Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Clinical subtype Synonyms Intermediate cystinosis Cystynoza młodzieńcza Cystynoza pośrednia Juvenile cystinosis ORPHA code 411634 OMIM code 219900 ICD10 code N16.3* ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl