cystinosis
Findings
No curated finding names cystinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
Definition from the Mondo Disease Ontology (MONDO:0016239), read 2026-09-29. CC BY 4.0.
Features
56 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- DehydrationHPOHP:0001944
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
- HypophosphatemiaHPOHP:0002148
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Nephrogenic diabetes insipidusHPOHP:0009806
- Very frequent (80% to 99% of cases)
Show the remaining 44
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- PolydipsiaHPOHP:0001959
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Renal Fanconi syndromeHPOHP:0001994
- Very frequent (80% to 99% of cases)
- Renal tubular dysfunctionHPOHP:0000124
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTNSHGNC:2518
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: cystinosis
- Also called
- cystine storage diseaseProtein defect of cystin transport