Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. Disease data Classification Disease Synonyms Białkowy defekt transportu cystyny Protein defect of cystin transport ORPHA code 213 OMIM code 219900 ICD10 code E72.0 ICD11 code 5C60.1 *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