Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic. Disease data Klasyfikacja Disease Synonimy Haptocorrin deficiency Niedobór TCI Niedobór haptokoryny Niedobór transkobalaminy-1 TCI deficiency Transcobalamin-1 deficiency Kod ORPHA 2967 Kod OMIM 193090 Kod ICD10 E53.8 Kod ICD11 5C63.0 *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