea 2, with Microvillus Atrophy:

(show top 50) (show all 55)
# 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
New Mouse Models for Microvillus Inclusion Disease (MVID): Where Do the Inclusions Come From and Are They Cause orA Consequence? ( 28174707 )
2016
4
The zebrafish goosepimples/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease. ( 27497746 )
2016
5
Congenital Microvillus Inclusion Disease in the Differential Diagnosis of Intractable Metabolic Acidosis. ( 27575604 )
2016
6
Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum. ( 27019864 )
2016
7
Identification of intestinal ion transport defects in microvillus inclusion disease. ( 27229121 )
2016
8
Towards understanding microvillus inclusion disease. ( 26830108 )
2016
9
Microvillus inclusion disease: a subtotal enterectomy as a bridge to transplantation. ( 27477384 )
2016
10
An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. ( 26392529 )
2015
11
Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease. ( 25517957 )
2015
12
The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease. ( 26526116 )
2015
13
Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency. ( 26057766 )
2015
14
Myo5b knockout mice as a model of microvillus inclusion disease. ( 26201991 )
2015
15
Microvillus inclusion disease associated with necrotizing enterocolitis in a premature infant. ( 25452882 )
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
Loss of syntaxin 3 causes variant microvillus inclusion disease. ( 24726755 )
2014
19
Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment. ( 25258405 )
2014
20
Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. ( 24138727 )
2014
21
Diabetes in Microvillus Inclusion Disease. ( 23648791 )
2013
22
Extraintestinal manifestations in an infant with microvillus inclusion disease: complications or features of the disease? ( 23354788 )
2013
23
Multiple hepatic adenomas in a child with microvillus inclusion disease. ( 23525737 )
2013
24
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. ( 24014347 )
2013
25
Bowel &amp;quot;Dissection&amp;quot; in Microvillus Inclusion Disease. ( 23608388 )
2013
26
Microvillus inclusion disease: antenatal ultrasound and phenotypic severity. ( 22197941 )
2012
27
Severe hypernatremic dehydration and metabolic acidosis due to neonatal intestinal microvillus inclusion disease. ( 21968248 )
2012
28
MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. ( 22441677 )
2012
29
Zinc and copper deficiency in the microvillus inclusion disease. ( 22094898 )
2012
30
Prenatal diagnosis of microvillus inclusion disease. ( 22030065 )
2011
31
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. ( 21206382 )
2011
32
Light microscopic diagnosis of microvillus inclusion disease on colorectal specimens using CD10. ( 20505500 )
2010
33
Toward a cellular model of microvillus inclusion disease. ( 20437611 )
2010
34
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. ( 21199752 )
2010
35
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
36
Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve. ( 18277898 )
2008
37
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. ( 18724368 )
2008
38
Pathophysiology in Microvillus inclusion disease. ( 16902898 )
2006
39
Microvillus inclusion disease: progressive mucosal pathology. A scanning and transmission electron microscopic study, and thoughts about possible pathogenesis. ( 17784640 )
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
Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium. ( 11208062 )
2000
44
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
45
Treatment of microvillus inclusion disease by intestinal transplantation. ( 10941971 )
2000
46
Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease. ( 9740207 )
1998
47
Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease. ( 9822319 )
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 Diarrhea 2, with Microvillus Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 2, with Microvillus Atrophy:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 MYO5B p.Val108Gly VAR_054993 rs121908103
2 MYO5B p.Arg219His VAR_054994 rs1053713532Diarrhea
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 Diarrhea 2, with Microvillus Atrophy:

