MCID: HYP121
MIFTS: 43

Hypoalphalipoproteinemia

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypoalphalipoproteinemia

MalaCards integrated aliases for Hypoalphalipoproteinemia:

Name: Hypoalphalipoproteinemia 74 58 36 54 39

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

KEGG 36 H00930
MESH via Orphanet 45 D052456
ICD10 via Orphanet 33 E78.6
UMLS via Orphanet 72 C0473527
Orphanet 58 ORPHA31153

Summaries for Hypoalphalipoproteinemia

KEGG : 36 Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene.

MalaCards based summary : Hypoalphalipoproteinemia is related to hypoalphalipoproteinemia, primary, 1 and hypoalphalipoproteinemia, primary, 2. An important gene associated with Hypoalphalipoproteinemia is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are ABC transporters and PPAR signaling pathway. The drugs Nicotinamide and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and prostate, and related phenotypes are corneal opacity and myocardial infarction

Wikipedia : 74 Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant... more...

Related Diseases for Hypoalphalipoproteinemia

Diseases in the Hypoalphalipoproteinemia family:

Hypoalphalipoproteinemia, Primary, 1 Hypoalphalipoproteinemia, Primary, 2

Diseases related to Hypoalphalipoproteinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 hypoalphalipoproteinemia, primary, 1 32.5 APOA1 ABCA1
2 hypoalphalipoproteinemia, primary, 2 32.4 APOA1 ABCA1
3 tangier disease 31.3 LCAT APOA2 APOA1 ABCA1
4 hypolipoproteinemia 30.6 LCAT APOA2 APOA1 ABCA1
5 hypertriglyceridemia, familial 29.9 LIPC APOA2 APOA1
6 fish-eye disease 29.8 LCAT APOA2 APOA1
7 eye disease 29.8 LCAT APOA2 APOA1
8 familial lcat deficiency 29.5 LCAT APOA2 APOA1
9 hypercholesterolemia, familial, 1 29.3 LIPC LCAT APOA2 APOA1
10 lecithin:cholesterol acyltransferase deficiency 29.2 LCAT APOA2 APOA1
11 coronary heart disease 1 29.0 LIPC LCAT APOA2 APOA1
12 hyperalphalipoproteinemia 1 28.8 LIPC LCAT APOA2 APOA1
13 lipid metabolism disorder 28.8 LIPC LCAT APOA2 APOA1 ABCA1
14 familial hypercholesterolemia 28.7 LIPC LCAT APOA2 APOA1 ABCA1
15 hyperlipidemia, familial combined, 3 28.6 LIPC LCAT APOA2 APOA1
16 lipoprotein quantitative trait locus 28.6 LIPC LCAT APOA2 APOA1 ABCA1
17 atherosclerosis susceptibility 28.5 LIPC LCAT APOA2 APOA1 ABCA1
18 type 2 diabetes mellitus 28.2 LIPC LCAT APOA2 APOA1 ABCA1
19 huntington disease-like 3 10.2
20 huntington disease-like 2 10.2
21 ichthyosis, congenital, autosomal recessive 4a 10.0 APOA1 ABCA1
22 leukodystrophy, hypomyelinating, 3 10.0 APOA2 APOA1
23 hereditary amyloidosis 10.0 APOA2 APOA1
24 arteries, anomalies of 10.0
25 apo a-i deficiency 10.0 LCAT APOA1
26 familial apolipoprotein c-ii deficiency 9.9 APOA2 APOA1
27 hyperlipoproteinemia, type iv 9.9 APOA2 APOA1
28 amyloidosis aa 9.9 LCAT APOA1
29 lipoprotein glomerulopathy 9.9 LCAT APOA2
30 amyloidosis, hereditary, transthyretin-related 9.9 APOA2 APOA1
31 arcus corneae 9.9 LCAT APOA1
32 fetal macrosomia 9.9 LCAT APOA1
33 hypobetalipoproteinemia, familial, 1 9.9 LCAT APOA1
34 carotid artery disease 9.9 APOA2 APOA1
35 abetalipoproteinemia 9.8 LCAT APOA1
36 hepatic lipase deficiency 9.8 LIPC APOA1
37 sarcoidosis 1 9.8
38 afibrinogenemia, congenital 9.8
39 carnitine-acylcarnitine translocase deficiency 9.8
40 homocystinuria due to cystathionine beta-synthase deficiency 9.8
41 homocysteinemia 9.8
42 langerhans cell histiocytosis 9.8
43 high density lipoprotein cholesterol level quantitative trait locus 14 9.8
44 muscle hypertrophy 9.8
45 chlamydia pneumonia 9.8
46 chlamydia 9.8
47 hyperinsulinism 9.8
48 arteriosclerosis 9.8
49 histiocytosis 9.8
50 hermansky-pudlak syndrome 9.8

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia:



Diseases related to Hypoalphalipoproteinemia

Symptoms & Phenotypes for Hypoalphalipoproteinemia

Human phenotypes related to Hypoalphalipoproteinemia:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
2 myocardial infarction 58 31 hallmark (90%) Very frequent (99-80%) HP:0001658
3 angina pectoris 58 31 hallmark (90%) Very frequent (99-80%) HP:0001681
4 transient ischemic attack 58 31 hallmark (90%) Very frequent (99-80%) HP:0002326
5 atherosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002621
6 xanthelasma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001114
7 abnormal circulating lipid concentration 31 hallmark (90%) HP:0003119
8 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
9 abnormality of lipid metabolism 58 Very frequent (99-80%)
10 arrhythmia 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 ABCA1 LIPC

Drugs & Therapeutics for Hypoalphalipoproteinemia

Drugs for Hypoalphalipoproteinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
4 Nutrients Phase 4
5 Micronutrients Phase 4
6 Vitamin B Complex Phase 4
7 Trace Elements Phase 4
8 Vitamins Phase 4
9 Vitamin B3 Phase 4
10 Antimetabolites Phase 4
11 Lipid Regulating Agents Phase 4
12 Nicotinic Acids Phase 4
13 Hypolipidemic Agents Phase 4
14 Folate Phase 4
15 Vitamin B9 Phase 4
16 Vasodilator Agents Phase 4
17
Lycopene Approved, Investigational 502-65-8 446925
18 Tomato Approved

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Short-term Effect of Extended-release Niacin With and Without the Addition of Laropiprant on Endothelial Function Completed NCT01942291 Phase 4 Niacin
2 Phase 3, Multicenter, Randomized, 48 Week, Double Blind, Parallel Group, Placebo Controlled Study to Evaluate Efficacy and Safety of CER-001 on Vessel Wall Area in Patients With Genetically Defined Familial Primary Hypoalphalipoproteinemia Terminated NCT02697136 Phase 3 CER-001;Placebo
3 Effect of Tomato Consumption on Serum High Density Lipoprotein-cholesterol Levels. A Randomized, Open-label, Single Blind, Clinical Trial Completed NCT01342666

Search NIH Clinical Center for Hypoalphalipoproteinemia

Genetic Tests for Hypoalphalipoproteinemia

Anatomical Context for Hypoalphalipoproteinemia

MalaCards organs/tissues related to Hypoalphalipoproteinemia:

40
Endothelial, Eye, Prostate, Monocytes

Publications for Hypoalphalipoproteinemia

Articles related to Hypoalphalipoproteinemia:

