Type C Niemann-Pick Disease

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 the NPC1 gene, which encodes a protein that mediates 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.

Also Known As:

Niemann Pick Disease, Type C; Niemann Pick Disease, Type D; Niemann-Pick Disease, Type C; Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia; Niemann-Pick Disease Type D; Niemann-Pick Disease with Cholesterol Esterification Block; Niemann-Pick Disease without Sphingomyelinase Deficiency; Niemann-Pick Disease, Chronic Neuronopathic Form; Niemann-Pick Disease, Nova Scotian; Niemann-Pick Disease, Type C1; Niemann-Pick disease, Subacute Juvenile Form; Niemann-Pick's Disease Type C; Niemann-Pick's Disease Type D; Nova Scotia (Type D) Form of Niemann-Pick Disease; Nova Scotia Niemann-Pick Disease (Type D); Niemann Pick Disease Type C; Niemann Pick Disease Type D; Niemann Pick Disease with Cholesterol Esterification Block; Niemann Pick Disease without Sphingomyelinase Deficiency; Niemann Pick Disease, Chronic Neuronopathic Form; Niemann Pick Disease, Nova Scotian; Niemann Pick Disease, Type C1; Niemann Pick Type C Disease; Niemann Pick Type D Disease; Niemann Pick disease, Subacute Juvenile Form; Niemann Pick's Disease Type C; Niemann Pick's Disease Type D; Nova Scotia Niemann Pick Disease (Type D); Niemann-Pick Disease Type C; Niemann-Pick Disease, Type D; Niemann-Pick Type C Disease; Niemann-Pick Type D Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
Hemic and Lymphatic Diseases: 6
- Lymphatic Diseases: 92
  - Histiocytosis: 520
    - Non-Langerhans-Cell Histiocytosis: 87
      - Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
        Type C Niemann-Pick Disease: 826

Hyun-sik Jun Selected Research

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