Wolman disease
Findings
No curated finding names Wolman disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.
Definition from the Mondo Disease Ontology (MONDO:0019148), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
21 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.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Acute hepatic failureHPOHP:0006554
- 1 of 1 reported patient
- Adrenal calcificationHPOHP:0010512
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- FeverHPOHP:0001945
- 1 of 1 reported patient
- 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.
- LIPAHGNC:6617
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Wolman disease
- Also called
- Wolman disease with hypolipoproteinemia and acanthocytosisWolman's disease