nephropathic infantile cystinosis
Findings
No curated finding names nephropathic infantile cystinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nephropathic infantile cystinosis is the most common and severe form 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:0018467), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Abnormal circulating electrolyte concentrationHPOHP:0003111
- Very frequent (80% to 99% of cases)
- Abnormal circulating vitamin D concentrationHPOHP:0100511
- Very frequent (80% to 99% of cases)
- Abnormal tubulointerstitial morphologyHPOHP:0001969
- Very frequent (80% to 99% of cases)
- AcidosisHPOHP:0001941
- Very frequent (80% to 99% of cases)
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Corneal crystalsHPOHP:0000531
- Very frequent (80% to 99% of cases)
- DehydrationHPOHP:0001944
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- GlycosuriaHPOHP:0003076
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hyperchloremic metabolic acidosisHPOHP:0004918
- Very frequent (80% to 99% of cases)
Show the remaining 15
- HyperphosphaturiaHPOHP:0003109
- 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)
- Low-molecular-weight proteinuriaHPOHP:0003126
- 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)
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: nephropathic infantile cystinosis
- Also called
- cystinosis, infantile nephropathic