Link to this page
Medical Subject Headings
| Preferred Name | Niemann-Pick Disease, Type C | |
| Synonyms |
Niemann Pick Disease with Cholesterol Esterification Block Niemann Pick Type D Disease Niemann Pick Disease without Sphingomyelinase Deficiency Niemann-Pick's Disease Type D Nova Scotia Niemann Pick Disease (Type D) Niemann Pick disease, Subacute Juvenile Form Niemann-Pick Disease Type D Niemann-Pick Disease, Type D Niemann-Pick Disease with Cholesterol Esterification Block Nova Scotia (Type D) Form of Niemann-Pick Disease Nova Scotia Niemann-Pick Disease (Type D) Niemann-Pick Disease, Nova Scotian Niemann Pick Disease, Type C1 Niemann Pick Disease, Nova Scotian Niemann-Pick disease, Subacute Juvenile Form Niemann-Pick Disease, Chronic Neuronopathic Form Niemann Pick Disease Type C Niemann Pick Disease, Type D Niemann-Pick Disease, Type C1 Niemann Pick's Disease Type C Niemann-Pick Disease without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann Pick Disease Type D Niemann Pick Type C Disease Niemann-Pick Type C Disease Niemann-Pick Type D Disease Niemann Pick's Disease Type D Niemann Pick Disease, Type C Niemann Pick Disease, Chronic Neuronopathic Form Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia Niemann-Pick's Disease Type C |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D052556 |
|
| altLabel |
Niemann Pick Disease with Cholesterol Esterification Block Niemann Pick Type D Disease Niemann Pick Disease without Sphingomyelinase Deficiency Niemann-Pick's Disease Type D Nova Scotia Niemann Pick Disease (Type D) Niemann Pick disease, Subacute Juvenile Form Niemann-Pick Disease Type D Niemann-Pick Disease, Type D Niemann-Pick Disease with Cholesterol Esterification Block Nova Scotia (Type D) Form of Niemann-Pick Disease Nova Scotia Niemann-Pick Disease (Type D) Niemann-Pick Disease, Nova Scotian Niemann Pick Disease, Type C1 Niemann Pick Disease, Nova Scotian Niemann-Pick disease, Subacute Juvenile Form Niemann-Pick Disease, Chronic Neuronopathic Form Niemann Pick Disease Type C Niemann Pick Disease, Type D Niemann-Pick Disease, Type C1 Niemann Pick's Disease Type C Niemann-Pick Disease without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann Pick Disease Type D Niemann Pick Type C Disease Niemann-Pick Type C Disease Niemann-Pick Type D Disease Niemann Pick's Disease Type D Niemann Pick Disease, Type C Niemann Pick Disease, Chronic Neuronopathic Form Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia Niemann-Pick's Disease Type C
|
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
|
| cui |
C0220756 C0268247 C3179455
|
|
| DC |
1
|
|
| 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 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.
|
|
| DX |
20070101
|
|
| HN |
2007; use NIEMANN-PICK DISEASES 2000-2006
|
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2007; see NIEMANN-PICK DISEASES 2000-2006
|
|
| Mapped from | ||
| MDA |
20060705
|
|
| MMR |
20210701
|
|
| MN |
C16.320.565.595.554.825.700.875 C15.604.250.410.625.875 C18.452.132.100.435.825.700.875 C10.228.140.163.100.435.825.700.875 C16.320.565.189.435.825.700.875 C18.452.648.189.435.825.700.875 C18.452.584.563.641.803.730.875 C18.452.648.398.641.803.730.875 C18.452.648.595.554.825.700.875 C16.320.565.398.641.803.730.875
|
|
| notation |
D052556
|
|
| prefLabel |
Niemann-Pick Disease, Type C
|
|
| TERMUI |
T751076 T647758 T647759 T647761 T751077 T369752 T781822 T000998967 T000998966 T647760 T000998961 T369747 T369753 T751075 T647724 T369748 T751078
|
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) NLM (2021) NLM (2010) NLM (2007) ORD (2010)
|
|
| tui |
T047
|
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |