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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
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
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
Inherited disorders of HDL metabolism and atherosclerosis.
Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ
Curr Opin Lipidol 2005 Apr;16(2):139-45. doi: 10.1097/01.mol.0000162318.47172.ef. PMID: 15767853
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

Diagnosis

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
ABCA1, from pathology to membrane function.
Zarubica A, Trompier D, Chimini G
Pflugers Arch 2007 Feb;453(5):569-79. Epub 2006 Jul 21 doi: 10.1007/s00424-006-0108-z. PMID: 16858612
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

A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach.
Karabudak S, Güzel V, Güler B, Uyanık B, Gürsoy AE
J Clin Lipidol 2024 Mar-Apr;18(2):e285-e289. Epub 2023 Dec 2 doi: 10.1016/j.jacl.2023.11.015. PMID: 38172008
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
Effect of lipoprotein-X on lipid metabolism in rat kidney.
O K, Ly M, Fang DZ, Frohlich J, Choy PC
Mol Cell Biochem 1997 Aug;173(1-2):17-24. doi: 10.1023/a:1006836704042. PMID: 9278250

Prognosis

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 determinants of HDL: monogenic disorders and contributions to variation.
Klos KL, Kullo IJ
Curr Opin Cardiol 2007 Jul;22(4):344-51. doi: 10.1097/HCO.0b013e3281a8acad. PMID: 17556888
Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency.
Alrasadi K, Ruel IL, Marcil M, Genest J
Atherosclerosis 2006 Oct;188(2):281-91. Epub 2005 Dec 15 doi: 10.1016/j.atherosclerosis.2005.10.048. PMID: 16343503
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
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denèfle P, Assmann G
Nat Genet 1999 Aug;22(4):352-5. doi: 10.1038/11921. PMID: 10431238

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
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-deficient mice: insights into the role of monocyte lipid efflux in HDL formation and inflammation.
Aiello RJ, Brees D, Francone OL
Arterioscler Thromb Vasc Biol 2003 Jun 1;23(6):972-80. Epub 2003 Jan 9 doi: 10.1161/01.ATV.0000054661.21499.FB. PMID: 12615679
ABC1: the gene for Tangier disease and beyond.
Ordovas JM
Nutr Rev 2000 Mar;58(3 Pt 1):76-9. doi: 10.1111/j.1753-4887.2000.tb01843.x. PMID: 10812922
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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