"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
- 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
|
Below are MeSH descriptors whose meaning is more general than "Cystinosis".
Below are MeSH descriptors whose meaning is more specific than "Cystinosis".
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Below are the most recent publications written about "Cystinosis" by people in Profiles.