Apolipoprotein c-III deficiency(HALP2)

MedGen UID:: 462817
•Concept ID:: C3151467
•: Disease or Syndrome

Synonym:	Hyperalphalipoproteinemia 2

Gene (location): Gene(s) directly associated with this condition or phenotype.	APOC3 (11q23.3)

Monarch Initiative:	MONDO:0013534
OMIM®:	614028

Clinical features

From HPO

Hypotriglyceridemia

MedGen UID:: 488913
•Concept ID:: C0542037
•: Disease or Syndrome

An decrease in the level of triglycerides in the blood.

See: Feature record | Search on this feature

Decreased LDL cholesterol concentration

MedGen UID:: 776554
•Concept ID:: C0853085
•: Finding

An decreased concentration of low-density lipoprotein cholesterol in the blood.

See: Feature record | Search on this feature

Increased HDL cholesterol concentration

MedGen UID:: 1636134
•Concept ID:: C4551591
•: Finding

An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.

See: Feature record | Search on this feature

Abnormality of metabolism/homeostasis

Recent clinical studies

Etiology

Apolipoprotein CIII Deficiency Protects Against Atherosclerosis in Knockout Rabbits.

Yan H, Niimi M, Matsuhisa F, Zhou H, Kitajima S, Chen Y, Wang C, Yang X, Yao J, Yang D, Zhang J, Murakami M, Nakajima K, Wang Y, Liu E, Liang J, Chen YE, Fan J
Arterioscler Thromb Vasc Biol 2020 Sep;40(9):2095-2107. Epub 2020 Aug 6 doi: 10.1161/ATVBAHA.120.314368. PMID: 32757647 Free PMC Article

Effects of APOC3 Heterozygous Deficiency on Plasma Lipid and Lipoprotein Metabolism.

Reyes-Soffer G, Sztalryd C, Horenstein RB, Holleran S, Matveyenko A, Thomas T, Nandakumar R, Ngai C, Karmally W, Ginsberg HN, Ramakrishnan R, Pollin TI
Arterioscler Thromb Vasc Biol 2019 Jan;39(1):63-72. doi: 10.1161/ATVBAHA.118.311476. PMID: 30580564 Free PMC Article

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S
Nature 2017 Apr 12;544(7649):235-239. doi: 10.1038/nature22034. PMID: 28406212 Free PMC Article

See all (3)