 Cystinosis
"Cystinosis" 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.
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
| Descriptor ID |
D003554
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| MeSH Number(s) |
C16.320.565.595.377 C18.452.648.595.377
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| Concept/Terms |
Cystinosis- Cystinosis
- Cystine Disease
- Cystine Diseases
- Cystine Storage Disease
- Cystine Storage Diseases
- Disease, Cystine Storage
- Diseases, Cystine Storage
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Nephropathic Cystinosis
- Cystinosin, Defect of
- Cystinosis, Nephropathic
- Cystinoses, Nephropathic
- Nephropathic Cystinoses
- Lysosomal Cystine Transport Protein, Defect Of
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
- Cystinoses
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Below are MeSH descriptors whose meaning is more general than "Cystinosis".
Below are MeSH descriptors whose meaning is more specific than "Cystinosis".
This graph shows the total number of publications written about "Cystinosis" by people in this website by year, and whether "Cystinosis" 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 |
|---|
| 2006 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinosis" by people in Profiles.
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O'Brien K, Hussain N, Warady BA, Kleiner DE, Kleta R, Bernardini I, Heller T, Gahl WA. Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. Clin Gastroenterol Hepatol. 2006 Mar; 4(3):387-94.
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