Niemann-Pick Disease (NPD)

Alias:
Sphingomyelin/cholesterol Lipidosis
Niemann-Pick Diseases
Sphingomyelin Lipidosis
Lipoid Histiocytosis
Sphingomyelinase Deficiency Disease
Neuronal Cholesterol Lipidosis
Niemann-Pick Disease, Type a
Sphingomyelinase Deficiency
Lipid Histiocytosis
Neuronal Lipidosis
Npd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Niemann-Pick Disease, also known as sphingomyelin/cholesterol lipidosis, is related to niemann-pick disease, type b and niemann-pick disease, type a, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Cholesterol metabolism and Ebola virus infection in host. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spleen, and related phenotypes are nervous system and homeostasis/metabolism
Related ID:
MESH:D009542

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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