HDLD2
MCID: HYP190
MIFTS: 60

Hypoalphalipoproteinemia, Primary (HDLD2)

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

Aliases & Classifications for Hypoalphalipoproteinemia, Primary

MalaCards integrated aliases for Hypoalphalipoproteinemia, Primary:

Name: Hypoalphalipoproteinemia, Primary 57 53
Hypoalphalipoproteinemia 57 76 37 55
Familial Hdl Deficiency 57 53 25 73
Hdl Deficiency, Type 2 57 25 13 73
Fha 57 53 25 75
High Density Lipoprotein Deficiency 57 53 73
Hypoalphalipoproteinemia, Familial 57 53 73
Familial Hypoalphalipoproteinemia 25 59 75
Apolipoprotein a-I Deficiency 59 6 73
Hdld 57 53 25
Fhd 57 53
High Density Lipoprotein Deficiency; Hdld 57
Hypoalphalipoproteinemia, Familial; Fha 57
High Density Lipoprotein Deficiency 2 75
Hdl Cholesterol, Low Serum; Hdlc 57
Primary Hypoalphalipoproteinemia 25
Familial Hdl Deficiency; Fhd 57
Hypoalphalipoproteinemia ) 40
Hdl Cholesterol, Low Serum 57
Familial Apoa-I Deficiency 59
Low Serum Hdl Cholesterol 25
Hypoalphalipoproteinemias 73
Apolipoprotein a-I 6
Apoa-I Deficiency 59
Hdld2 75
Hdlc 57

Characteristics:

Orphanet epidemiological data:

59
apolipoprotein a-i deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

32
hypoalphalipoproteinemia, primary:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypoalphalipoproteinemia, Primary

NIH Rare Diseases : 53 Familial HDL deficiency is a rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. This condition is caused by changes in the ABCA1 or the APOA1 genes. The deficiency is passed through families in an autosomal dominant pattern. More severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease.

MalaCards based summary : Hypoalphalipoproteinemia, Primary, also known as hypoalphalipoproteinemia, is related to tangier disease and hypolipoproteinemia. An important gene associated with Hypoalphalipoproteinemia, Primary 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 Fenofibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are splenomegaly and corneal opacity

OMIM : 57 Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). (604091)

UniProtKB/Swiss-Prot : 75 High density lipoprotein deficiency 2: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.

Wikipedia : 76 Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant... more...

