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Juvenile nephropathic cystinosis
Disease definition
A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.
ORPHA:411634
Classification level: Subtype of disorder- Synonym(s):
- Intermediate cystinosis
- Juvenile cystinosis
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Childhood, Adolescent
- ICD-10: E72.0+ N16.3*
- OMIM: 219900
- UMLS: C0268626
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2014, pdf)
- Review article
- English (2016)
- Clinical practice guidelines
- Français (2018, pdf)
- English (2019)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.