MCID: CNG478
MIFTS: 29

Congenital Diarrhea

Categories: Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Congenital Diarrhea

MalaCards integrated aliases for Congenital Diarrhea:

Name: Congenital Diarrhea 12 36 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060774
KEGG 36 H01174

Summaries for Congenital Diarrhea

KEGG : 36 Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis.

MalaCards based summary : Congenital Diarrhea is related to diarrhea 4, malabsorptive, congenital and diarrhea 1, secretory chloride, congenital. An important gene associated with Congenital Diarrhea is NEUROG3 (Neurogenin 3), and among its related pathways/superpathways are Mineral absorption and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Affiliated tissues include bone, small intestine and colon, and related phenotype is digestive/alimentary.

Disease Ontology : 12 A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.

Related Diseases for Congenital Diarrhea

Diseases in the Diarrhea family:

Diarrhea 6 Diarrhea 9
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity Inflammatory Diarrhea
Acute Diarrhea Congenital Diarrhea

Diseases related to Congenital Diarrhea via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 diarrhea 4, malabsorptive, congenital 33.3 TTC37 STX3 NEUROG3 MYO5B
2 diarrhea 1, secretory chloride, congenital 32.1 TTC37 SLC9A3 SLC26A3
3 diarrhea 5, with tufting enteropathy, congenital 31.5 TTC37 SPINT2 SLC26A3 SKIV2L NEUROG3 MYO5B
4 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 30.0 SPINT2 SLC9A3
5 secretory diarrhea 29.6 SPINT2 SLC9A3 SLC26A3 MYO5B
6 diarrhea 28.9 TTC37 SPINT2 SLC9A3 SLC26A3 SKIV2L NEUROG3
7 diarrhea 2, with microvillus atrophy 27.4 TTC37 STXBP2 STX3 SLC9A3 SLC26A3 SKIV2L
8 congenital diarrhea 7 with exudative enteropathy 12.4
9 chronic diarrhea due to guanylate cyclase 2c overactivity 11.7
10 diarrhea 8, secretory sodium, congenital 11.4
11 diarrhea 11, malabsorptive, congenital 11.2
12 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 11.0
13 trichohepatoenteric syndrome 1 10.1 TTC37 SKIV2L
14 intestinal impaction 10.1 SLC9A3 SLC26A3
15 spermatocele 10.1 SLC9A3 SLC26A3
16 hemophagocytic lymphohistiocytosis, familial, 5 10.0 STXBP2 STX3
17 inflammatory bowel disease 10.0
18 inflammatory diarrhea 9.9 SLC9A3 SLC26A3
19 osmotic diarrhea 9.9 STXBP2 SLC9A3 SLC26A3
20 protein-losing enteropathy 9.9
21 polyhydramnios 9.9
22 hemophagocytic lymphohistiocytosis, familial, 4 9.8 STXBP2 STX3
23 cystic fibrosis 9.7
24 congenital chloride diarrhea 9.7
25 rickets 9.7
26 fanconi syndrome 9.7
27 cholestasis 9.7
28 intestinal obstruction 9.7
29 48,xyyy 9.7
30 gastrointestinal defects and immunodeficiency syndrome 9.7 TTC37 STXBP2 STX3 SKIV2L MYO5B
31 carpenter syndrome 1 9.6 RAB8A RAB11A MLPH
32 griscelli syndrome, type 2 9.2 STXBP2 MYO5A MLPH
33 piebald trait 9.2 STXBP2 MYO5A MLPH
34 griscelli syndrome, type 1 9.2 MYO5C MYO5B MYO5A MLPH
35 griscelli syndrome 9.1 STXBP2 RAB11A MYO5A MLPH

Graphical network of the top 20 diseases related to Congenital Diarrhea:



Diseases related to Congenital Diarrhea

Symptoms & Phenotypes for Congenital Diarrhea

MGI Mouse Phenotypes related to Congenital Diarrhea:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.23 DGAT1 EPCAM MYO5B NEUROG3 RAB11A RAB8A

Drugs & Therapeutics for Congenital Diarrhea

Search Clinical Trials , NIH Clinical Center for Congenital Diarrhea

Genetic Tests for Congenital Diarrhea

Anatomical Context for Congenital Diarrhea

MalaCards organs/tissues related to Congenital Diarrhea:

40
Bone, Small Intestine, Colon

Publications for Congenital Diarrhea

Articles related to Congenital Diarrhea:

(show all 43)
# Title Authors PMID Year
1
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China. 61
30894704 2019
2
Correction: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China. 61
30944417 2019
3
Congenital diarrhea in a newborn infant: A case report. 61
31559144 2019
4
Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant. 61
31415402 2019
5
Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis. 61
28898457 2018
6
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome. 61
29484573 2018
7
Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation. 61
28960390 2018
8
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. 61
29429573 2018
9
Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets. 61
28937539 2018
10
[Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease]. 61
28899465 2017
11
A Case Study of Intractable Diarrhea Due to Neonatal Microvillous Inclusion Disease. 61
28707991 2017
12
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. 61
28373485 2017
13
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization. 61
27749612 2017
14
Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease. 61
28250009 2017
15
Reply to "Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease". 61
28250010 2017
16
[Microvillous inclusion disease as a cause of severe congenital diarrhea. Case report]. 61
29546954 2017
17
Mutant neurogenin-3 in a Turkish boy with congenital malabsorptive diarrhea. 61
26541772 2016
18
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation. 61
26488123 2016
19
Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations. 61
25171319 2015
20
Impaired enteroendocrine development in intestinal-specific Islet1 mouse mutants causes impaired glucose homeostasis. 61
25214396 2014
21
A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge. 61
25635218 2014
22
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 61
24892806 2014
23
A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy. 61
25818968 2014
24
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. 61
25272002 2014
25
A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy. 61
24048167 2014
26
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. 61
24280991 2013
27
Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. 61
24084374 2013
28
Extremely rare cause of congenital diarrhea: enteric anendocrinosis. 61
24134759 2013
29
Extraintestinal manifestations in an infant with microvillus inclusion disease: complications or features of the disease? 61
23354788 2013
30
Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings. 61
23689399 2013
31
[Congenital diarrhoea]. 61
22516705 2011
32
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. 61
21199752 2010
33
Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea. 61
20069658 2010
34
A paucity of colonic enteroendocrine and/or enterochromaffin cells characterizes a subset of patients with chronic unexplained diarrhea/malabsorption. 61
19297006 2009
35
Targeted deletion of the ileal bile acid transporter eliminates enterohepatic cycling of bile acids in mice. 61
12819193 2003
36
In vivo evidence for interferon-gamma-mediated homeostatic mechanisms in small intestine of the NHE3 Na+/H+ exchanger knockout model of congenital diarrhea. 61
12370192 2002
37
[Microvillus inclusion disease, a rare cause of severe congenital diarrhea]. 61
12190012 2002
38
Intestinal bile acid transport: biology, physiology, and pathophysiology. 61
11396803 2001
39
A new congenital diarrhea gene. 61
9207253 1997
40
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). 61
9109432 1997
41
Congenital diarrhea with intestinal inflammation and epithelial immaturity. 61
3794928 1987
42
Primary bile acid malabsorption: defective in vitro ileal active bile acid transport. 61
7106511 1982
43
[Congenital diarrhea with chloride loss and metabolic alkalosis. Congenital alkalosis with diarrhea]. 61
5124773 1971

Variations for Congenital Diarrhea

Expression for Congenital Diarrhea

Search GEO for disease gene expression data for Congenital Diarrhea.

Pathways for Congenital Diarrhea

Pathways related to Congenital Diarrhea according to KEGG:

36
# Name Kegg Source Accession
1 Mineral absorption hsa04978

Pathways related to Congenital Diarrhea according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 RAB8A RAB11A MYO5B AP1S1
2
Show member pathways
11.89 STX3 RAB8A RAB11A MYO5C MYO5A CLDN7
3 11.76 MYO5C MYO5B MYO5A CLDN7
4 11.51 SLC26A3 RAB8A RAB11A
5 10.92 RAB8A RAB11A MYO5A

GO Terms for Congenital Diarrhea

Cellular components related to Congenital Diarrhea according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.97 STX3 SLC9A3 SLC26A3 RAB11A MYO5A MLPH
2 glutamatergic synapse GO:0098978 9.78 STX3 RAB8A RAB11A MYO5A
3 apical plasma membrane GO:0016324 9.65 STXBP2 STX3 SLC9A3 SLC26A3 EPCAM
4 phagocytic vesicle GO:0045335 9.54 STXBP2 RAB8A RAB11A
5 myosin complex GO:0016459 9.5 MYO5C MYO5B MYO5A
6 specific granule GO:0042581 9.46 STXBP2 STX3
7 recycling endosome GO:0055037 9.46 RAB8A RAB11A MYO5B MYO5A
8 zymogen granule membrane GO:0042589 9.43 STXBP2 STX3
9 azurophil granule GO:0042582 9.4 STXBP2 STX3
10 extracellular exosome GO:0070062 9.32 STXBP2 STX3 SLC9A3 RAB8A RAB11A MYO5C
11 Ski complex GO:0055087 8.96 TTC37 SKIV2L

Biological processes related to Congenital Diarrhea according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.85 STXBP2 RAB8A RAB11A MYO5B MYO5A AP1S1
2 intracellular protein transport GO:0006886 9.72 STX3 RAB8A RAB11A MLPH AP1S1
3 protein localization to plasma membrane GO:0072659 9.67 RAB8A RAB11A MYO5A
4 exocytosis GO:0006887 9.56 STXBP2 STX3 RAB11A MYO5A
5 RNA catabolic process GO:0006401 9.51 TTC37 SKIV2L
6 positive regulation of cell motility GO:2000147 9.48 EPCAM CLDN7
7 regulation of long-term neuronal synaptic plasticity GO:0048169 9.46 RAB8A RAB11A
8 neurotransmitter receptor transport, endosome to postsynaptic membrane GO:0098887 9.43 RAB8A RAB11A
9 regulation of protein transport GO:0051223 9.4 RAB8A RAB11A
10 melanosome transport GO:0032402 9.33 RAB11A MYO5A MLPH
11 vesicle-mediated transport in synapse GO:0099003 9.13 STX3 RAB8A RAB11A
12 vesicle-mediated transport GO:0016192 9.1 STXBP2 STX3 RAB11A MYO5B MYO5A AP1S1

Molecular functions related to Congenital Diarrhea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.62 MYO5C MYO5B MYO5A MLPH
2 motor activity GO:0003774 9.33 MYO5C MYO5B MYO5A
3 microfilament motor activity GO:0000146 9.26 MYO5B MYO5A
4 myosin V binding GO:0031489 8.96 RAB8A RAB11A
5 Rab GTPase binding GO:0017137 8.92 RAB8A MYO5B MYO5A MLPH

Sources for Congenital Diarrhea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....