Related Diseases for Hypoalphalipoproteinemia, Primary

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

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 tangier disease 31.3 ABCA1 APOA1 APOA2 APOB CETP LCAT
2 hypolipoproteinemia 31.1 ABCA1 APOA1 APOA2 APOB LCAT LPL
3 fish-eye disease 30.2 APOA1 APOA2 LCAT
4 diabetes mellitus 29.9 APOA1 APOB LIPC LPL PPARA
5 ischemic heart disease 29.8 APOA1 APOB LPL
6 hereditary amyloidosis 29.8 APOA1 APOA2
7 amyloidosis aa 29.7 APOA1 LCAT
8 coronary artery anomaly 29.6 APOA1 APOB CETP LPL
9 gallbladder disease 29.5 APOA1 APOB CETP
10 homozygous familial hypercholesterolemia 29.5 APOB LDLR LIPC
11 hyperlipidemia, familial combined 29.4 APOA1 APOA2 APOB APOC3 LPL
12 aortic atherosclerosis 29.4 ABCA1 CETP LDLR
13 hypertriglyceridemia, familial 29.4 APOA1 APOB APOC3 CETP LIPC LPL
14 myocardial infarction 29.3 ABCA1 APOA1 APOA2 APOB APOC3 CETP
15 arteries, anomalies of 29.2 ABCA1 APOA1 APOB CETP LDLR
16 heart disease 29.1 ABCA1 APOA1 APOB APOC3 LDLR LPL
17 atherosclerosis susceptibility 29.1 ABCA1 APOA1 APOB CETP LDLR PPARA
18 vascular disease 28.8 ABCA1 APOA1 APOB CETP LDLR LPL
19 abetalipoproteinemia 28.8 APOA1 APOB CETP LCAT LDLR LPL
20 lecithin:cholesterol acyltransferase deficiency 28.5 APOA1 APOA2 APOB APOC3 CETP LCAT
21 coronary heart disease 1 28.4 ABCA1 APOA1 APOA2 APOB APOC3 CETP
22 diabetes mellitus, noninsulin-dependent 28.3 APOA1 APOA2 APOB APOC3 CETP LCAT
23 hypercholesterolemia, familial 28.3 ABCA1 APOA1 APOA2 APOB APOC3 CETP
24 aapoai amyloidosis 12.1
25 high density lipoprotein cholesterol level quantitative trait locus 1 11.4
26 abdominal obesity-metabolic syndrome 1 11.1
27 neuroblastoma 10.5
28 amenorrhea 10.2
29 apo a-i deficiency 10.2 APOA1 LCAT
30 pertussis 10.1
31 arthritis 10.1
32 lipase deficiency, combined 10.1 LIPC LPL
33 familial lcat deficiency 10.1 APOA1 APOA2 LCAT
34 niemann-pick disease, type b 10.1 ABCA1 APOA1 LCAT
35 rheumatoid arthritis 10.1
36 huntington disease-like 2 10.1
37 hypertriglyceridemia, transient infantile 10.1
38 hepatic lipase deficiency 10.1 APOA1 LIPC LPL
39 dengue virus 10.0
40 dengue disease 10.0
41 dengue hemorrhagic fever 10.0
42 hemorrhagic fever 10.0
43 alzheimer disease 10.0
44 huntington disease-like 1 10.0 APOB CETP
45 vitamin e, familial isolated deficiency of 10.0 ABCA1 APOA1 APOB
46 schnyder corneal dystrophy 10.0 APOA2 APOB
47 leukodystrophy, hypomyelinating, 3 10.0 APOA1 APOA2 APOB
48 aapoaii amyloidosis 10.0
49 fetal macrosomia 10.0 APOA1 APOB LCAT
50 breast cancer 10.0

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia, Primary:



Diseases related to Hypoalphalipoproteinemia, Primary

Symptoms & Phenotypes for Hypoalphalipoproteinemia, Primary

Clinical features from OMIM:

604091

Human phenotypes related to Hypoalphalipoproteinemia, Primary:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
2 corneal opacity 59 32 hallmark (90%) Frequent (79-30%) HP:0007957
3 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
4 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
5 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
6 blurred vision 59 32 frequent (33%) Frequent (79-30%) HP:0000622
7 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
8 abnormality of the liver 59 32 frequent (33%) Frequent (79-30%) HP:0001392
9 xanthomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0000991
10 sudden cardiac death 32 occasional (7.5%) HP:0001645
11 renal insufficiency 32 HP:0000083
12 myocardial infarction 32 hallmark (90%) HP:0001658
13 angina pectoris 32 hallmark (90%) HP:0001681
14 transient ischemic attack 32 hallmark (90%) HP:0002326
15 congestive heart failure 32 HP:0001635
16 abnormality of lipid metabolism 32 hallmark (90%) HP:0003119
17 peptic ulcer 32 HP:0004398
18 atherosclerosis 32 hallmark (90%) HP:0002621
19 xanthelasma 32 hallmark (90%) HP:0001114
20 renal amyloidosis 32 HP:0001917
21 hypoalphalipoproteinemia 59 Frequent (79-30%)
22 hepatic amyloidosis 32 HP:0012280
23 coronary artery atherosclerosis 32 HP:0001677
24 decreased hdl cholesterol concentration 32 frequent (33%) HP:0003233
25 premature coronary artery atherosclerosis 32 very rare (1%) HP:0005181

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.61 ABCA1 APOA1 APOB APOC3 CETP LDLR
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 LDLR LPL

MGI Mouse Phenotypes related to Hypoalphalipoproteinemia, Primary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ABCA1 APOA1 APOB LCAT LDLR LPL
2 homeostasis/metabolism MP:0005376 9.65 ABCA1 APOA1 APOA2 APOB LCAT LDLR
3 liver/biliary system MP:0005370 9.17 ABCA1 APOA1 APOB LCAT LDLR LPL

