MCID: CNG480
MIFTS: 11

Congenital Diarrhea 7 with Exudative Enteropathy

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Diarrhea 7 with Exudative Enteropathy

MalaCards integrated aliases for Congenital Diarrhea 7 with Exudative Enteropathy:

Name: Congenital Diarrhea 7 with Exudative Enteropathy 12
Congenital Chronic Diarrhea with Protein-Losing Enteropathy 12 60
Congenital Chronic Diarrhea with Exudative Enteropathy 12 60

Characteristics:

Orphanet epidemiological data:

60
congenital chronic diarrhea with protein-losing enteropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060778
ICD10 34 P78.3
ICD10 via Orphanet 35 P78.3
Orphanet 60 ORPHA329242

Summaries for Congenital Diarrhea 7 with Exudative Enteropathy

Disease Ontology : 12 A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has material basis in homozygous mutation in the DGAT1 gene on chromosome 8q24.3.

MalaCards based summary : Congenital Diarrhea 7 with Exudative Enteropathy, is also known as congenital chronic diarrhea with protein-losing enteropathy. An important gene associated with Congenital Diarrhea 7 with Exudative Enteropathy is DGAT1 (Diacylglycerol O-Acyltransferase 1). Related phenotypes are adipose tissue and digestive/alimentary

Related Diseases for Congenital Diarrhea 7 with Exudative Enteropathy

Symptoms & Phenotypes for Congenital Diarrhea 7 with Exudative Enteropathy

MGI Mouse Phenotypes related to Congenital Diarrhea 7 with Exudative Enteropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.96 DGAT1 PLVAP
2 digestive/alimentary MP:0005381 8.62 DGAT1 PLVAP

Drugs & Therapeutics for Congenital Diarrhea 7 with Exudative Enteropathy

Search Clinical Trials , NIH Clinical Center for Congenital Diarrhea 7 with Exudative Enteropathy

Genetic Tests for Congenital Diarrhea 7 with Exudative Enteropathy

Anatomical Context for Congenital Diarrhea 7 with Exudative Enteropathy

Publications for Congenital Diarrhea 7 with Exudative Enteropathy

Variations for Congenital Diarrhea 7 with Exudative Enteropathy

ClinVar genetic disease variations for Congenital Diarrhea 7 with Exudative Enteropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DGAT1 NM_012079.5(DGAT1): c.751+2T> C single nucleotide variant Pathogenic rs148665132 GRCh37 Chromosome 8, 145541756: 145541756
2 DGAT1 NM_012079.5(DGAT1): c.751+2T> C single nucleotide variant Pathogenic rs148665132 GRCh38 Chromosome 8, 144318093: 144318093
3 DGAT1 NM_012079.5(DGAT1): c.884T> C (p.Leu295Pro) single nucleotide variant Likely pathogenic rs863225093 GRCh37 Chromosome 8, 145541457: 145541457
4 DGAT1 NM_012079.5(DGAT1): c.884T> C (p.Leu295Pro) single nucleotide variant Likely pathogenic rs863225093 GRCh38 Chromosome 8, 144317794: 144317794
5 DGAT1 NM_012079.5(DGAT1): c.629_631del (p.Ser210del) deletion Uncertain significance rs782577883 GRCh37 Chromosome 8, 145541969: 145541971
6 DGAT1 NM_012079.5(DGAT1): c.629_631del (p.Ser210del) deletion Uncertain significance rs782577883 GRCh38 Chromosome 8, 144318306: 144318308

Expression for Congenital Diarrhea 7 with Exudative Enteropathy

Search GEO for disease gene expression data for Congenital Diarrhea 7 with Exudative Enteropathy.

Pathways for Congenital Diarrhea 7 with Exudative Enteropathy

GO Terms for Congenital Diarrhea 7 with Exudative Enteropathy

Sources for Congenital Diarrhea 7 with Exudative Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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