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Pancreatic colipase deficiency

Disease definition

A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.

ORPHA:309108

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: K90.3
  • OMIM: 614338
  • UMLS: C0268241
  • MeSH: -
  • GARD: -
  • MedDRA: -
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