Drugs & Therapeutics for Hypoalphalipoproteinemia, Primary

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
2
Fenofibrate Approved Not Applicable 49562-28-9 3339
3
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
4
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
5 Vitamin B Complex Not Applicable
6 Vasodilator Agents Not Applicable
7 Vitamin B3 Not Applicable
8 Vitamin B9 Not Applicable
9 Atorvastatin Calcium Not Applicable 134523-03-8
10 Calcium, Dietary Not Applicable
11 Vitamins Not Applicable
12 Anticholesteremic Agents Not Applicable
13 Antimetabolites Not Applicable
14 Hypolipidemic Agents Not Applicable
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
16 Nicotinic Acids Not Applicable
17 Clofibric Acid Not Applicable 882-09-7
18 Trace Elements Not Applicable
19 Lipid Regulating Agents Not Applicable
20 Micronutrients Not Applicable
21 Folate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases Recruiting NCT02697136 Phase 3 CER-001;Placebo
2 High-Density Lipoprotein (HDL) Treatment Study Completed NCT00458055 Not Applicable Atorvastatin; Fenofibrate; Niacin
3 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
4 Habitual Diet and Avocado Trial Recruiting NCT03528031 Not Applicable

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary

Genetic Tests for Hypoalphalipoproteinemia, Primary

Anatomical Context for Hypoalphalipoproteinemia, Primary

MalaCards organs/tissues related to Hypoalphalipoproteinemia, Primary:

41
Heart, Liver, Endothelial, Kidney, Lung, Eye, Ovary

Publications for Hypoalphalipoproteinemia, Primary

Articles related to Hypoalphalipoproteinemia, Primary:

(show all 20)
# Title Authors Year
1
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family. ( 30503498 )
2018
2
A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia. ( 29773422 )
2018
3
Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia. ( 29866657 )
2018
4
Targeted Proteomics Identifies Paraoxonase/Arylesterase 1 (PON1) and Apolipoprotein Cs as Potential Risk Factors for Hypoalphalipoproteinemia in Diabetic Subjects Treated with Fenofibrate and Rosiglitazone. ( 26667175 )
2016
5
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla). ( 26687706 )
2015
6
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
7
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. ( 15722566 )
2005
8
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. ( 15841208 )
2005
9
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. ( 15019541 )
2004
10
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. ( 11181755 )
2001
11
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. ( 10533863 )
1999
12
Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. ( 9888879 )
1999
13
Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I. ( 9555873 )
1998
14
Apolipoprotein A-IFin. Dominantly inherited hypoalphalipoproteinemia due to a single base substitution in the apolipoprotein A-I gene. ( 9012641 )
1997
15
Uptake, transfer, and esterification of cell-derived cholesterol in plasma of patients with familial HDL-deficiency. ( 8767492 )
1996
16
Reverse cholesterol transport in plasma of patients with different forms of familial HDL deficiency. ( 7749883 )
1995
17
Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. ( 7627690 )
1995
18
Familial HDL deficiency due to marked hypercatabolism of normal apoA-I. ( 8364014 )
1993
19
Decreased postprandial response to a fat meal in normotriglyceridemic men with hypoalphalipoproteinemia. ( 8443142 )
1993
20
Lecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease). ( 3122840 )
1988

Variations for Hypoalphalipoproteinemia, Primary

UniProtKB/Swiss-Prot genetic disease variations for Hypoalphalipoproteinemia, Primary:

75
# Symbol AA change Variation ID SNP ID
1 ABCA1 p.Met1091Thr VAR_012628
2 ABCA1 p.Pro2150Leu VAR_012636 rs369098049
3 ABCA1 p.Pro85Leu VAR_017529 rs145183203
4 ABCA1 p.Asp1099Tyr VAR_017530 rs28933692
5 ABCA1 p.Phe2009Ser VAR_037971 rs137854499

ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA1 NM_005502.3(ABCA1): c.2080_2082delCTT (p.Leu694del) deletion Pathogenic rs387906412 GRCh37 Chromosome 9, 107591230: 107591232
2 ABCA1 NM_005502.3(ABCA1): c.2080_2082delCTT (p.Leu694del) deletion Pathogenic rs387906412 GRCh38 Chromosome 9, 104828949: 104828951
3 ABCA1 NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh37 Chromosome 9, 107581111: 107581111
4 ABCA1 NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh38 Chromosome 9, 104818830: 104818830
5 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh37 Chromosome 9, 107550750: 107550750
6 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh38 Chromosome 9, 104788469: 104788469
7 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh37 Chromosome 9, 107576450: 107576453
8 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh38 Chromosome 9, 104814169: 104814172
9 APOA1 NM_000039.2(APOA1): c.589C> T (p.Arg197Cys) single nucleotide variant Pathogenic rs28931573 GRCh37 Chromosome 11, 116706739: 116706739
10 APOA1 NM_000039.2(APOA1): c.589C> T (p.Arg197Cys) single nucleotide variant Pathogenic rs28931573 GRCh38 Chromosome 11, 116836023: 116836023
11 APOA1 NM_000039.2(APOA1): c.500C> G (p.Pro167Arg) single nucleotide variant Pathogenic rs121912719 GRCh37 Chromosome 11, 116706828: 116706828
12 APOA1 NM_000039.2(APOA1): c.500C> G (p.Pro167Arg) single nucleotide variant Pathogenic rs121912719 GRCh38 Chromosome 11, 116836112: 116836112
13 APOA1 NM_000039.2(APOA1): c.391A> T (p.Lys131Ter) single nucleotide variant Pathogenic rs121912716 GRCh37 Chromosome 11, 116706937: 116706937
14 APOA1 NM_000039.2(APOA1): c.391A> T (p.Lys131Ter) single nucleotide variant Pathogenic rs121912716 GRCh38 Chromosome 11, 116836221: 116836221
15 APOA1 NM_000039.2(APOA1): c.664G> A (p.Glu222Lys) single nucleotide variant Pathogenic rs121912717 GRCh37 Chromosome 11, 116706664: 116706664
16 APOA1 NM_000039.2(APOA1): c.664G> A (p.Glu222Lys) single nucleotide variant Pathogenic rs121912717 GRCh38 Chromosome 11, 116835948: 116835948
17 APOA1 NM_000039.2(APOA1): c.478G> A (p.Glu160Lys) single nucleotide variant Pathogenic rs121912718 GRCh37 Chromosome 11, 116706850: 116706850
18 APOA1 NM_000039.2(APOA1): c.478G> A (p.Glu160Lys) single nucleotide variant Pathogenic rs121912718 GRCh38 Chromosome 11, 116836134: 116836134
19 APOA1 NM_000039.2(APOA1): c.80C> G (p.Pro27Arg) single nucleotide variant Pathogenic rs121912720 GRCh37 Chromosome 11, 116707837: 116707837
20 APOA1 NM_000039.2(APOA1): c.80C> G (p.Pro27Arg) single nucleotide variant Pathogenic rs121912720 GRCh38 Chromosome 11, 116837121: 116837121
21 APOA1 NM_000039.2(APOA1): c.83C> G (p.Pro28Arg) single nucleotide variant Pathogenic rs121912721 GRCh37 Chromosome 11, 116707834: 116707834
22 APOA1 NM_000039.2(APOA1): c.83C> G (p.Pro28Arg) single nucleotide variant Pathogenic rs121912721 GRCh38 Chromosome 11, 116837118: 116837118
23 APOA1 NM_000039.2(APOA1): c.566C> G (p.Pro189Arg) single nucleotide variant Pathogenic rs121912722 GRCh37 Chromosome 11, 116706762: 116706762
24 APOA1 NM_000039.2(APOA1): c.566C> G (p.Pro189Arg) single nucleotide variant Pathogenic rs121912722 GRCh38 Chromosome 11, 116836046: 116836046
25 APOA1 APOA1, DEL deletion Pathogenic
26 APOA1 NM_000039.2(APOA1): c.101G> T (p.Arg34Leu) single nucleotide variant Pathogenic rs28929476 GRCh37 Chromosome 11, 116707816: 116707816
27 APOA1 NM_000039.2(APOA1): c.101G> T (p.Arg34Leu) single nucleotide variant Pathogenic rs28929476 GRCh38 Chromosome 11, 116837100: 116837100
28 APOA1 NM_000039.2(APOA1): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912723 GRCh37 Chromosome 11, 116707006: 116707006
29 APOA1 NM_000039.2(APOA1): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912723 GRCh38 Chromosome 11, 116836290: 116836290
30 APOA1 APOA1, 1-BP INS insertion Pathogenic
31 APOA1 NM_000039.2(APOA1): c.539T> A (p.Val180Glu) single nucleotide variant Pathogenic rs121912727 GRCh37 Chromosome 11, 116706789: 116706789
32 APOA1 NM_000039.2(APOA1): c.539T> A (p.Val180Glu) single nucleotide variant Pathogenic rs121912727 GRCh38 Chromosome 11, 116836073: 116836073
33 APOA1 APOA1, IVS2, G-C, +1 single nucleotide variant Pathogenic

