DIAR7
MCID: DRR019
MIFTS: 19

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 57 72
Diar7 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
diarrhea 7, protein-losing enteropathy type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diarrhea 7, Protein-Losing Enteropathy Type

UniProtKB/Swiss-Prot : 72 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 failure to thrive and vomiting

More information from OMIM: 615863 PS214700

Related Diseases for Diarrhea 7, Protein-Losing Enteropathy Type

Diseases in the Diarrhea 10, Protein-Losing Enteropathy Type family:

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 vomiting 31 HP:0002013
3 hyperlipidemia 31 HP:0003077
4 hypercholesterolemia 31 HP:0003124
5 hypoalbuminemia 31 HP:0003073
6 diarrhea 31 HP:0002014
7 villous atrophy 31 HP:0011473
8 protein-losing enteropathy 31 HP:0002243

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Articles related to Diarrhea 7, Protein-Losing Enteropathy Type:

# Title Authors PMID Year
1
DGAT1 mutation is linked to a congenital diarrheal disorder. 57 6
23114594 2012
2
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. 6
26883093 2016

Variations for Diarrhea 7, Protein-Losing Enteropathy Type

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

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DGAT1 NM_012079.6(DGAT1):c.889del (p.Gln297fs) Deletion Pathogenic 802448 rs1200919286 GRCh37: 8:145541452-145541452
GRCh38: 8:144317789-144317789
2 DGAT1 NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter) SNV Pathogenic 802449 rs1554847435 GRCh37: 8:145541594-145541594
GRCh38: 8:144317931-144317931
3 DGAT1 NM_012079.6(DGAT1):c.5del (p.Gly2fs) Deletion Pathogenic 816919 rs1588689245 GRCh37: 8:145550295-145550295
GRCh38: 8:144326632-144326632
4 DGAT1 NM_012079.6(DGAT1):c.751+2T>C SNV Pathogenic 139512 rs148665132 GRCh37: 8:145541756-145541756
GRCh38: 8:144318093-144318093
5 DGAT1 NM_012079.6(DGAT1):c.1215_1216del (p.Phe408fs) Deletion Pathogenic 1031738 GRCh37: 8:145540717-145540718
GRCh38: 8:144317054-144317055
6 DGAT1 NM_012079.6(DGAT1):c.884T>C (p.Leu295Pro) SNV Likely pathogenic 217459 rs863225093 GRCh37: 8:145541457-145541457
GRCh38: 8:144317794-144317794
7 DGAT1 NM_012079.6(DGAT1):c.981+1G>T SNV Likely pathogenic 684435 rs781934305 GRCh37: 8:145541206-145541206
GRCh38: 8:144317543-144317543
8 DGAT1 NM_012079.6(DGAT1):c.1310A>G (p.Gln437Arg) SNV Likely pathogenic 684436 rs1588680049 GRCh37: 8:145540517-145540517
GRCh38: 8:144316854-144316854
9 DGAT1 NM_012079.6(DGAT1):c.629_631del (p.Ser210del) Deletion Uncertain significance 548013 rs782577883 GRCh37: 8:145541969-145541971
GRCh38: 8:144318306-144318308
10 DGAT1 NM_012079.6(DGAT1):c.1073G>C (p.Arg358Pro) SNV Uncertain significance 973442 GRCh37: 8:145541017-145541017
GRCh38: 8:144317354-144317354
11 DGAT1 NM_012079.6(DGAT1):c.634C>T (p.Arg212Cys) SNV Uncertain significance 1030218 GRCh37: 8:145541966-145541966
GRCh38: 8:144318303-144318303
12 DGAT1 NM_012079.6(DGAT1):c.805C>T (p.Arg269Cys) SNV Uncertain significance 1030219 GRCh37: 8:145541627-145541627
GRCh38: 8:144317964-144317964

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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