"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".
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinosis" by people in Profiles.
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Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71.
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A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. Endocrinology. 2015 Jun; 156(6):2349-64.