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.
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
- Niemann-Pick Disease, Acute Neuronopathic Form
- Niemann Pick Disease, Acute Neuronopathic Form
- Niemann-Pick's Disease Type A
- Niemann Pick's Disease Type A
- Niemann-Pick Disease, Neuronopathic Type
- Niemann Pick Disease, Neuronopathic Type
- Sphingomyelinase Deficiency Disease
- Sphingomyelinase Deficiency Diseases
- Type A Niemann-Pick Disease
- Type A Niemann Pick Disease
- Classical Niemann-Pick Disease
- Classical Niemann Pick Disease
- Niemann-Pick Disease, Classical
- Niemann-Pick Disease, Acute Neurovisceral Form
- Niemann Pick Disease, Acute Neurovisceral Form
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 Harvard Catalyst Profiles by year, and whether "Niemann-Pick Disease, Type A" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 2 | 0 | 2 |
| 2016 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
Below are the most recent publications written about "Niemann-Pick Disease, Type A" by people in Profiles.
-
Niemann-Pick Type A Disease: Behavior of Neutral Sphingomyelinase and Vitamin D Receptor. Int J Mol Sci. 2019 May 13; 20(9).
-
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. Am J Surg Pathol. 2016 09; 40(9):1232-42.
-
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 2016 07; 118(3):206-213.
-
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. Hum Mutat. 2016 Feb; 37(2):139-47.
-
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):88-97.
-
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). Genet Med. 2016 Jan; 18(1):34-40.
-
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. J Dermatol Sci. 2012 Sep; 67(3):166-72.
-
Photoactivable sphingosine as a tool to study membrane microenvironments in cultured cells. J Lipid Res. 2010 Apr; 51(4):798-808.
-
Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration. Exp Neurol. 2008 Dec; 214(2):181-92.
-
Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice. Brain Res. 2007 Apr 06; 1140:195-204.