Details of Disease | DrugMAP

General Information of Disease (ID: DISBV9KE)

Disease Name	Congenital enteropathy due to enteropeptidase deficiency
Synonyms	enterokinase deficiency; enteropeptidase deficiency; congenital enterokinase deficiency
Definition	A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
Disease Hierarchy	DISYKSRF: Genetic disease DIS7JDYJ: Gastrointestinal disease DISBV9KE: Congenital enteropathy due to enteropeptidase deficiency
Disease Identifiers	MONDO ID MONDO_0009173 MESH ID C562649 UMLS CUI C0268416 OMIM ID 226200 MedGen ID 82802 Orphanet ID 168601 SNOMED CT ID 124498007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TMPRSS15	TTXL0GC	Strong	Autosomal recessive	[1]
TMPRSS15	TTXL0GC	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMPRSS15	OTB277NN	Strong	Autosomal recessive	[1]
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References

1	Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002 Jan;70(1):20-5. doi: 10.1086/338456. Epub 2001 Nov 21.
2	Enteropeptidase: a gene associated with a starvation human phenotype and a novel target for obesity treatment. PLoS One. 2012;7(11):e49612.