| Descriptor English: | Niemann-Pick Disease, Type C | ||||||
| Descriptor Spanish: |
Enfermedad de Niemann-Pick Tipo C
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| Descriptor Portuguese: | Doença de Niemann-Pick Tipo C | ||||||
| Descriptor French: | Maladie de Niemann-Pick de 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 C 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 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) Nova Scotia Niemann-Pick Disease (Type D) |
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| 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 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Niemann-Pick Diseases (1968-2006) |
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| Public MeSH Note: | 2007; see NIEMANN-PICK DISEASES 2000-2006 |
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| History Note: | 2007; use NIEMANN-PICK DISEASES 2000-2006 |
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| Entry Version: | NEIMANN PICK DIS TYPE C |
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| DeCS ID: | 52107 | ||||||
| Unique ID: | D052556 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2020/01/16 |
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Niemann-Pick Disease, Type C
- Preferred
Niemann-Pick Disease, Type C1
- Narrower
Niemann-Pick Disease, Type D
- Narrower
| Concept UI |
M0335789 |
| 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. |
| Preferred term | Niemann-Pick Disease, Type C |
| Entry term(s) |
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia Niemann Pick Disease Type C Niemann Pick Disease with Cholesterol Esterification Block Niemann Pick Disease without Sphingomyelinase Deficiency Niemann Pick Disease, Chronic Neuronopathic Form Niemann Pick Disease, Type C Niemann Pick Type C Disease Niemann Pick's Disease Type C Niemann-Pick Disease Type C Niemann-Pick Disease with Cholesterol Esterification Block Niemann-Pick Disease without Sphingomyelinase Deficiency Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Type C Disease Niemann-Pick's Disease Type C |
| Concept UI |
M0552400 |
| Preferred term | Niemann-Pick Disease, Type C1 |
| Entry term(s) |
Niemann Pick Disease, Type C1 Niemann Pick disease, Subacute Juvenile Form Niemann-Pick disease, Subacute Juvenile Form |
| Concept UI |
M0335790 |
| Preferred term | Niemann-Pick Disease, Type D |
| Entry term(s) |
Niemann Pick Disease Type D Niemann Pick Disease, Nova Scotian Niemann Pick Disease, Type D Niemann Pick Type D Disease Niemann Pick's Disease Type D Niemann-Pick Disease Type D Niemann-Pick Disease, Nova Scotian Niemann-Pick Type D Disease Niemann-Pick's Disease Type D Nova Scotia (Type D) Form of Niemann-Pick Disease Nova Scotia Niemann Pick Disease (Type D) Nova Scotia Niemann-Pick Disease (Type D) |
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