Table 2.
Diseases and Phenotyes Caused by ABC Genes
| Gene | Mendelian disorder | Complex disease |
| ABCA1 | Tangier disease, FHDLD | |
| ABCA4 | Stargardt/FFM, RP, CRD, CD | AMD |
| ABCB1 | Digoxin uptake | |
| ABCB2 | Immune deficiency | |
| ABCB3 | Immune deficiency | |
| ABCB4 | PFIC-3 | ICP |
| ABCB7 | XLSA/A | |
| ABCB11 | PFIC-2 | |
| ABCC2 | Dubin-Johnson Syndrome | |
| ABCC6 | Pseudoxanthoma elasticum | |
| ABCC7 | Cystic Fibrosis, CBAVD | Pancreatitis, bronchiectasis |
| ABCC8 | FPHHI | |
| ABCD1 | ALD | |
| ABCG5 | Sitosterolemia | |
| ABCG8 | Sitisterolemia |
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FHDLD, familial hypoapoproteinemia; FFM, fundus flavimaculatis; RP, retinitis pigmentosum 19; CRD, cone-rod dystrophy; CD, xxxx; AMD, age-related macular degeneration; PFIC, progressive familial intrahepatic cholestasis; ICP, intrahepatic cholestasis of pregnancy; XLSA/A, X-linked sideroblasosis and anemia; FPHHI, familial persistent hyperinsulinemic hypoglycemia of infancy; ALD, adrenoleukodystrophy; IDDM, insulin-dependent diabetes mellitus.
