MCID: DRR007
MIFTS: 23

Diarrhea 7

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Diarrhea 7

MalaCards integrated aliases for Diarrhea 7:

Name: Diarrhea 7 57 75 29 6 73
Diar7 57 75
Congenital Chronic Diarrhea with Protein-Losing Enteropathy 59
Congenital Chronic Diarrhea with Exudative Enteropathy 59
Diarrhea, Type 7 40

Characteristics:

Orphanet epidemiological data:

59
congenital chronic diarrhea with protein-losing enteropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two patients in one ashkenzai jewish family described (last curated june 2014)
one patient died at 17 months of age
one patient showed improvement and was thriving at 46 months of age


HPO:

32
diarrhea 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diarrhea 7

UniProtKB/Swiss-Prot : 75 Diarrhea 7: A life-threatening disease characterized by severe, intractable, watery diarrhea.

MalaCards based summary : Diarrhea 7, also known as diar7, is related to congenital diarrhea 7 with exudative enteropathy, and has symptoms including vomiting An important gene associated with Diarrhea 7 is DGAT1 (Diacylglycerol O-Acyltransferase 1), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Glycerophospholipid biosynthesis. Related phenotypes are vomiting and diarrhea

Description from OMIM: 615863

Related Diseases for Diarrhea 7

Diseases in the Diarrhea family:

Diarrhea 6 Diarrhea 7
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity Inflammatory Diarrhea
Acute Diarrhea Congenital Diarrhea

Diseases related to Diarrhea 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital diarrhea 7 with exudative enteropathy 12.0

Symptoms & Phenotypes for Diarrhea 7

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive secondary to congenital diarrhea

Laboratory Abnormalities:
hypoalbuminemia
hyperlipidemia
elevated fasting triglycerides (seen in heterozygotes as well)
elevated total cholesterol (seen in heterozygotes as well)

Abdomen Gastrointestinal:
vomiting
watery diarrhea, congenital
patchy areas of dystrophic microvilli in duodenum
patchy areas of villous atrophy
protein-losing enteropathy
more

Clinical features from OMIM:

615863

Human phenotypes related to Diarrhea 7:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 diarrhea 32 HP:0002014
3 protein-losing enteropathy 32 HP:0002243
4 hypoalbuminemia 32 HP:0003073
5 hyperlipidemia 32 HP:0003077
6 hypercholesterolemia 32 HP:0003124

UMLS symptoms related to Diarrhea 7:


vomiting

Drugs & Therapeutics for Diarrhea 7

Search Clinical Trials , NIH Clinical Center for Diarrhea 7

Genetic Tests for Diarrhea 7

Genetic tests related to Diarrhea 7:

# Genetic test Affiliating Genes
1 Diarrhea 7 29 DGAT1

Anatomical Context for Diarrhea 7

Publications for Diarrhea 7

Variations for Diarrhea 7

ClinVar genetic disease variations for Diarrhea 7:

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

Expression for Diarrhea 7

Search GEO for disease gene expression data for Diarrhea 7.

Pathways for Diarrhea 7

Pathways related to Diarrhea 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 DGAT1 MIR6848
2
Show member pathways
12.06 DGAT1 MIR6848
3
Show member pathways
11.52 DGAT1 MIR6848
4
Show member pathways
11.23 DGAT1 MIR6848
5
Show member pathways
10.8 DGAT1 MIR6848
6 10.27 DGAT1 MIR6848

GO Terms for Diarrhea 7

Sources for Diarrhea 7

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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