(show top 50) (show all 289)
# Title Authors PMID Year
1
Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans. 61 54
19687369 2009
2
Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease. 61 54
19133158 2009
3
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. 54 61
19013296 2008
4
The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the Mexican population: association with obesity and obesity-related comorbidities. 61 54
17287470 2007
5
A novel haplotype in ABCA1 gene effects plasma HDL-C concentration. 61 54
16806540 2007
6
Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. 61 54
16388083 2006
7
[The role of transmembrane lipidtransporter molecules in the atherosclerotic process]. 54 61
16610615 2006
8
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes. 61 54
16115486 2005
9
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 54 61
16121806 2005
10
Inherited disorders of HDL metabolism and atherosclerosis. 54 61
15767853 2005
11
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. 61 54
15292235 2004
12
[Mechanisms of hypo and hyper alphalipoproteinemia in Chilean adults]. 61 54
15382513 2004
13
Mechanisms of HDL deficiency in mice overexpressing human apoA-II. 61 54
12364558 2002
14
Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol. 54 61
12270762 2002
15
Proteolytic degradation and impaired secretion of an apolipoprotein A-I mutant associated with dominantly inherited hypoalphalipoproteinemia. 61 54
11292828 2001
16
Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterol acyltransferase-deficient mice. 54 61
11278414 2001
17
The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux. 54 61
11279031 2001
18
Regulation of lipid and lipoprotein metabolism by PPAR activators. 54 61
10774955 2000
19
Severe atherosclerosis and hypoalphalipoproteinemia in the staggerer mouse, a mutant of the nuclear receptor RORalpha. 54 61
9851961 1998
20
Correction of hypoalphalipoproteinemia in LDL receptor-deficient rabbits by lecithin:cholesterol acyltransferase. 54 61
9717715 1998
21
Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels. 54 61
9555865 1998
22
Genetic polymorphisms and mutations of the lipoprotein lipase gene in Japanese schoolchildren with hypoalphalipoproteinemia. 54 61
9730139 1998
23
High density lipoprotein and coronary heart disease: insights from mutations leading to low high density lipoprotein. 54 61
9253538 1997
24
A natural apolipoprotein A-I variant, apoA-I (L141R)Pisa, interferes with the formation of alpha-high density lipoproteins (HDL) but not with the formation of pre beta 1-HDL and influences efflux of cholesterol into plasma. 61 54
9215551 1997
25
Heterogeneity at the CETP gene locus. Influence on plasma CETP concentrations and HDL cholesterol levels. 61 54
9102177 1997
26
Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser). 61 54
8656071 1995
27
Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia. 61 54
7583547 1995
28
Bimodal distribution of cholesteryl ester transfer protein activities in normotriglyceridemic men with low HDL cholesterol concentrations. 54 61
7749855 1995
29
Microsomal enzyme inducers raise plasma high-density lipoprotein cholesterol levels in healthy control subjects but not in patients with primary hypoalphalipoproteinemia. 54 61
7712672 1995
30
Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent. 54 61
7706936 1995
31
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 61 54
8240372 1993
32
Cardiometabolic factors in pediatric patients with chronic diseases. 61
33558078 2021
33
Polygenic scores for dyslipidemia: the emerging genomic model of plasma lipoprotein trait inheritance. 61
33395106 2020
34
Epstein-Barr virus-induced gene 3 (EBI3) single nucleotide polymorphisms and their association with central obesity and risk factors for cardiovascular disease: The GEA study. 61
32763760 2020
35
No benefit of HDL mimetic CER-001 on carotid atherosclerosis in patients with genetically determined very low HDL levels. 61
32919280 2020
36
Epidemiology and prevalence of hyperuricemia among men and women in Chinese rural population: The Henan Rural Cohort Study. 61
31442098 2020
37
Associations between residential greenness and blood lipids in Chinese Uyghur adults. 61
32603970 2020
38
Is long-term PM1 exposure associated with blood lipids and dyslipidemias in a Chinese rural population? 61
32155508 2020
39
LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters. 61
32058863 2020
40
Dyslipidemia prevalence, awareness, treatment and control in Mexico: results of the Ensanut 2012. 61
32237556 2020
41
Long-term effects of ambient air pollutants to blood lipids and dyslipidemias in a Chinese rural population. 61
31711721 2020
42
Selective Correction of Genotype Yield by Probucol in HDL-Deficient Mice Propagation. 61
31092744 2020
43
The rs2066808 Polymorphism Located Near the IL-23A Gene Is Associated with Premature Coronary Artery Disease in Mexican Population (GEA Study). 61
31237437 2019
44
Paraoxonase-1 activities in individuals with different HDL circulating levels: Implication in reverse cholesterol transport and early vascular damage. 61
31029939 2019
45
Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 61
31164121 2019
46
Progress in finding pathogenic DNA copy number variations in dyslipidemia. 61
30664016 2019
47
HIV disease, metabolic dysfunction and atherosclerosis: A three year prospective study. 61
30998801 2019
48
Association between chronic hepatitis B infection and metabolic syndrome. 61
30918858 2018
49
Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1. 61
30361172 2018
50
Relation of High-Density Lipoprotein Charge Heterogeneity, Cholesterol Efflux Capacity, and the Expression of High-Density Lipoprotein-Related Genes in Mononuclear Cells to the HDL-Cholesterol Level. 61
30430582 2018

Variations for Hypoalphalipoproteinemia

Expression for Hypoalphalipoproteinemia

Search GEO for disease gene expression data for Hypoalphalipoproteinemia.

Pathways for Hypoalphalipoproteinemia

Pathways related to Hypoalphalipoproteinemia according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010
2 PPAR signaling pathway hsa03320
3 Fat digestion and absorption hsa04975
4 Vitamin digestion and absorption hsa04977

Pathways related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 LIPC LCAT APOA2 APOA1 ABCA1
2
Show member pathways
12.35 APOA2 APOA1 ABCA1
3
Show member pathways
11.89 LIPC LCAT APOA2 APOA1 ABCA1
4 11.25 APOA2 APOA1
5
Show member pathways
11.09 LIPC LCAT APOA2 APOA1 ABCA1
6
Show member pathways
10.98 APOA1 ABCA1
7 10.67 APOA2 APOA1
8 10.61 APOA2 APOA1 ABCA1

GO Terms for Hypoalphalipoproteinemia

Cellular components related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.5 LIPC APOA2 APOA1
2 endocytic vesicle GO:0030139 9.37 APOA1 ABCA1
3 very-low-density lipoprotein particle GO:0034361 9.26 APOA2 APOA1
4 chylomicron GO:0042627 9.16 APOA2 APOA1
5 spherical high-density lipoprotein particle GO:0034366 8.96 APOA2 APOA1
6 high-density lipoprotein particle GO:0034364 8.92 LIPC LCAT APOA2 APOA1

