General Information of Disease (ID: DISXHSNJ)

Disease Name Diarrhea 10, protein-losing enteropathy type
Synonyms DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10
Disease Hierarchy
DIS5BJ7B: Congenital diarrhea
DISXHSNJ: Diarrhea 10, protein-losing enteropathy type
Disease Identifiers
MONDO ID
MONDO_0032586
UMLS CUI
C4748579
OMIM ID
618183
MedGen ID
1648311

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DGAT1 TT0GV3R Strong GermlineCausalMutation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLVAP OTAQGWYA Strong Autosomal recessive [2]
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References

1 DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest. 2012 Dec;122(12):4680-4. doi: 10.1172/JCI64873. Epub 2012 Nov 1.
2 Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype. J Med Genet. 2018 Nov;55(11):779-784. doi: 10.1136/jmedgenet-2018-105299. Epub 2018 Jun 6.