Table 1.
Monogenic dyslipidemias and dyslipoproteinemias
| Phenotype | Disorder | Alternative name | Gene symbol | Chr |
|---|---|---|---|---|
| High LDL-C | Familial hypercholesterolemia | Hyperlipoproteinemia type 2A | LDLR | 19p13.3 |
| Familial defective apolipoprotein B | Autosomal dominant hypercholesterolemia type 2 (binding-defective apo B) | APOB | 2p24-p23 | |
| Autosomal dominant hypercholesterolemia | Autosomal dominant hypercholesterolemia type 3 (PCSK9 gain-of-function) | PCSK9 | 1p32.3 | |
| Autosomal dominant hypercholesterolemia | Autosomal dominant hypercholesterolemia type 4 | STAP1 | 4q13.2 | |
| Autosomal dominant hypercholesterolemia | Autosomal dominant hypercholesterolemia type 5 | APOE | 19q13 | |
| Autosomal recessive hypercholesterolemia | LDLRAP1 (ARH) | 1p36-p35 | ||
| Cholesterol ester storage disease | Includes Wolman disease | LIPA | 10q21.31 | |
| Sitosterolemia | Phytosterolemia | ABCG5/ABCG8 | 2p21 | |
| Low LDL-C | Abetalipoproteinemia | Bassen-Kornzweig syndrome | MTTP | 4q24 |
| Hypobetalipoproteinemia | APOB | 2p24-p23 | ||
| PCSK9 deficiency with low LDL-C | Hypobetalipoproteinemia (PCSK9 loss-of-function) | PCSK9 | 1p32.3 | |
| Familial combined hypolipidemia | ANGPTL3 deficiency | ANGPTL3 | 1p31.1-p22.3 | |
| Chylomicron retention disease | Anderson disease | SAR1B | 5p31.1 | |
| High HDL-C | Cholesteryl ester transfer protein deficiency | Hyperalphalipoproteinemia | CETP | 16q21 |
| Hepatic lipase deficiency | LIPC | 15q21-q23 | ||
| Scavenger receptor B1 deficiency | SCARB1 | 12q23.31 | ||
| Endothelial lipase deficiency | LIPG | 18q21.1 | ||
| Low HDL-C | Tangier disease | ABCA1 | 9q31 | |
| Apolipoprotein A-I deficiency | APOA1 | 11q23 | ||
| Familial LCAT deficiency (complete or partial) | Includes Fish-eye disease | LCAT | 16q22 | |
| High TG | Lipoprotein lipase deficiency | Familial chylomicronemia | LPL | 8p22 |
| Apolipoprotein C-II deficiency | Familial chylomicronemia | APOC2 | 19q13 | |
| Apolipoprotein A-V deficiency | Severe hypertriglyceridemia | APOA5 | 11q23 | |
| Lipase maturation factor deficiency | Severe hypertriglyceridemia | LMF1 | 16p13.3 | |
| Glycosylphosphatidylinositol anchored HDL binding protein 1 | Severe hypertriglyceridemia | GPIHBP1 | 8q23 | |
| Glycerol-3-phosphate dehydrogenase-1 | Infantile hypertriglyceridemia | GPD1 | 12q13.12 | |
| Dysbetalipoproteinemia | Hyperlipoproteinemia type 3 | APOE | 19q13 |
Chr chromosome, LDL-C low-density lipoprotein cholesterol, HDL-C high-density lipoprotein cholesterol, TG triglyceride