MeSH Browser

MeSH Heading: Niemann-Pick Disease, Type C
Tree Number(s): C10.228.140.163.100.435.825.700.875; C15.604.250.410.625.875; C16.320.565.189.435.825.700.875; C16.320.565.398.641.803.730.875; C16.320.565.595.554.825.700.875; C18.452.132.100.435.825.700.875; C18.452.584.563.641.803.730.875; C18.452.648.189.435.825.700.875; C18.452.648.398.641.803.730.875; C18.452.648.595.554.825.700.875
Unique ID: D052556
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D052556
Scope Note: 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.
Entry Version: NEIMANN PICK DIS TYPE C
Entry Term(s): Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia; 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 Disease, Type D; 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 (Type D) Form of Niemann-Pick Disease; Nova Scotia Niemann-Pick Disease (Type D)
Previous Indexing: Niemann-Pick Diseases (1968-2006)
Public MeSH Note: 2007; see NIEMANN-PICK DISEASES 2000-2006
History Note: 2007; use NIEMANN-PICK DISEASES 2000-2006
Date Established: 2007/01/01
Date of Entry: 2006/07/05
Revision Date: 2021/07/01

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]
        
        Niemann-Pick Diseases [C10.228.140.163.100.435.825.700]
        
        Niemann-Pick Disease, Type A [C10.228.140.163.100.435.825.700.500]
        
        Niemann-Pick Disease, Type B [C10.228.140.163.100.435.825.700.750]
        
        Niemann-Pick Disease, Type C [C10.228.140.163.100.435.825.700.875]

Hemic and Lymphatic Diseases [C15]
- Lymphatic Diseases [C15.604]
  - Histiocytosis [C15.604.250]
    - Histiocytosis, Non-Langerhans-Cell [C15.604.250.410]
      - Niemann-Pick Diseases [C15.604.250.410.625]
        
        Niemann-Pick Disease, Type A [C15.604.250.410.625.500]
        
        Niemann-Pick Disease, Type B [C15.604.250.410.625.750]
        
        Niemann-Pick Disease, Type C [C15.604.250.410.625.875]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
        
        Sphingolipidoses [C16.320.565.189.435.825]
        
        Niemann-Pick Diseases [C16.320.565.189.435.825.700]
        
        Niemann-Pick Disease, Type A [C16.320.565.189.435.825.700.500]
        
        Niemann-Pick Disease, Type B [C16.320.565.189.435.825.700.750]
        
        Niemann-Pick Disease, Type C [C16.320.565.189.435.825.700.875]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lipid Metabolism, Inborn Errors [C16.320.565.398]
      - Lipidoses [C16.320.565.398.641]
        
        Sphingolipidoses [C16.320.565.398.641.803]
        
        Niemann-Pick Diseases [C16.320.565.398.641.803.730]
        
        Niemann-Pick Disease, Type A [C16.320.565.398.641.803.730.500]
        
        Niemann-Pick Disease, Type B [C16.320.565.398.641.803.730.750]
        
        Niemann-Pick Disease, Type C [C16.320.565.398.641.803.730.875]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lysosomal Storage Diseases [C16.320.565.595]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Sphingolipidoses [C16.320.565.595.554.825]
        
        Niemann-Pick Diseases [C16.320.565.595.554.825.700]
        
        Niemann-Pick Disease, Type A [C16.320.565.595.554.825.700.500]
        
        Niemann-Pick Disease, Type B [C16.320.565.595.554.825.700.750]
        
        Niemann-Pick Disease, Type C [C16.320.565.595.554.825.700.875]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
        
        Sphingolipidoses [C18.452.132.100.435.825]
        
        Niemann-Pick Diseases [C18.452.132.100.435.825.700]
        
        Niemann-Pick Disease, Type A [C18.452.132.100.435.825.700.500]
        
        Niemann-Pick Disease, Type B [C18.452.132.100.435.825.700.750]
        
        Niemann-Pick Disease, Type C [C18.452.132.100.435.825.700.875]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Lipid Metabolism Disorders [C18.452.584]
    - Lipid Metabolism, Inborn Errors [C18.452.584.563]
      - Lipidoses [C18.452.584.563.641]
        
        Sphingolipidoses [C18.452.584.563.641.803]
        
        Niemann-Pick Diseases [C18.452.584.563.641.803.730]
        
        Niemann-Pick Disease, Type A [C18.452.584.563.641.803.730.500]
        
        Niemann-Pick Disease, Type B [C18.452.584.563.641.803.730.750]
        
        Niemann-Pick Disease, Type C [C18.452.584.563.641.803.730.875]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
        
        Sphingolipidoses [C18.452.648.189.435.825]
        
        Niemann-Pick Diseases [C18.452.648.189.435.825.700]
        
        Niemann-Pick Disease, Type A [C18.452.648.189.435.825.700.500]
        
        Niemann-Pick Disease, Type B [C18.452.648.189.435.825.700.750]
        
        Niemann-Pick Disease, Type C [C18.452.648.189.435.825.700.875]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lipid Metabolism, Inborn Errors [C18.452.648.398]
      - Lipidoses [C18.452.648.398.641]
        
        Sphingolipidoses [C18.452.648.398.641.803]
        
        Niemann-Pick Diseases [C18.452.648.398.641.803.730]
        
        Niemann-Pick Disease, Type A [C18.452.648.398.641.803.730.500]
        
        Niemann-Pick Disease, Type B [C18.452.648.398.641.803.730.750]
        
        Niemann-Pick Disease, Type C [C18.452.648.398.641.803.730.875]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Sphingolipidoses [C18.452.648.595.554.825]
        
        Niemann-Pick Diseases [C18.452.648.595.554.825.700]
        
        Niemann-Pick Disease, Type A [C18.452.648.595.554.825.700.500]
        
        Niemann-Pick Disease, Type B [C18.452.648.595.554.825.700.750]
        
        Niemann-Pick Disease, Type C [C18.452.648.595.554.825.700.875]

Niemann-Pick Disease, Type C Preferred

Niemann-Pick Disease, Type C1 Narrower

Niemann-Pick Disease, Type D Narrower

Niemann-Pick Disease, Type C MeSH Descriptor Data 2024