Details of Disease

General Information of Disease (ID: DISZ8R74)

• Disease Name: Pancreatic triacylglycerol lipase deficiency
• Synonyms: lipase, congenital absence of pancreatic; pancreatic colipase deficiency; PNLIPD; pancreatic lipase deficiency; lipase and colipase, congenital absence of pancreatic; colipase, congenital absence of pancreatic; lipase and colipase, deficiency of; PL deficiency; pancreatic triglyceride lipase deficiency
• Definition: An 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.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005073) ontology branch (https://orcid.org/0000-0002-1780-5237), and the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISDH7NI: Pancreas disorder
  DISEOA7S: Lipid metabolism disorder
  DISZ8R74: Pancreatic triacylglycerol lipase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013700
  UMLS CUI: C3280527
  OMIM ID: 614338
  MedGen ID: 482157
  Orphanet ID: 309031

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNLIP	TTXMY0J	Limited	Biomarker	[1]
PNLIP	TTXMY0J	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNLIP	OTMUZXSW	Strong	Autosomal recessive	[2]

References

• [1] Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
• [2] Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency. J Lipid Res. 2014 Feb;55(2):307-12. doi: 10.1194/jlr.P041103. Epub 2013 Nov 21.