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
|
MeSH Number(s) |
C16.320.565.595.377 C18.452.648.595.377
|
Concept/Terms |
Cystinosis- Cystinosis
- Cystinoses
- Cystine Disease
- Cystine Diseases
- Cystine Storage Disease
- Cystine Storage Diseases
- Disease, Cystine Storage
- Diseases, Cystine Storage
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
|
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 UAMS Profiles by year, and whether "Cystinosis" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
---|
2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinosis" by people in Profiles over the past ten years.
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Broyles HV, Dockery PW, Warner DB. Corneal cystinosis following eight years of systemic and topical treatment. J Fr Ophtalmol. 2023 06; 46(6):671-672.