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nephropathic cystinosis
Pathology:
- defect in cystine transport out of lysosomes
- cystine crystals/storage found in pancreatic islet cells, aorta, ovaries, bone marrow, kidneys & brain
Genetics:
- associated with mutations in CTNS gene for cystinosin
Laboratory:
- CTNS gene mutation
Interactions
disease interactions
Related
CTNS gene
General
genetic disease of the kidney
lysosomal storage disease
Database Correlations
OMIM 219800