Expression for Hypoalphalipoproteinemia, Primary

Search GEO for disease gene expression data for Hypoalphalipoproteinemia, Primary.

Pathways for Hypoalphalipoproteinemia, Primary

Pathways related to Hypoalphalipoproteinemia, Primary according to KEGG:

37
# 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, Primary according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 ABCA1 APOA1 APOA2 APOB APOC3 CETP
2
Show member pathways
12.68 ABCA1 APOA1 APOA2 LPL PPARA
3
Show member pathways
12.49 APOA1 APOA2 APOB APOC3 LDLR LPL
4
Show member pathways
12.23 ABCA1 APOA1 APOA2 APOB APOC3 CETP
5
Show member pathways
12.13 ABCA1 APOA1 APOB LDLR
6
Show member pathways
12.13 APOA1 APOA2 APOB APOC3 LDLR LPL
7 11.5 APOA1 APOA2 APOC3 LPL PLTP PPARA
8
Show member pathways
11.44 ABCA1 APOA1 APOA2 APOB APOC3 CETP
9
Show member pathways
11.3 ABCA1 APOA1 APOB
10 11.09 ABCA1 PPARA
11 11.07 APOA1 APOA2 APOC3 PLTP PPARA
12 10.92 ABCA1 CETP
13 10.91 ABCA1 APOA1 APOA2
14 10.9 APOA1 APOB
15 10.89 ABCA1 LDLR PPARA

GO Terms for Hypoalphalipoproteinemia, Primary

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.83 APOA1 APOA2 APOB APOC3 LDLR
2 endoplasmic reticulum lumen GO:0005788 9.78 APOA1 APOA2 APOB LIPC
3 low-density lipoprotein particle GO:0034362 9.58 APOA1 APOB LDLR
4 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA2 APOB APOC3 LPL
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.51 APOB LDLR
6 spherical high-density lipoprotein particle GO:0034366 9.5 APOA1 APOA2 APOC3
7 endocytic vesicle lumen GO:0071682 9.49 APOA1 APOB
8 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOC3
9 chylomicron GO:0042627 9.35 APOA1 APOA2 APOB APOC3 LPL
10 high-density lipoprotein particle GO:0034364 9.1 APOA1 APOA2 CETP LCAT LIPC PLTP
11 extracellular region GO:0005576 10.11 APOA1 APOA2 APOB APOC3 CETP LCAT
12 extracellular space GO:0005615 10.02 APOA1 APOA2 APOB APOC3 CETP LCAT

