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pancreatic triacylglycerol lipase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pancreatic triacylglycerol lipase deficiency

MONDO:0013700

Also known as:pancreatic triglyceride lipase deficiencyPL deficiencyPNLIPD

Overview

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.

GeneticsAutosomal recessive · PNLIP (chr 10)

OnsetNEONATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Fat malabsorption, Hypocholesterolemia, and Steatorrhea. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	1	Fat malabsorption

Age of onset: newborn period.

Explore clinical features

Genetic Landscape

PNLIP function has not been fully characterized.

Pancreatic triacylglycerol lipase deficiency is associated with mutations in the PNLIP gene on chromosome 10.

Diagnosis

Genetic testing for PNLIP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pancreatic triacylglycerol lipase deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pancreatic triacylglycerol lipase deficiency.

191 publications have been identified in PubMed for pancreatic triacylglycerol lipase deficiency. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	83	43%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614338

Orphanet

European rare disease database

Orphanet:309031

GARD

Genetic and Rare Diseases Info Center

GARD:17401

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pancreatic triacylglycerol lipase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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