6
(show all 26)
# 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.323T> G (p.Val108Gly) single nucleotide variant Pathogenic rs121908103 GRCh38 Chromosome 18, 50036982: 50036982
5 MYO5B NM_001080467.2(MYO5B): c.1125G> A (p.Trp375Ter) single nucleotide variant Pathogenic rs121908104 GRCh37 Chromosome 18, 47500917: 47500917
6 MYO5B NM_001080467.2(MYO5B): c.1125G> A (p.Trp375Ter) single nucleotide variant Pathogenic rs121908104 GRCh38 Chromosome 18, 49974547: 49974547
7 MYO5B NM_001080467.2(MYO5B): c.1966C> T (p.Arg656Cys) single nucleotide variant Pathogenic rs121908105 GRCh37 Chromosome 18, 47462659: 47462659
8 MYO5B NM_001080467.2(MYO5B): c.1966C> T (p.Arg656Cys) single nucleotide variant Pathogenic rs121908105 GRCh38 Chromosome 18, 49936289: 49936289
9 MYO5B NM_001080467.2(MYO5B): c.1979C> T (p.Pro660Leu) single nucleotide variant Pathogenic rs121908106 GRCh37 Chromosome 18, 47462646: 47462646
10 MYO5B NM_001080467.2(MYO5B): c.1979C> T (p.Pro660Leu) single nucleotide variant Pathogenic rs121908106 GRCh38 Chromosome 18, 49936276: 49936276
11 MYO5B NM_001080467.2(MYO5B): c.3276+5G> A single nucleotide variant Likely pathogenic rs727505395 GRCh37 Chromosome 18, 47405310: 47405310
12 MYO5B NM_001080467.2(MYO5B): c.3276+5G> A single nucleotide variant Likely pathogenic rs727505395 GRCh38 Chromosome 18, 49878940: 49878940
13 MYO5B NM_001080467.2(MYO5B): c.2003+2T> A single nucleotide variant Pathogenic rs727505394 GRCh38 Chromosome 18, 49936250: 49936250
14 MYO5B NM_001080467.2(MYO5B): c.2003+2T> A single nucleotide variant Pathogenic rs727505394 GRCh37 Chromosome 18, 47462620: 47462620
15 MYO5B NM_001080467.2(MYO5B): c.2049G> A (p.Val683=) single nucleotide variant Benign rs2298628 GRCh38 Chromosome 18, 49929553: 49929553
16 MYO5B NM_001080467.2(MYO5B): c.2049G> A (p.Val683=) single nucleotide variant Benign rs2298628 GRCh37 Chromosome 18, 47455923: 47455923
17 MYO5B NM_001080467.2(MYO5B): c.376A> G (p.Thr126Ala) single nucleotide variant Benign rs1815930 GRCh38 Chromosome 18, 50036929: 50036929
18 MYO5B NM_001080467.2(MYO5B): c.376A> G (p.Thr126Ala) single nucleotide variant Benign rs1815930 GRCh37 Chromosome 18, 47563299: 47563299
19 MYO5B NM_001080467.2(MYO5B): c.1545+11T> C single nucleotide variant Benign rs17715416 GRCh37 Chromosome 18, 47488625: 47488625
20 MYO5B NM_001080467.2(MYO5B): c.1545+11T> C single nucleotide variant Benign rs17715416 GRCh38 Chromosome 18, 49962255: 49962255
21 MYO5B NM_001080467.2(MYO5B): c.4315+5G> C single nucleotide variant Benign rs488890 GRCh38 Chromosome 18, 49849562: 49849562
22 MYO5B NM_001080467.2(MYO5B): c.4315+5G> C single nucleotide variant Benign rs488890 GRCh37 Chromosome 18, 47375932: 47375932
23 MYO5B NM_001080467.2(MYO5B): c.5313+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 47363080: 47363080
24 MYO5B NM_001080467.2(MYO5B): c.5313+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 49836710: 49836710
25 MYO5B NM_001080467.2(MYO5B): c.4905delC (p.Thr1636Profs) deletion Likely pathogenic GRCh37 Chromosome 18, 47364120: 47364120
26 MYO5B NM_001080467.2(MYO5B): c.4905delC (p.Thr1636Profs) deletion Likely pathogenic GRCh38 Chromosome 18, 49837750: 49837750

Expression for Diarrhea 2, with Microvillus Atrophy

Search GEO for disease gene expression data for Diarrhea 2, with Microvillus Atrophy.

Pathways for Diarrhea 2, with Microvillus Atrophy

Pathways related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.33 SLC26A3 SLC9A3

GO Terms for Diarrhea 2, with Microvillus Atrophy

Cellular components related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 MLPH MYO5B RAB11A RILPL2 SLC9A3 STX3
2 phagocytic vesicle GO:0045335 9.46 RAB11A STXBP2
3 SNARE complex GO:0031201 9.43 STX3 STXBP2
4 brush border membrane GO:0031526 9.4 SLC26A3 SLC9A3
5 specific granule GO:0042581 9.32 STX3 STXBP2
6 azurophil granule GO:0042582 9.26 STX3 STXBP2
7 apical plasma membrane GO:0016324 9.26 SLC26A3 SLC9A3 STX3 STXBP2
8 zymogen granule membrane GO:0042589 9.16 STX3 STXBP2
9 Ski complex GO:0055087 8.62 SKIV2L TTC37

Biological processes related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.62 MYO5B RAB11A RILPL2 STXBP2
2 intracellular protein transport GO:0006886 9.61 MLPH RAB11A STX3
3 positive regulation of protein localization to plasma membrane GO:1903078 9.4 RAB11A STX3
4 regulation of intracellular pH GO:0051453 9.37 SLC26A3 SLC9A3
5 renal water homeostasis GO:0003091 9.26 MYO5B RAB11A
6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.16 SKIV2L TTC37
7 melanosome transport GO:0032402 8.96 MLPH RAB11A
8 vesicle-mediated transport GO:0016192 8.92 MYO5B RAB11A STX3 STXBP2

Molecular functions related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 8.62 SLC26A3 SLC9A3

Sources for Diarrhea 2, with Microvillus Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....