Niemann-Pick Disease, Type C
"Niemann-Pick Disease, Type C" 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.
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 gene (NPC1) encoding a protein that mediate 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.
| Descriptor ID |
D052556
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.700.875 C15.604.250.410.625.875 C16.320.565.189.435.825.700.875 C16.320.565.398.641.803.730.875 C16.320.565.595.554.825.700.875 C18.452.132.100.435.825.700.875 C18.452.584.687.803.730.875 C18.452.648.189.435.825.700.875 C18.452.648.398.641.803.730.875 C18.452.648.595.554.825.700.875
|
| Concept/Terms |
Niemann-Pick Disease, Type C- Niemann-Pick Disease, Type C
- Niemann Pick Disease, Type C
- Niemann-Pick's Disease Type C
- Niemann Pick's Disease Type C
- Niemann-Pick Disease without Sphingomyelinase Deficiency
- Niemann Pick Disease without Sphingomyelinase Deficiency
- Niemann-Pick Disease, Chronic Neuronopathic Form
- Niemann Pick Disease, Chronic Neuronopathic Form
- Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
- Niemann-Pick Disease with Cholesterol Esterification Block
- Niemann Pick Disease with Cholesterol Esterification Block
Niemann-Pick Disease, Type C1- Niemann-Pick Disease, Type C1
- Niemann-Pick disease, Subacute Juvenile Form
- Niemann Pick disease, Subacute Juvenile Form
Niemann-Pick Disease, Type D- Niemann-Pick Disease, Type D
- Niemann Pick Disease, Type D
- Nova Scotia Niemann-Pick Disease (Type D)
- Nova Scotia Niemann Pick Disease (Type D)
- Niemann-Pick's Disease Type D
- Niemann Pick's Disease Type D
- Nova Scotia (Type D) Form of Niemann-Pick Disease
- Niemann-Pick Disease Type D
- Niemann Pick Disease Type D
- Niemann-Pick Disease, Nova Scotian
- Niemann Pick Disease, Nova Scotian
|
Below are MeSH descriptors whose meaning is more general than "Niemann-Pick Disease, Type C".
- 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 C [C10.228.140.163.100.435.825.700.875]
- 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 C [C15.604.250.410.625.875]
- 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 C [C16.320.565.189.435.825.700.875]
- 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 C [C16.320.565.398.641.803.730.875]
- 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 C [C16.320.565.595.554.825.700.875]
- 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 C [C18.452.132.100.435.825.700.875]
- 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 C [C18.452.584.687.803.730.875]
- 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 C [C18.452.648.189.435.825.700.875]
- 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 C [C18.452.648.398.641.803.730.875]
- 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 C [C18.452.648.595.554.825.700.875]
Below are MeSH descriptors whose meaning is more specific than "Niemann-Pick Disease, Type C".
This graph shows the total number of publications written about "Niemann-Pick Disease, Type C" by people in this website by year, and whether "Niemann-Pick Disease, Type C" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2016 | 2 | 0 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 4 | 0 | 4 |
| 2021 | 3 | 0 | 3 |
| 2022 | 1 | 0 | 1 |
| 2023 | 2 | 0 | 2 |
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Below are the most recent publications written about "Niemann-Pick Disease, Type C" by people in Profiles.
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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. Mol Genet Metab. 2023 11; 140(3):107656.
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Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C. Pediatr Neurol. 2023 07; 144:99-103.
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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.
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The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C. Sci Transl Med. 2021 12; 13(622):eabg2919.
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Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial. Pediatr Neurol. 2022 02; 127:32-38.
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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021 04; 37:100879.
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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. Mol Genet Metab. 2020 12; 131(4):405-417.
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Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul; 41(5):388-396.
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Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-?-cyclodextrin injection. Paediatr Anaesth. 2020 07; 30(7):766-772.
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.