Biological processes related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 LIPC LCAT APOA1 ABCA1
2 lipid transport GO:0006869 9.81 APOA2 APOA1 ABCA1
3 steroid metabolic process GO:0008202 9.78 LCAT APOA1 ABCA1
4 regulation of lipid metabolic process GO:0019216 9.75 APOA2 APOA1 ABCA1
5 intermembrane lipid transfer GO:0120009 9.7 APOA2 APOA1 ABCA1
6 phosphatidylcholine biosynthetic process GO:0006656 9.69 LCAT APOA2 APOA1
7 response to nutrient GO:0007584 9.68 APOA1 ABCA1
8 phospholipid metabolic process GO:0006644 9.67 LCAT APOA1
9 retinoid metabolic process GO:0001523 9.67 APOA2 APOA1
10 positive regulation of phagocytosis GO:0050766 9.67 APOA2 APOA1
11 cholesterol efflux GO:0033344 9.67 APOA2 APOA1 ABCA1
12 phospholipid transport GO:0015914 9.66 APOA1 ABCA1
13 triglyceride homeostasis GO:0070328 9.66 LIPC APOA1
14 positive regulation of cholesterol efflux GO:0010875 9.65 APOA1 ABCA1
15 phosphatidylcholine metabolic process GO:0046470 9.65 LCAT APOA1
16 low-density lipoprotein particle remodeling GO:0034374 9.65 LIPC APOA2
17 lipoprotein metabolic process GO:0042157 9.65 APOA2 APOA1 ABCA1
18 cholesterol metabolic process GO:0008203 9.65 LIPC LCAT APOA2 APOA1 ABCA1
19 phospholipid homeostasis GO:0055091 9.64 APOA1 ABCA1
20 chylomicron assembly GO:0034378 9.64 APOA2 APOA1
21 high-density lipoprotein particle clearance GO:0034384 9.63 APOA2 APOA1
22 high-density lipoprotein particle assembly GO:0034380 9.63 APOA2 APOA1 ABCA1
23 chylomicron remodeling GO:0034371 9.62 APOA2 APOA1
24 high-density lipoprotein particle remodeling GO:0034375 9.62 LIPC LCAT APOA2 APOA1
25 positive regulation of cholesterol esterification GO:0010873 9.61 APOA2 APOA1
26 phospholipid efflux GO:0033700 9.61 APOA2 APOA1 ABCA1
27 regulation of Cdc42 protein signal transduction GO:0032489 9.6 APOA1 ABCA1
28 peptidyl-methionine modification GO:0018206 9.59 APOA2 APOA1
29 negative regulation of cytokine production involved in immune response GO:0002719 9.58 APOA2 APOA1
30 very-low-density lipoprotein particle remodeling GO:0034372 9.58 LIPC LCAT APOA1
31 protein oxidation GO:0018158 9.57 APOA2 APOA1
32 negative regulation of lipase activity GO:0060192 9.56 APOA2 APOA1
33 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.55 APOA2 APOA1
34 cholesterol homeostasis GO:0042632 9.55 LIPC LCAT APOA2 APOA1 ABCA1
35 regulation of high-density lipoprotein particle assembly GO:0090107 9.54 LCAT ABCA1
36 lipoprotein biosynthetic process GO:0042158 9.54 LCAT APOA1 ABCA1
37 cholesterol transport GO:0030301 9.35 LIPC LCAT APOA2 APOA1 ABCA1
38 reverse cholesterol transport GO:0043691 9.02 LIPC LCAT APOA2 APOA1 ABCA1

Molecular functions related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.7 APOA2 APOA1 ABCA1
2 phospholipid binding GO:0005543 9.55 APOA2 APOA1
3 heat shock protein binding GO:0031072 9.54 APOA2 APOA1
4 triglyceride lipase activity GO:0004806 9.51 LIPC LCAT
5 cholesterol binding GO:0015485 9.5 APOA2 APOA1 ABCA1
6 apolipoprotein binding GO:0034185 9.49 LIPC ABCA1
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.48 APOA2 APOA1
8 lipase inhibitor activity GO:0055102 9.46 APOA2 APOA1
9 apolipoprotein A-I binding GO:0034186 9.43 LCAT ABCA1
10 phosphatidylcholine binding GO:0031210 9.43 APOA2 APOA1 ABCA1
11 high-density lipoprotein particle receptor binding GO:0070653 9.4 APOA2 APOA1
12 apolipoprotein receptor binding GO:0034190 9.37 APOA2 APOA1
13 lipid transporter activity GO:0005319 9.33 APOA2 APOA1 ABCA1
14 intermembrane cholesterol transfer activity GO:0120020 9.13 APOA2 APOA1 ABCA1
15 high-density lipoprotein particle binding GO:0008035 8.8 APOA2 APOA1 ABCA1

Sources for Hypoalphalipoproteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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