Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved. Disease data Classification Clinical subtype Synonyms Hypercalcemic tumoral calcinosis GALNT3-CDG Hiperkalcemiczna kalcynoza guzowata ORPHA code 306661 OMIM code 617994 ICD10 code M11.2 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