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Nephropathic cystinosis
rareAn 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.
- Identifiers
- MONDO:0100151 OMIM:219800
- Causal genes
- CTNS
- Also known as
- Abderhalden Kaufmann Lignac syndrome · Abderhalden Lignac Kaufmann disease · Abderhalden-Kaufmann-Lignac syndrome · Abderhalden-Lignac-Kaufmann disease · CTNS
Subtypes
| Disease | Subtypes |
|---|---|
| Juvenile nephropathic cystinosis | |
| Nephropathic infantile cystinosis |
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