Niemann-Pick Disease, Type A
"Niemann-Pick Disease, Type A" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D052536
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.700.500 C15.604.250.410.625.500 C16.320.565.189.435.825.700.500 C16.320.565.398.641.803.730.500 C16.320.565.595.554.825.700.500 C18.452.132.100.435.825.700.500 C18.452.584.687.803.730.500 C18.452.648.189.435.825.700.500 C18.452.648.398.641.803.730.500 C18.452.648.595.554.825.700.500
|
| Concept/Terms |
Niemann-Pick Disease, Type A- Niemann-Pick Disease, Type A
- Niemann Pick Disease, Type A
- Classical Niemann-Pick Disease
- Classical Niemann Pick Disease
- Niemann-Pick Disease, Classical
- Niemann-Pick Disease, Acute Neuronopathic Form
- Niemann Pick Disease, Acute Neuronopathic Form
- Niemann-Pick Disease, Acute Neurovisceral Form
- Niemann Pick Disease, Acute Neurovisceral Form
- Niemann-Pick Disease, Neuronopathic Type
- Niemann Pick Disease, Neuronopathic Type
- Sphingomyelinase Deficiency Disease
- Sphingomyelinase Deficiency Diseases
- Sphingomyelin Cholesterol Lipidosis
- Cholesterol Lipidoses, Sphingomyelin
- Cholesterol Lipidosis, Sphingomyelin
- Lipidoses, Sphingomyelin Cholesterol
- Lipidosis, Sphingomyelin Cholesterol
- Sphingomyelin Cholesterol Lipidoses
- Type A Niemann-Pick Disease
- Type A Niemann Pick Disease
- Niemann-Pick's Disease Type A
- Niemann Pick's Disease Type A
- Sphingomyelin Lipidosis
- Lipidoses, Sphingomyelin
- Lipidosis, Sphingomyelin
- Sphingomyelin Lipidoses
- Sphingomyelinase Deficiency
- Deficiencies, Sphingomyelinase
- Deficiency, Sphingomyelinase
- Sphingomyelinase Deficiencies
- Neuronal Cholesterol Lipidosis
- Cholesterol Lipidoses, Neuronal
- Cholesterol Lipidosis, Neuronal
- Lipidoses, Neuronal Cholesterol
- Lipidosis, Neuronal Cholesterol
- Neuronal Cholesterol Lipidoses
- Ophthalmoplegia, Supraoptic Vertical
- Ophthalmoplegias, Supraoptic Vertical
- Supraoptic Vertical Ophthalmoplegia
- Supraoptic Vertical Ophthalmoplegias
- Vertical Ophthalmoplegia, Supraoptic
- Vertical Ophthalmoplegias, Supraoptic
|
Below are MeSH descriptors whose meaning is more general than "Niemann-Pick Disease, Type A".
- Diseases [C]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Niemann-Pick Diseases [C18.452.584.687.803.730]
- Niemann-Pick Disease, Type A [C18.452.584.687.803.730.500]
- 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]
- 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]
- 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]
Below are MeSH descriptors whose meaning is more specific than "Niemann-Pick Disease, Type A".
This graph shows the total number of publications written about "Niemann-Pick Disease, Type A" by people in this website by year, and whether "Niemann-Pick Disease, Type A" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Niemann-Pick Disease, Type A" by people in Profiles.
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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. Genet Med. 2023 03; 25(3):100349.