pancreatic triacylglycerol lipase deficiency
Findings
No curated finding names pancreatic triacylglycerol lipase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013700), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fat malabsorptionHPOHP:0002630
- 2 of 2 reported patients
- HypocholesterolemiaHPOHP:0003146
- 2 of 2 reported patients
- SteatorrheaHPOHP:0002570
- 2 of 2 reported patients · Neonatal onset
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
Show the remaining 12
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- HemeralopiaHPOHP:0012047
- Occasional (5% to 29% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Occasional (5% to 29% of cases)
- Keratoconjunctivitis siccaHPOHP:0001097
- Occasional (5% to 29% of cases)
- OsteomalaciaHPOHP:0002749
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNLIPHGNC:9155
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: pancreatic triacylglycerol lipase deficiency
- Also called
- pancreatic triglyceride lipase deficiency