Table 3.

Monogenic dyslipidemias and dyslipoproteinemias.

Phenotype	Disorder	Genes Involved	Chromosome	References
High LDL-C	Familial hypercholesterolemia	LDLR	19p13.3	[14,15]
	Familial defective apolipoprotein B	APOB	2p24-p23	[14,15]
	Autosomal dominant hypercholesterolemia type 3 (PCSK9 gain of function)	PCSK9	1p32.3	[14,15]
	Autosomal dominant hypercholesterolemia type 4	STAP1	4q13.2	[14,15]
	Autosomal dominant hypercholesterolemia type 5	APOE	19q13	[14,15]
	Autosomal recessive hypercholesterolemia	LDLRAP1 (ARH)	1p36-p35	[14,15]
	Cholesterol ester storage disease	LIPA	10q21.31	[14,15]
	Sitosterolemia	ABCG5/ABCG8	2p21	[14,15]
Low LDL-C	Abetalipoproteinemia (Bassen–Kornzweig syndrome)	MTTP	4q24	[13,14]
	Hypobetalipoproteinemia	APOB	2p24-p23	[13,14]
	PCSK9 deficiency with low LDL-C levels (PCSK9 loss of function)	PCSK9	1p32.3	[13,14]
	Familial combined hypolipidemia (ANGPTL3 deficiency)	ANGPTL3	1p31.1-p22.3	[13,14]
	Chylomicron retention disease (Anderson disease)	SAR1B	5p31.1	[13,14]