KEGG   DISEASE: Enterokinase deficiency
Entry
H00988                      Disease                                
Name
Enterokinase deficiency;
Enteropeptidase deficiency
Description
Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of small intestine
   DA96  Intestinal malabsorption or protein-losing enteropathy
    H00988  Enterokinase deficiency
Gene
TMPRSS15 [HSA:5651] [KO:K01316]
Other DBs
ICD-11: DA96.0.Y
MeSH: C562649
OMIM: 226200
Reference
PMID:11719902
  Authors
Holzinger A, Maier EM, Buck C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA
  Title
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.
  Journal
Am J Hum Genet 70:20-5 (2002)
DOI:10.1086/338456
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