juvenile nephropathic cystinosis
Findings
No curated finding names juvenile nephropathic cystinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Definition from the Mondo Disease Ontology (MONDO:0009066), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
41 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.
- Corneal crystalsHPOHP:0000531
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Elevated intracellular cystineHPOHP:0003358
- 2 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients · Juvenile onset
- Frequent (30% to 79% of cases)
- Abnormal cornea morphologyHPOHP:0000481
- Very frequent (80% to 99% of cases)
- AminoaciduriaHPOHP:0003355
- Frequent (30% to 79% of cases)
Show the remaining 29
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Abnormal urine potassium concentrationHPOHP:0012598
- Occasional (5% to 29% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Occasional (5% to 29% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Occasional (5% to 29% of cases)
- Elevated alkaline phosphatase of bone originHPOHP:0010639
- Occasional (5% to 29% of cases)
- Elevated circulating creatinine concentrationHPOHP:0003259
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
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: juvenile nephropathic cystinosis
- Also called
- cystinosis, late-onset juvenile or adolescent nephropathicintermediate cystinosisjuvenile cystinosis