 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
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| 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
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| 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
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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.
To see the data from this visualization as text, click here.
| 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 |
To return to the timeline, click here.
Below are the most recent publications written about "Niemann-Pick Disease, Type C" by people in Profiles.
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Pluvinage JV, Sun J, Claes C, Flynn RA, Haney MS, Iram T, Meng X, Lindemann R, Riley NM, Danhash E, Chadarevian JP, Tapp E, Gate D, Kondapavulur S, Cobos I, Chetty S, Pa?ca AM, Pa?ca SP, Berry-Kravis E, Bertozzi CR, Blurton-Jones M, Wyss-Coray T. 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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Farhat N, Bailey L, Friedmann K, Bushnell DM, Rodriguez D, Berry-Kravis E, Porter FD. 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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Berry-Kravis E. Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021 04; 37:100879.
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Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X. 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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Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. 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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Ulloa ML, Froyshteter AB, Kret LN, Chang DP, Sarah GE, McCarthy RJ, Barnes SD, Berry-Kravis EM. Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-ß-cyclodextrin injection. Paediatr Anaesth. 2020 07; 30(7):766-772.
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Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. 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.
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Sidhu R, Mondjinou Y, Qian M, Song H, Kumar AB, Hong X, Hsu FF, Dietzen DJ, Yanjanin NM, Porter FD, Berry-Kravis E, Vite CH, Gelb MH, Schaffer JE, Ory DS, Jiang X. N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease. J Lipid Res. 2019 08; 60(8):1410-1424.
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Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS. Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots. Mol Genet Metab. 2019 02; 126(2):183-187.
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Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, Friedmann K, Hernandez M, Ory DS, Porter FD, O'Keefe JA. Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-ß-Cyclodextrin. Pediatr Neurol. 2018 03; 80:24-34.
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