From: The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy
Diagnosis | ORPHA code | Tx (n. 1,037) | Rare diseases (n. 904) | Monogenic diseases (n. 689) |
---|---|---|---|---|
n. (% respect to total Tx) | n. (% respect to rare diseases) | |||
Acute liver failure—Fulminant or subfulminant hepatic failure |  | 53 |  |  |
Alagille syndrome | 52 | 47 | 47 (4.5) | 47 (5.2) |
Alpha-1 antitrypsin deficiency | 60 | 11 | 11 (1.1) | 11 (1.2) |
Angiosarcoma (neoplasia) | 263,413 | 1 | 1 (0.1) | Â |
Budd-Chiari syndrome | 131 | 5 | 5 (0.5) | 5 (0.5) |
Caroli disease | 53,035 | 6 | 6 (0.6) | Â |
Cholestatic disease—Primary biliary cirrhosis | 186 | 17 | 17 (1.6) |  |
Cholestatic disease—Primary sclerosing cholangitis | 171 | 42 | 42 (4.1) |  |
Cholestatic disease—Other |  | 27 |  |  |
Cholestatic disease—Secondary biliary cirrhosis | 447,774 | 29 | 29 (2.9) |  |
Cirrhosis—Autoimmune | 779 | 8 | 8 (0.8) |  |
Cirrhosis—Other |  | 10 |  |  |
Cirrhosis—Virus related |  | 11 |  |  |
Congenital biliary disease—Extrahepatic biliary atresia | 498,345 | 426 | 426 (41.1) | 426 (47.1) |
Crigler-Najjar syndrome type 1 | 79,234 | 4 | 4 (0.4) | 4 (0.4) |
Cryptogenic cirrhosis | Â | 24 | Â | Â |
Epithelioid hemangioendothelioma (neoplasia) | 157,791 | 3 | 3 (0.3) | Â |
Familial hypercholesterolemia | 391,665 | 1 | 1 (0.1) | Â |
Glycogen storage disease | 79,201 | 6 | 6 (0.6) | 6 (0.6) |
GVHD | 99,921 | 3 | 3 (0.3) | Â |
Hemochromatosis | 220,489 | 5 | 5 (0.5) | 5 (0.5) |
Hepatic trauma | Â | 1 | Â | Â |
Hepatoblastoma (neoplasia) | 449 | 55 | 55 (5.3) | Â |
H epatocellular (neoplasia) | 88,673 | 19 | 19 (1.8) | Â |
Hepatocellular carcinoma—Fibrolamellar (neoplasia) | 401,920 | 2 | 2 (0.2) |  |
Isolated Congenital hepatic fibrosis | 485,426 | 19 | 19 (1.8) | 19 (2.1) |
Langherans cell histiocytosis | 389 | 3 | 3 (0.3) | Â |
Metabolic disease—Cystic fibrosis | 586 | 17 | 17 (1.6) | 17 (1.9) |
Metabolic disease—Others | 91,088 | 49 | 49 (4.7) | 49 (5.4) |
Metabolic disease—Primary hyperoxaluria | 416 | 25 | 25 (2.4) | 25 (2.8) |
Metabolic disease—Tyrosinemia | 882/28378/ 68,723 | 11 | 11 (1.1) | 11 (1.2) |
Methylmalonic acidemia with homocystinuria, type cblD | 79,283 | 3 | 3 (0.3) | 3 (0.3) |
Neonatal intrahepatic cholestasis caused by citrin deficiency | 247,598 | 1 | 1 (0.1) | 1 (0.1) |
Other neoplasia | Â | 7 | Â | Â |
Other rare liver diseases | # | 26 | 26 (2.5) | Â |
Polycystic liver disease | 2924 | 6 | 6 (0.6) | 6 (0.6) |
Progressive familial intrahepatic cholestasis | 172 | 36 | 36 (3.5) | 36 (4.0) |
Wilson disease | 905 | 18 | 18 (1.7) | 18 (2.0) |