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 June 2026
Newly diagnosed with
Juvenile nephropathic cystinosis?
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Advocacy Organizations
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian MPS Society is a charitable organization dedicated to supporting individuals and families affected by mucopolysaccharidoses (MPS) and related lysosomal storage disorders. We are helping families live their best lives.
Cystinosis Research Network
The Cystinosis Research Network is dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis. The CRN’s vision is the acceleration of the discovery of a cure, development of improved treatments and enhancement of quality of life for those with cystinosis.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
LSD Society Pakistan is a registered Non-Profit organization set up by a group of parents dedicated and committed to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public. The objective of LSD Society is to advocate with the government and other stakeholders to establish a sustainable healthcare system
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.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Next Generation of Cystinosis
Next Generation of Cystinosis is a volunteer-run nonprofit founded in 2019 that supports adults (18+) affected by cystinosis. Its mission is to foster open, honest dialogue about their needs and challenges, while providing emotional and psychological support, medically accurate sexual and reproductive health education, and guidance to reliable resources and information.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.