Juvenile nephropathic cystinosis

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Juvenile nephropathic cystinosis

Synonyms: Intermediate cystinosis | Juvenile cystinosis

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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Juvenile nephropathic cystinosis?

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Advocacy Organizations

Lysosomal Storage Disorders Support Society

LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.

Canadian Society for Mucopolysaccharide & Related Diseases Inc.

The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.