Review Article
Genetic Diseases That Predispose to Early Liver Cirrhosis
Table 1
Inherited liver diseases that predispose to early cirrhosis.
| | Disease | Incidence | Gene |
| | Disorders of bile acid synthesis | | | | Wilson disease | 1 : 30,000 | ATP7B | | Progressive familial intrahepatic cholestasis type 3 | 1 : 100,000 | ABCB4 | | Disorders of carbohydrate metabolism | | | | Hereditary fructose intolerance | 1 : 20,000 | ALDOB | | Glycogen storage disease type IV | 1 : 600,000 | GBE1 | | Disorders of amino acids metabolism | | | | Tyrosinemia type I | 1 : 100,000 | FAH | | Urea cycle disorders | | | | Argininosuccinate lyase deficiency | 1 : 70,000 | ASL | | Citrin deficiency (CTLN2, NICCD) | CTLN2 1 : 100,000
NICCD 1 : 19,000 | SLC25A13 | | Disorders of lipid metabolism | | | | Cholesteryl ester storage disease | 1 : 40,000 (Germany)
1 : 300,000–1 : 500,000 | LIPA | | Other diseases | | | | Alpha-1 antitrypsin deficiency | 1 : 2,000–1 : 5,000 | SERPINA1 | | Cystic fibrosis | 1 : 2,500 | CFTR | | Hereditary hemochromatosis | 1 : 250 | HFE | | Alström syndrome | 1 : 1.000.000 | ALMS1 | | Congenital hepatic fibrosis | 1 : 20,000 | Unknown |
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