Congenital enteropathy due to enteropeptidase deficiency

Orpha code: 168601OMIM code: 226200

Definition

Congenital enteropathy due to enteropeptidase deficiency is 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 data
Classification

Disease

Synonyms
Congenital enterokinase deficiency
Wrodzony Niedobór enterokinazy
ORPHA code
168601
OMIM code
226200
ICD10 code
K90.8
ICD11 code
-

No additional description.

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