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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
Hypoalphalipoproteinemia in populations of Native American ancestry: an opportunity to assess the interaction of genes and the environment.
Aguilar-Salinas CA, Canizales-Quinteros S, Rojas-Martínez R, Mehta R, Villarreal-Molina MT, Arellano-Campos O, Riba L, Gómez-Pérez FJ, Tusié-Luna MT
Curr Opin Lipidol 2009 Apr;20(2):92-7. doi: 10.1097/mol.0b013e3283295e96. PMID: 19280764
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

Diagnosis

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.
Furuta Y, Osaki Y, Nakagawa Y, Han SI, Araki M, Shikama A, Ohuchi N, Yamazaki D, Matsuda E, Nohara S, Mizunoe Y, Kainoh K, Suehara Y, Ohno H, Takeuchi Y, Miyamoto T, Murayama Y, Sugano Y, Iwasaki H, Hirano KI, Koseki M, Nakano S, Tokiwa H, Sekiya M, Yahagi N, Matsuzaka T, Nakamagoe K, Tomidokoro Y, Mitsui J, Tsuji S, Suzuki H, Shimano H
J Atheroscler Thromb 2024 Sep 1;31(9):1304-1318. Epub 2024 Mar 28 doi: 10.5551/jat.64579. PMID: 38538338Free 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
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
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

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
Targeted Proteomics Identifies Paraoxonase/Arylesterase 1 (PON1) and Apolipoprotein Cs as Potential Risk Factors for Hypoalphalipoproteinemia in Diabetic Subjects Treated with Fenofibrate and Rosiglitazone.
Ronsein GE, Reyes-Soffer G, He Y, Oda M, Ginsberg H, Heinecke JW
Mol Cell Proteomics 2016 Mar;15(3):1083-93. Epub 2015 Dec 14 doi: 10.1074/mcp.M115.054528. PMID: 26667175Free PMC Article
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

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

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
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, Schaefer EJ
J Lipid Res 2018 Dec;59(12):2421-2435. Epub 2018 Oct 17 doi: 10.1194/jlr.M088203. PMID: 30333156Free PMC Article
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
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

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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