"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.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
| 1999 | 2 | 0 | 2 |
| 2001 | 1 | 1 | 2 |
| 2002 | 1 | 0 | 1 |
| 2003 | 3 | 0 | 3 |
| 2004 | 2 | 0 | 2 |
| 2005 | 3 | 0 | 3 |
| 2006 | 1 | 0 | 1 |
| 2007 | 4 | 0 | 4 |
| 2009 | 4 | 1 | 5 |
| 2010 | 5 | 2 | 7 |
| 2011 | 4 | 0 | 4 |
| 2012 | 7 | 0 | 7 |
| 2013 | 4 | 0 | 4 |
| 2014 | 4 | 0 | 4 |
| 2015 | 5 | 1 | 6 |
| 2016 | 5 | 0 | 5 |
| 2017 | 2 | 0 | 2 |
| 2018 | 2 | 0 | 2 |
| 2019 | 4 | 1 | 5 |
| 2020 | 1 | 0 | 1 |
| 2021 | 6 | 0 | 6 |
| 2022 | 2 | 1 | 3 |
| 2024 | 2 | 0 | 2 |
| 2025 | 2 | 0 | 2 |
| 2026 | 3 | 0 | 3 |
Below are the most recent publications written about "Cystinosis" by people in Profiles.
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Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells. EMBO Rep. 2026 Apr; 27(8):2088-2117.
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Hematopoietic Stem-Cell Gene Therapy for Cystinosis. N Engl J Med. 2026 Feb 19; 394(8):753-762.
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Comprehensive Ocular Characteristics in Cystinosis after Hematopoietic Stem-Cell Gene Therapy Over 24 Months. Am J Ophthalmol. 2026 May; 285:288-299.
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Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients. Sci Rep. 2025 Oct 16; 15(1):36262.
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Novel mechanism for tubular injury in nephropathic cystinosis. Elife. 2025 Mar 20; 13.
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Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis. Mol Cell Biol. 2024; 44(12):577-589.
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Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder. J Cachexia Sarcopenia Muscle. 2024 Dec; 15(6):2447-2459.
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The TGM2 inhibitor cysteamine hydrochloride does not impact corneal epithelial and stromal wound healing in vitro and in vivo. Exp Eye Res. 2023 01; 226:109338.
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Metabolic Advantage of 25(OH)D3 versus 1,25(OH)2D3 Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting. Cells. 2022 10 17; 11(20).
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A Personal History of Cystinosis by Dr. Jerry Schneider. Cells. 2022 03 10; 11(6).