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Apolipoprotein c-III deficiency(HALP2)

MedGen UID:
462817
•Concept ID:
C3151467
•
Disease or Syndrome
Synonym: Hyperalphalipoproteinemia 2
 
Gene (location): 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

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: 32757647Free 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: 30580564Free 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: 28406212Free PMC Article

Prognosis

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: 28406212Free PMC Article

Clinical prediction guides

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: 28406212Free PMC Article

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