MCID: CNG478
MIFTS: 22

Congenital Diarrhea

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Diarrhea

MalaCards integrated aliases for Congenital Diarrhea:

Name: Congenital Diarrhea 12 37 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060774
KEGG 37 H01174

Summaries for Congenital Diarrhea

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

MalaCards based summary : Congenital Diarrhea is related to diarrhea 5, with tufting enteropathy, congenital and diarrhea 8, secretory sodium, congenital. An important gene associated with Congenital Diarrhea is NEUROG3 (Neurogenin 3), and among its related pathways/superpathways is Mineral absorption. Affiliated tissues include small intestine, and related phenotypes are adipose tissue and digestive/alimentary

Related Diseases for Congenital Diarrhea

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.26 DGAT1 NEUROG3 SLC9A3 STX3
2 digestive/alimentary MP:0005381 9.02 SLC9A3 DGAT1 EPCAM MYO5B NEUROG3

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:

41
Small Intestine

Publications for Congenital Diarrhea

Articles related to Congenital Diarrhea:

(show all 14)
# Title Authors Year
1
Organic Solute Transporter-beta (SLC51B) Deficiency in Two Brothers with Congenital Diarrhea and Features of Cholestasis. ( 28898457 )
2017
2
Reply to "Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease". ( 28250010 )
2017
3
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. ( 28373485 )
2017
4
Congenital Diarrhea from DGAT1 Mutation Leading to Electrolyte Derangements, Protein-Losing Enteropathy, and Rickets. ( 28937539 )
2017
5
Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease. ( 28250009 )
2017
6
A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy. ( 25818968 )
2014
7
Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. ( 24084374 )
2013
8
Extremely rare cause of congenital diarrhea: enteric anendocrinosis. ( 24134759 )
2013
9
Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings. ( 23689399 )
2013
10
Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea. ( 20069658 )
2010
11
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. ( 21199752 )
2010
12
In vivo evidence for interferon-gamma-mediated homeostatic mechanisms in small intestine of the NHE3 Na+/H+ exchanger knockout model of congenital diarrhea. ( 12370192 )
2002
13
A new congenital diarrhea gene. ( 9207253 )
1997
14
Congenital diarrhea with intestinal inflammation and epithelial immaturity. ( 3794928 )
1987

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:

37
# Name Kegg Source Accession
1 Mineral absorption hsa04978

GO Terms for Congenital Diarrhea

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 EPCAM SLC9A3 STX3

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

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 8.8 AP1S1 MYO5B STX3

Sources for Congenital Diarrhea

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
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