Structured Summary
Abstract
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.
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Synonyms
18 entry terms
- Cystine Diathesis
- Cystine Disease
- Cystine Storage Disease
- Cystinoses
- Cystinosin, Defect of
- Lysosomal Cystine Transport Protein, Defect Of
- Cystine Diatheses
- Cystine Diseases
- Cystine Storage Diseases
- Defect of Cystinosin
- Diatheses, Cystine
- Diathesis, Cystine
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Cystinosis, Nephropathic
- Nephropathic Cystinosis
- Cystinoses, Nephropathic
- Nephropathic Cystinoses
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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References
- National Library of Medicine. Cystinosis. Medical Subject Headings (MeSH). 2026. Unique ID D003554. http://id.nlm.nih.gov/mesh/2026/D003554
- Cystinosis. In: Wikipedia. https://en.wikipedia.org/wiki/Cystinosis
- Cystinosis. In: Wikidata. https://www.wikidata.org/wiki/Q1149042