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Hypoalphalipoproteinemia, primary, 1

MedGen UID:
1684828
•Concept ID:
C5231558
•
Disease or Syndrome
Synonyms: ABCA1-Associated Familial High Density Lipoprotein Deficiency; ABCA1-Related Familial High Density Lipoprotein Deficiency
 
Gene (location): ABCA1 (9q31.1)
 
Monarch Initiative: MONDO:0011393
OMIM®: 604091

Definition

Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. [from MONDO]

Clinical features

From HPO
Myocardial infarction
MedGen UID:
10150
•Concept ID:
C0027051
•
Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
See: Feature record | Search on this feature
Premature coronary artery atherosclerosis
MedGen UID:
356830
•Concept ID:
C1867743
•
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
See: Feature record | Search on this feature
Decreased HDL cholesterol concentration
MedGen UID:
57731
•Concept ID:
C0151691
•
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
See: Feature record | Search on this feature
Hypertriglyceridemia
MedGen UID:
167238
•Concept ID:
C0813230
•
Finding
An abnormal increase in the level of triglycerides in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Clinical utility gene card for: Tangier disease.
Hooper AJ, McCormick SPA, Hegele RA, Burnett JR
Eur J Hum Genet 2017 Jun;25(7):e1-3. Epub 2017 May 24 doi: 10.1038/ejhg.2017.72. PMID: 28537273Free PMC Article
Diagnosis and treatment of high density lipoprotein deficiency.
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Tangier disease: epidemiology, pathophysiology, and management.
Puntoni M, Sbrana F, Bigazzi F, Sampietro T
Am J Cardiovasc Drugs 2012 Oct 1;12(5):303-11. doi: 10.2165/11634140-000000000-00000. PMID: 22913675

Recent clinical studies

Etiology

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR
J Lipid Res 2022 Jun;63(6):100209. Epub 2022 Apr 20 doi: 10.1016/j.jlr.2022.100209. PMID: 35460704Free PMC Article
Cholesterol Efflux Pathways Suppress Inflammasome Activation, NETosis, and Atherogenesis.
Westerterp M, Fotakis P, Ouimet M, Bochem AE, Zhang H, Molusky MM, Wang W, Abramowicz S, la Bastide-van Gemert S, Wang N, Welch CL, Reilly MP, Stroes ES, Moore KJ, Tall AR
Circulation 2018 Aug 28;138(9):898-912. doi: 10.1161/CIRCULATIONAHA.117.032636. PMID: 29588315Free PMC Article
Update on dyslipidemia.
Garg A, Simha V
J Clin Endocrinol Metab 2007 May;92(5):1581-9. doi: 10.1210/jc.2007-0275. PMID: 17483372
ABCA1 and atherosclerosis.
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Analysis of familial hypoalphalipoproteinemia syndromes.
Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505

Diagnosis

Diagnosis and treatment of high density lipoprotein deficiency.
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
ABCA1 and atherosclerosis.
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Analysis of familial hypoalphalipoproteinemia syndromes.
Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505
Apolipoprotein disorders.
Assmann G, Menzel HJ
Ric Clin Lab 1982 Jan-Mar;12(1):63-81. doi: 10.1007/BF02909310. PMID: 6806887
Lipoprotein-X.
Narayanan S
CRC Crit Rev Clin Lab Sci 1979 Aug;11(1):31-51. doi: 10.3109/10408367909105853. PMID: 389551

Therapy

Inhibition of apolipoprotein A-I gene by the aryl hydrocarbon receptor: a potential mechanism for smoking-associated hypoalphalipoproteinemia.
Naem E, Alcalde R, Gladysz M, Mesliniene S, Jaimungal S, Sheikh-Ali M, Haas MJ, Wong NC, Mooradian AD
Life Sci 2012 Jul 26;91(1-2):64-9. Epub 2012 Jun 19 doi: 10.1016/j.lfs.2012.06.002. PMID: 22727790
ABC transporters, atherosclerosis and inflammation.
Fitzgerald ML, Mujawar Z, Tamehiro N
Atherosclerosis 2010 Aug;211(2):361-70. Epub 2010 Jan 21 doi: 10.1016/j.atherosclerosis.2010.01.011. PMID: 20138281Free PMC Article
Update on dyslipidemia.
Garg A, Simha V
J Clin Endocrinol Metab 2007 May;92(5):1581-9. doi: 10.1210/jc.2007-0275. PMID: 17483372
ABCA1 and atherosclerosis.
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Role of membrane organization and membrane domains in endocytic lipid trafficking.
Mukherjee S, Maxfield FR
Traffic 2000 Mar;1(3):203-11. doi: 10.1034/j.1600-0854.2000.010302.x. PMID: 11208103

Prognosis

A proteomic approach to identify novel disease biomarkers in LCAT deficiency.
Simonelli S, Ossoli A, Banfi C, Pavanello C, Calabresi L, Gianazza E
J Proteomics 2019 Apr 30;198:113-118. Epub 2018 Dec 6 doi: 10.1016/j.jprot.2018.12.005. PMID: 30529744
Lipoprotein-X fifty years after its original discovery.
Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707
Hypoalphalipoproteinemia and BRAF(V600E) Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.
Cohen-Aubart F, Guerin M, Poupel L, Cluzel P, Saint-Charles F, Charlotte F, Arsafi Y, Emile JF, Frisdal E, Le Goff C, Donadieu J, Amoura Z, Lesnik P, Haroche J, Le Goff W
Arterioscler Thromb Vasc Biol 2018 Aug;38(8):1913-1925. doi: 10.1161/ATVBAHA.118.310803. PMID: 29930009
ABCA1 and atherosclerosis.
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Primary and familial hypoalphalipoproteinemia.
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

Clinical prediction guides

Tangier disease: update for 2020.
Hooper AJ, Hegele RA, Burnett JR
Curr Opin Lipidol 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669. PMID: 32022754
Lipoprotein-X fifty years after its original discovery.
Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707
Diagnosis and treatment of high density lipoprotein deficiency.
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Primary and familial hypoalphalipoproteinemia.
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557
Familial hypo-alpha-lipoproteinemia.
Vergani C, Bettale G
Clin Chim Acta 1981 Jul 18;114(1):45-52. doi: 10.1016/0009-8981(81)90226-6. PMID: 7249374

Recent systematic reviews

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778Free PMC Article

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      Clinical tests in GTR
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