Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects. More detailed information about the symptoms, causes, and treatments of Cystinosis is available below.
See full list of 11 symptoms of Cystinosis
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Visit our research pages for current research about Cystinosis treatments.
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Cystinosis include:
See full list of 10 Clinical Trials for Cystinosis
Read about other experiences, ask a question about Cystinosis, or answer someone else's question, on our message boards:
An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. --2004 - (Source - Diseases Database)
Cystinosis is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Cystinosis, or a subtype of Cystinosis,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Cystinosis as a "rare disease".
Source - Orphanet
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