Type C Niemann-Pick Disease

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Niemann-Pick Diseases

Related Concepts

Knowledge Graph

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MeSH Record

Synonyms

32 entry terms

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 Disease, Type C
Niemann Pick Type C Disease
Niemann Pick's Disease Type C
Niemann-Pick Disease Type D
Niemann-Pick Disease, Nova Scotian
Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type D
Niemann-Pick Type D Disease
Niemann-Pick disease, Subacute Juvenile Form
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 D
Niemann Pick Disease, Nova Scotian
Niemann Pick Disease, Type C1
Niemann Pick Disease, Type D
Niemann Pick Type D Disease
Niemann Pick disease, Subacute Juvenile Form
Niemann Pick's Disease Type D
Nova Scotia Niemann Pick Disease (Type D)

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2007; use NIEMANN-PICK DISEASES 2000-2006

MeSH Record

Previous Indexing

Niemann-Pick Diseases (1968-2006)

MeSH Hierarchy

Tree Numbers

C10 w.228 w.140 w.163.100.435.825 w.700 w.875w
C15.604 w.250 w.410 w.625 w.875w
C16 w.320 w.565 w.189.435.825 w.700 w.875w
C16 w.320 w.565 w.398 w.641 w.803 w.730 w.875w
C16 w.320 w.565 w.595 w.554.825 w.700 w.875w
C18.452 w.132.100.435.825 w.700 w.875w
C18.452 w.584 w.563 w.641 w.803 w.730 w.875w
C18.452 w.648 w.189.435.825 w.700 w.875w
C18.452 w.648 w.398 w.641 w.803 w.730 w.875w
C18.452 w.648 w.595 w.554.825 w.700 w.875w

AMA Style

References

National Library of Medicine. Type C Niemann-Pick Disease. Medical Subject Headings (MeSH). 2026. Unique ID D052556. http://id.nlm.nih.gov/mesh/2026/D052556
Type C Niemann-Pick Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease_type_C
Type C Niemann-Pick Disease. In: Wikidata. https://www.wikidata.org/wiki/Q2067267