nephropathic cystinosis
Findings
No curated finding names nephropathic cystinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0100151), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
48 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
- 1 of 1 reported patient
- BlindnessHPOHP:0000618
- 1 of 1 reported patient · Young adult onset
- 0 of 23 reported patients
- Bone marrow cystine accumulationHPOHP:6001033
- 10 of 10 reported patients
- Corneal crystalsHPOHP:0000531
- 187 of 187 reported patients
- DehydrationHPOHP:0001944
- 2 of 2 reported patients · Infantile onset
- Elevated leukocyte cystineHPOHP:0032639
- 15 of 15 reported patients
Show the remaining 36
- HypomagnesemiaHPOHP:0002917
- 2 of 2 reported patients
- HyponatremiaHPOHP:0002902
- 2 of 2 reported patients
- HypophosphatemiaHPOHP:0002148
- 1 of 1 reported patient
- Hypopigmentation of hairHPOHP:0005599
- 2 of 2 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 2 of 2 reported patients
- Kidney stoneHPOHP:0000787
- 2 of 2 reported patients
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 · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- Narrower terms (2)
Other names
7 names
Resolves to: nephropathic cystinosis
- Also called
- Abderhalden Kaufmann Lignac syndromeAbderhalden Lignac Kaufmann diseaseAbderhalden-Kaufmann-Lignac syndromeAbderhalden-Lignac-Kaufmann diseaseCTNScystinosis, atypical nephropathiccystinosis, nephropathic