DIAR7
MCID: DRR019
MIFTS: 14

Diarrhea 7, Protein-Losing Enteropathy Type (DIAR7)

Categories: Gastrointestinal diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Diarrhea 7, Protein-Losing Enteropathy Type

MalaCards integrated aliases for Diarrhea 7, Protein-Losing Enteropathy Type:

Name: Diarrhea 7, Protein-Losing Enteropathy Type 58 76
Diar7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two patients in one ashkenazi 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:

33
diarrhea 7, protein-losing enteropathy type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diarrhea 7, Protein-Losing Enteropathy Type

UniProtKB/Swiss-Prot : 76 Diarrhea 7, protein-losing enteropathy type: A life-threatening disease characterized by severe, intractable, watery diarrhea.

MalaCards based summary : Diarrhea 7, Protein-Losing Enteropathy Type, is also known as diar7. An important gene associated with Diarrhea 7, Protein-Losing Enteropathy Type is DGAT1 (Diacylglycerol O-Acyltransferase 1). Related phenotypes are vomiting and hyperlipidemia

Description from OMIM: 615863

Related Diseases for Diarrhea 7, Protein-Losing Enteropathy Type

Symptoms & Phenotypes for Diarrhea 7, Protein-Losing Enteropathy Type

Human phenotypes related to Diarrhea 7, Protein-Losing Enteropathy Type:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 vomiting 33 HP:0002013
2 hyperlipidemia 33 HP:0003077
3 hypercholesterolemia 33 HP:0003124
4 diarrhea 33 HP:0002014
5 hypoalbuminemia 33 HP:0003073
6 protein-losing enteropathy 33 HP:0002243
7 villous atrophy 33 HP:0011473

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
vomiting
protein-losing enteropathy
watery diarrhea, congenital
patchy areas of dystrophic microvilli in duodenum
patchy areas of villous atrophy
more
Growth Other:
failure to thrive secondary to congenital diarrhea

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

Clinical features from OMIM:

615863

Drugs & Therapeutics for Diarrhea 7, Protein-Losing Enteropathy Type

Search Clinical Trials , NIH Clinical Center for Diarrhea 7, Protein-Losing Enteropathy Type

Genetic Tests for Diarrhea 7, Protein-Losing Enteropathy Type

Anatomical Context for Diarrhea 7, Protein-Losing Enteropathy Type

Publications for Diarrhea 7, Protein-Losing Enteropathy Type

Variations for Diarrhea 7, Protein-Losing Enteropathy Type

ClinVar genetic disease variations for Diarrhea 7, Protein-Losing Enteropathy Type:

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 Diarrhea 7, Protein-Losing Enteropathy Type

Search GEO for disease gene expression data for Diarrhea 7, Protein-Losing Enteropathy Type.

Pathways for Diarrhea 7, Protein-Losing Enteropathy Type

GO Terms for Diarrhea 7, Protein-Losing Enteropathy Type

Sources for Diarrhea 7, Protein-Losing Enteropathy Type

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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