Niemann-Pick Disease (NPD)

Niemann-Pick Disease(来自ICD-11)
别称:
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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Medical Symptom
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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
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相关ID:
MESH:D009542

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MALACARDS
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