lysosomal and lipase deficiency
ORPHA: 275761
Overview
lipid storage disease characterized by lysosomal and lipase deficiency
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 lysosomal and lipase deficiency, sourced from HPO and Orphanet clinical annotations.
Renal salt wastingPrimary adrenal insufficiencyJaundicePruritusXanthomatosisXanthelasmaGlobal developmental delayStrokeHepatic fibrosisHepatic failureDecreased liver functionMicrovesicular hepatic steatosisHepatosplenomegalyFailure to thriveAscitesWeight lossAnemiaVacuolated lymphocytesAcidosisDehydrationHypersplenismVomitingDiarrheaNausea and vomitingAbdominal painEsophageal varixPulmonary arterial hypertensionHyperkalemiaHypertriglyceridemiaPsychomotor deteriorationSteatorrheaHypotensionHyponatremiaElevated circulating hepatic transaminase concentrationHypercholesterolemiaElevated circulating alkaline phosphatase concentrationAbdominal distentionHypernatriuriaCachexiaBone-marrow foam cellsMalnutritionPrecocious atherosclerosisFatal liver failure in infancyAdrenal calcificationHypovolemiaFeeding difficultiesAbnormal urine potassium concentrationCognitive impairmentCoronary artery atherosclerosis
Classification & Codes
Orphanet Code
ORPHA:275761lysosomal and lipase deficiency
| Orphanet | ORPHA:275761 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO