Structured Summary
Abstract
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
MeSH Record
Classification
Broader headings
Related Concepts
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MeSH Record
Synonyms
42 entry terms
- Classical Niemann-Pick Disease
- Neuronal Cholesterol Lipidosis
- Niemann-Pick Disease, Acute Neuronopathic Form
- Niemann-Pick Disease, Acute Neurovisceral Form
- Niemann-Pick Disease, Neuronopathic Type
- Niemann-Pick Disease, Type A
- Niemann-Pick's Disease Type A
- Ophthalmoplegia, Supraoptic Vertical
- Sphingomyelin Cholesterol Lipidosis
- Sphingomyelin Lipidosis
- Sphingomyelinase Deficiency
- Sphingomyelinase Deficiency Disease
- Cholesterol Lipidoses, Neuronal
- Cholesterol Lipidoses, Sphingomyelin
- Cholesterol Lipidosis, Neuronal
- Cholesterol Lipidosis, Sphingomyelin
- Classical Niemann Pick Disease
- Deficiencies, Sphingomyelinase
- Deficiency, Sphingomyelinase
- Lipidoses, Neuronal Cholesterol
- Lipidoses, Sphingomyelin
- Lipidoses, Sphingomyelin Cholesterol
- Lipidosis, Neuronal Cholesterol
- Lipidosis, Sphingomyelin
- Lipidosis, Sphingomyelin Cholesterol
- Neuronal Cholesterol Lipidoses
- Niemann Pick Disease, Acute Neuronopathic Form
- Niemann Pick Disease, Acute Neurovisceral Form
- Niemann Pick Disease, Neuronopathic Type
- Niemann Pick Disease, Type A
- Niemann Pick's Disease Type A
- Niemann-Pick Disease, Classical
- Ophthalmoplegias, Supraoptic Vertical
- Sphingomyelin Cholesterol Lipidoses
- Sphingomyelin Lipidoses
- Sphingomyelinase Deficiencies
- Sphingomyelinase Deficiency Diseases
- Supraoptic Vertical Ophthalmoplegia
- Supraoptic Vertical Ophthalmoplegias
- Type A Niemann Pick Disease
- Vertical Ophthalmoplegia, Supraoptic
- Vertical Ophthalmoplegias, Supraoptic
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 (1997-2006)
MeSH Hierarchy
Tree Numbers
- C10w.228w.140w.163.100.435.825w.700w.500w
- C15.604w.250w.410w.625w.500w
- C16w.320w.565w.189.435.825w.700w.500w
- C16w.320w.565w.398w.641w.803w.730w.500w
- C16w.320w.565w.595w.554.825w.700w.500w
- C18.452w.132.100.435.825w.700w.500w
- C18.452w.584w.563w.641w.803w.730w.500w
- C18.452w.648w.189.435.825w.700w.500w
- C18.452w.648w.398w.641w.803w.730w.500w
- C18.452w.648w.595w.554.825w.700w.500w
AMA Style
References
- National Library of Medicine. Type A Niemann-Pick Disease. Medical Subject Headings (MeSH). 2026. Unique ID D052536. http://id.nlm.nih.gov/mesh/2026/D052536
- Type A Niemann-Pick Disease. In: Wikipedia. https://en.wikipedia.org/wiki/SMPD1-associated_Niemann%E2%80%93Pick_disease
- Type A Niemann-Pick Disease. In: Wikidata. https://www.wikidata.org/wiki/Q3281285