TABLE 1.
Phenotype | Gene | MIM Number | Disease | Locus | Number of Exons |
Low HDL-C | ABCA1 | 600046 | Tangier disease | 9q31.1 | 50 |
Low HDL-C | APOA1 | 107680 | ApoA-I deficiency | 11q23-q24 | 5 |
Low HDL-C | APOA2 | 107670 | ApoA-II deficiency | 1q23.3 | 4 |
Low HDL-C | LCAT | 606967 | Familial LCAT deficiency/fish eye disease | 16q22.1 | 6 |
Low HDL-C | NPC1 | 607623 | Niemann-Pick disease | 18q11.2 | 27 |
Low HDL-C | PLTP | 172425 | — | 20q13.12 | 17 |
High HDL-C | CETP | 118470 | — | 16q21 | 17 |
High HDL-C | GALNT2 | 602274 | — | 1q41-q42 | 16 |
High HDL-C | LIPG | 603684 | — | 18q21.1 | 11 |
High HDL-C | SCARB1 | 601040 | — | 12q24.31 | 13 |
High LDL-C | ABCG5 | 605459 | Sitosterolemia | 2p21 | 16 |
High LDL-C | ABCG8 | 605460 | Sitosterolemia | 2p21 | 13 |
High LDL-C/low LDL-C | APOB | 107730 | FH | 2p24-p23 | 29 |
High LDL-C | LDLR | 606945 | FH | 19p13.2 | 18 |
High LDL-C | LDLRAP1 | 605747 | FH | 1p36-p35 | 13 |
High LDL-C/low LDL-C | PCSK9 | 607786 | FH | 1p32.3 | 12 |
Low LDL-C | MTTP | 157147 | Abetalipoproteinemia | 4q24 | 19 |
High TG | APOA5 | 606368 | — | 11q23 | 4 |
High TG | APOC2 | 608083 | Chlyomicronemia | 19q13.2 | 4 |
High TG | APOE | 107741 | Dysbetalipoproteinemia | 19q13.2 | 4 |
High TG | GPIHBP1 | 612757 | — | 8q24.3 | 4 |
High TG | LMF1 | 611761 | — | 16p13.3 | 20 |
High TG | LPL | 609708 | Chlyomicronemia | 8p22 | 10 |
Low TG/high HDL-C | APOC3 | 107720 | — | 11q23.3 | 4 |
High lipoprotein (a) | LPA | 152200 | — | 6q26 | 40 |
Statin myopathy | SLCO1B1 | 604843 | — | 12p | 15 |
The MIM number is from the Online Mendelian Inheritance in Man database. FH, familial hypercholesterolemia.