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Enterokinase deficiency

Synonyms
Congenital enteropathy due to enteropeptidase deficiency; Deficiency of enteropeptidase; ENTEROPEPTIDASE DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen (see 276000) and has a major role in protein digestion, is an autosomal recessive disorder characterized by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhea, and generalized edema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued (summary by Holzinger et al., 2002). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ENTK, PRSS7, TMPRSS15
    Summary: transmembrane serine protease 15

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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