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.
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Genetic and Rare Diseases Info Center
Connect with organizations supporting the Niemann-Pick disease community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.