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Disease Niemann-Pick Disease, Type C

Name Niemann-Pick Disease, Type C
Synonyms Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia | NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D, INCLUDED | Niemann Pick Disease, Chronic Neuronopathic Form | Niemann-Pick Disease, Chronic Neuronopathic Form | Niemann Pick Disease, Nova Scotian | Niemann-Pick Disease, Nova Scotian | NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED | Niemann Pick disease, Subacute Juvenile Form | Niemann-Pick disease, Subacute Juvenile Form | Niemann Pick Disease, Type C | NIEMANN-PICK DISEASE, TYPE C | Niemann-Pick Disease, Type C1 | Niemann Pick Disease Type D | Niemann Pick Disease, Type D | Niemann-Pick Disease Type D | Niemann-Pick Disease, Type D | Niemann Pick Disease with Cholesterol Esterification Block | Niemann-Pick Disease with Cholesterol Esterification Block | Niemann Pick Disease without Sphingomyelinase Deficiency | Niemann-Pick Disease without Sphingomyelinase Deficiency | Niemann Pick's Disease Type C | Niemann-Pick's Disease Type C | Niemann Pick's Disease Type D | Niemann-Pick's Disease Type D | Nova Scotia Niemann Pick Disease (Type D) | Nova Scotia Niemann-Pick Disease (Type D) | Nova Scotia (Type D) Form of Niemann-Pick Disease | NPC | NPC1
Definition An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
Categories Genetic disease (inborn) | Lymphatic disease | Metabolic disease | Nervous system disease
MeSH® ID D052556
OMIM® ID 257220
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
2. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Histiocytosis Has associated chemicals Has associated genes Histiocytosis, Non-Langerhans-Cell Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type C Has associated chemicals Has associated genes

Top ↑ Descendants

Niemann-Pick Disease, Type C Has associated chemicals Has associated genes
  Niemann-Pick Disease, Nova Scotian Type
  Niemann-Pick disease, type C2 Has associated chemicals Has associated genes