Apolipoprotein A-I deficiency

A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).



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Narrow down the case reports



Total: 17 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(27.8%)		 7583566
 A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease.
Takata K, Saku K, Ohta T, Takata M, Bai H, Jimi S, Liu R, Sato H, Kajiyama G, Arakawa K.
Arterioscler Thromb Vasc Biol. 1995;15(11):1866-74.
Splenomegaly
APOA1 APOA2 APOB APOC3 APOE LCAT
c|SUB|TGG||TAG p|SUB|W||X
Adult Apolipoprotein A-I Base Sequence Child Homo sapiens Male Molecular Sequence Data Mutation Restriction Mapping Sequence Analysis
2
(26.7%)		 8364014
 Familial HDL deficiency due to marked hypercatabolism of normal apoA-I.
Emmerich J, Verges B, Tauveron I, Rader D, Santamarina-Fojo S, Shaefer J, Ayrault-Jarrier M, Thieblot P, Brewer HB Jr.
Arterioscler Thromb. 1993;13(9):1299-306.
Xanthelasma Hepatosplenomegaly
APOA1
Apolipoprotein A-I Apolipoproteins Base Sequence Females High Density Lipoproteins Homo sapiens Lipids Male Middle Aged Molecular Sequence Data Oligodeoxyribonucleotides Tangier Disease
3
(23.5%)		 11996960
 Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD.
Yokota H, Hashimoto Y, Okubo S, Yumoto M, Mashige F, Kawamura M, Kotani K, Usuki Y, Shimada S, Kitamura K, Nakahara K.
Atherosclerosis. 2002;162(2):399-407.
Hypertension Xanthelasma Impaired glucose tolerance
APOA1
Amino Acid Sequence Apolipoprotein A-I Base Sequence Females Gene Deletion High Density Lipoprotein Cholesterol Homo sapiens Inborn Errors of Metabolism Lipoproteins Molecular Sequence Data Mutation
4
(16.0%)		 17991756
 Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency.
Santos RD, Schaefer EJ, Asztalos BF, Polisecki E, Wang J, Hegele RA, Martinez LR, Miname MH, Rochitte CE, Da Luz PL, Maranhao RC.
J Lipid Res. 2008;49(2):349-57.
Corneal arcus Atherosclerosis Fat malabsorption
APOA1 APOA2 APOA4 APOE
Adult Apolipoprotein A-I Child Child, Preschool Females High Density Lipoprotein Cholesterol High Density Lipoproteins Homo sapiens Hypolipoproteinemias Male Particle Size Xanthomatosis
5
(11.2%)		 8241092
 Familial hypoalphalipoproteinemia in premature coronary artery disease.
Genest J Jr, Bard JM, Fruchart JC, Ordovas JM, Schaefer EJ.
Arterioscler Thromb. 1993;13(12):1728-37.
Hypertriglyceridemia
APOA1 APOB APOC3 APOE NLRP3
Adult Apolipoprotein A-I Apolipoproteins B Females High Density Lipoprotein Cholesterol Homo sapiens Low Density Lipoprotein Receptor Male Middle Aged Mutation Normal Range Particle Size Tangier Disease Triglycerides
5
(11.2%)		 7693760
 High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene.
Lackner KJ, Dieplinger H, Nowicka G, Schmitz G.
J Clin Invest. 1993;92(5):2262-73.
Hypercholesterolemia
APOA1 APOA2 APOA4 APOB APOC3 APOE
Amino Acid Sequence Apolipoprotein A-I Base Sequence Biological Transport Child Cloning, Molecular Females Germany Haplotypes High Density Lipoprotein Cholesterol High Density Lipoproteins Homo sapiens Hypolipoproteinemias Intestines Juvenile Xanthogranuloma Leukocytes Lipoproteins Low Density Lipoprotein Receptor Molecular Sequence Data Point Mutation RNA Sequence Analysis, DNA Tangier Disease
7
(10.8%)		 19473658
 Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion).
Wada M, Iso T, Asztalos BF, Takama N, Nakajima T, Seta Y, Kaneko K, Taniguchi Y, Kobayashi H, Nakajima K, Schaefer EJ, Kurabayashi M.
Atherosclerosis. 2009;207(1):157-61.
Myocardial infarction Atherosclerosis
APOA1
Apolipoprotein A-I Corneal Opacity Coronary Artery Disease DNA Mutational Analysis Down-Regulation Electrophoresis, Gel, Two-Dimensional Genetic Predisposition to Disease Heart Aneurysm Heterozygote High Density Lipoprotein Cholesterol Homo sapiens Homozygote Hypolipoproteinemias Male Middle Aged Myocardial Infarction Phenotype Sequence Deletion Severity of Illness Index Triglycerides
7
(10.8%)		 18841006
 Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction.
Xue XH, Wang N, Lin Y, Zhao GX, Fang L, Murong S, Wu ZY.
Dement Geriatr Cogn Disord. 2008;26(3):234-8.
Dementia Atherosclerosis
ABCA1
p|SUB|Y|2206|D
ATP Binding Cassette Transporter 1 ATP-Binding Cassette Transporters Asians Cerebral Infarction Dementia High Density Lipoprotein Cholesterol Homo sapiens Hypoalphalipoproteinemias Intracranial Arteriosclerosis Intracranial Thrombosis Male Middle Aged Point Mutation
7
(10.8%)		 8348223
 A case report: familial hypoalphalipoproteinemia.
Tamugur E, Oren B, Buyukgebiz A.
J Pediatr Endocrinol. 1993;6(2):185-90.
Atherosclerosis
Apolipoprotein A-I Child Females High Density Lipoprotein Cholesterol Homo sapiens Tangier Disease
7
(10.8%)		 8282791
 Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.
Ng DS, Leiter LA, Vezina C, Connelly PW, Hegele RA.
J Clin Invest. 1994;93(1):223-9.
Retinopathy Atherosclerosis
APOA1 APOA2
rs387906570
Adult Amino Acid Sequence Apolipoprotein A-I Apolipoproteins Base Sequence Cloning, Molecular DNA DNA Primers Exons Females High Density Lipoprotein Cholesterol High Density Lipoproteins Homo sapiens Male Molecular Sequence Data Point Mutation Polymerase Chain Reaction Triglycerides
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000622 Blurred vision Frequent (79-30%)
HP:0000991 Xanthomatosis Frequent (79-30%)
HP:0001392 Abnormality of the liver Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001903 Anemia Frequent (79-30%)
HP:0002716 Lymphadenopathy Frequent (79-30%)
HP:0003233 Decreased HDL cholesterol concentration Frequent (79-30%)
HP:0003457 EMG abnormality Frequent (79-30%)
HP:0004374 Hemiplegia/hemiparesis Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0002621 Atherosclerosis 4
HP:0000488 Retinopathy 1
HP:0000726 Dementia 1
HP:0002630 Fat malabsorption 1
HP:0007957 Corneal opacity 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
APOA1 apolipoprotein A1 335
ABCA1 ATP binding cassette subfamily A member 1 19