pancreatic triacylglycerol lipase deficiency
ORPHA: 309031
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pancreatic triacylglycerol lipase deficiency, sourced from HPO and Orphanet clinical annotations.
Exocrine pancreatic insufficiencyWeight lossAbdominal painSteatorrheaAbdominal distentionReduced circulating vitamin A concentrationDecreased circulating vitamin K concentrationFatigueDecreased circulating vitamin D concentrationDecreased circulating vitamin E concentrationOsteoporosisKeratoconjunctivitis siccaGrowth delayIron deficiency anemiaDiarrheaRicketsOsteomalaciaHemeralopiaAbnormality of the nervous systemEdemaColitis
Classification & Codes
Orphanet Code
ORPHA:309031pancreatic triacylglycerol lipase deficiency
| Orphanet | ORPHA:309031 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO