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Pancreatic triacylglycerol lipase deficiency
rareAn autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.
- Identifiers
- MONDO:0013700 OMIM:614338Orphanet:309031
- Causal genes
- PNLIP
- Also known as
- pancreatic lipase deficiency · pancreatic triglyceride lipase deficiency · PNLIPD
Subtypes
Rare disease
Projects
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