INFORMATION FOR HEALTH PROFESSIONALS
Cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene leading to the abnormal build-up of the amino acid cystine in cells.
Link to Gene Reviews or Guidelines
- Gene Review – Cystinosis
Further Information
- OMIM – Infantile Cystinosis
- OMIM – Juvenile Cystinosis
- OMIM – Adult Cystinosis
More detailed Information for Health Professionals will be available on the ARRK website in the near future.
If you would like to form or be part of a Disease Specific Research Group (DSRG) for Cystinosis, please contact the ARRK registry (arrkregistry1@gmail.com) or Dr Hugh McCarthy (hugh.mccarthy@health.nsw.gov.au).
The resources on this page provide information for healthcare professionals. If you have questions about a medical condition or health related issue, please consult your medical doctor or a healthcare professional.
This page was last updated on 24th Oct, 2018.