 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
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Cystinoses
- Lysosomal Cystine Transport Protein, Defect Of
- Cystinosin, Defect of
- Defect of Cystinosin
- Defect of Cystinosins
- Nephropathic Cystinosis
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
- Cystinosis, Nephropathic
- Cystinoses, Nephropathic
- Nephropathic 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 |
|---|
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinosis" by people in Profiles.
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Liu Z, Kompella UB, Chauhan A. Gold nanoparticle synthesis in contact lenses for drug-less ocular cystinosis treatment. Eur J Pharm Biopharm. 2021 Aug; 165:271-278.
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Niemiec S, Ballantyne A, Trauner DA. Cognition in nephropathic cystinosis: pattern of expression in heterozygous carriers. Am J Med Genet A. 2012 Aug; 158A(8):1902-8.
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West JC, Goodman SI, Schr?ter GP, Bloustein PA, Hambidge KM, Weil R. Pediatric kidney transplantation for cystinosis. J Pediatr Surg. 1977 Oct; 12(5):651-5.
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