Related MeSH Hierarchy (10)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Hemic and Lymphatic Diseases [C15] » Lymphatic Diseases » Histiocytosis » Histiocytosis, Non-Langerhans-Cell » Niemann-Pick Diseases
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Niemann-Pick Diseases
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Niemann-Pick Diseases
Description
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. MeSH
Hierarchy View
Subtype Terms (3)
Niemann-Pick Disease, Type A
1 approved drug
Niemann-Pick Disease, Type B
4 drugs (3 approved, 1 experimental)
Niemann-Pick Disease, Type C
12 drugs (6 approved, 6 experimental)
Phase 1 Indicated Drugs (3)
Organization Involved with Phase 4 Indications (1)
Organization Involved with Phase 3 Indications (6)
Organization Involved with Phase 2 Indications (13)
Organization Involved with Phase 1 Indications (4)
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UMLS Data
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