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GTR Home > Conditions/Phenotypes > Pancreatic triacylglycerol lipase deficiency

Pancreatic triacylglycerol lipase deficiency

Synonyms
LIPASE, CONGENITAL ABSENCE OF PANCREATIC; PL DEFICIENCY; Pancreatic lipase deficiency
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PL, PNLIPD, PTL, PNLIP
    Summary: pancreatic lipase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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