Niemann-Pick disease
MONDO:0001982Mondo
Findings
No curated finding names Niemann-Pick disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
Definition from the Mondo Disease Ontology (MONDO:0001982), read 2026-09-29. CC BY 4.0.
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.
- SMPD1HGNC:11120
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Niemann-Pick disease
- Also called
- lipoid histiocytosis (classical phosphatide)Niemann-Pick disease with cholesterol esterification blockNiemann-Pick disease, subacute juvenile formsphingomyelin/cholesterol lipidosis