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 phospholipid transport GO:0015914 9.97 ABCA1 APOA1 CETP LDLR PLTP
2 lipid catabolic process GO:0016042 9.95 APOB APOC3 LIPC LPL
3 regulation of lipid metabolic process GO:0019216 9.94 ABCA1 APOA1 APOA2 PPARA
4 retinoid metabolic process GO:0001523 9.93 APOA1 APOA2 APOB APOC3
5 triglyceride homeostasis GO:0070328 9.93 APOA1 APOC3 CETP LIPC LPL
6 cholesterol metabolic process GO:0008203 9.92 ABCA1 APOA1 APOA2 APOB CETP LCAT
7 triglyceride metabolic process GO:0006641 9.91 APOA2 APOC3 CETP LPL
8 triglyceride catabolic process GO:0019433 9.91 APOA1 APOB APOC3 LIPC LPL
9 cellular protein metabolic process GO:0044267 9.89 APOA1 APOA2 APOB
10 receptor-mediated endocytosis GO:0006898 9.89 APOA1 APOB LDLR
11 low-density lipoprotein particle remodeling GO:0034374 9.89 APOA2 APOB CETP LIPC
12 cholesterol efflux GO:0033344 9.89 ABCA1 APOA1 APOA2 APOB APOC3
13 phospholipid efflux GO:0033700 9.88 ABCA1 APOA1 APOA2 APOC3
14 very-low-density lipoprotein particle remodeling GO:0034372 9.88 APOA1 CETP LCAT LIPC LPL
15 phospholipid metabolic process GO:0006644 9.86 APOA1 LCAT LPL
16 chylomicron assembly GO:0034378 9.86 APOA1 APOA2 APOB APOC3
17 cholesterol transport GO:0030301 9.86 ABCA1 APOA1 APOA2 APOB CETP LCAT
18 chylomicron remnant clearance GO:0034382 9.85 APOB APOC3 LDLR LIPC
19 chylomicron remodeling GO:0034371 9.85 APOA1 APOA2 APOB APOC3 LPL
20 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
21 lipoprotein biosynthetic process GO:0042158 9.83 ABCA1 APOA1 APOB LCAT
22 high-density lipoprotein particle assembly GO:0034380 9.81 ABCA1 APOA1 APOA2
23 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.81 ABCA1 CETP PPARA
24 high-density lipoprotein particle clearance GO:0034384 9.8 APOA1 APOA2 LDLR
25 phospholipid homeostasis GO:0055091 9.79 ABCA1 APOA1 CETP
26 regulation of Cdc42 protein signal transduction GO:0032489 9.79 ABCA1 APOA1 APOC3
27 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.77 APOA1 APOA2 APOC3
28 low-density lipoprotein particle clearance GO:0034383 9.71 APOB LDLR
29 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.71 ABCA1 LDLR
30 negative regulation of lipid catabolic process GO:0050995 9.71 APOA2 APOC3
31 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
32 positive regulation of cholesterol efflux GO:0010875 9.71 ABCA1 PLTP
33 phosphatidylcholine metabolic process GO:0046470 9.7 CETP LCAT
34 very-low-density lipoprotein particle assembly GO:0034379 9.7 APOB APOC3
35 positive regulation of cholesterol esterification GO:0010873 9.7 APOA1 APOA2
36 high-density lipoprotein particle remodeling GO:0034375 9.7 APOA1 APOA2 APOC3 CETP LCAT LIPC
37 regulation of lipoprotein lipase activity GO:0051004 9.69 LIPC LPL
38 negative regulation of cholesterol storage GO:0010887 9.69 ABCA1 PPARA
39 positive regulation of cholesterol storage GO:0010886 9.68 APOB LPL
40 cholesterol import GO:0070508 9.68 APOA1 LDLR
41 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
42 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
43 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA1 APOA2
44 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
45 protein oxidation GO:0018158 9.67 APOA1 APOA2
46 lipoprotein catabolic process GO:0042159 9.66 APOB LDLR
47 negative regulation of cholesterol import GO:0060621 9.66 APOA2 APOC3
48 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
49 lipoprotein metabolic process GO:0042157 9.5 ABCA1 APOA1 APOA2 APOB APOC3 LDLR
50 reverse cholesterol transport GO:0043691 9.17 ABCA1 APOA1 APOA2 APOC3 CETP LCAT

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.8 ABCA1 APOA1 APOA2 APOB APOC3
2 lipid binding GO:0008289 9.8 APOA1 APOA2 APOB APOC3 CETP PLTP
3 heparin binding GO:0008201 9.76 APOB LIPC LPL
4 phosphatidylcholine binding GO:0031210 9.67 APOA2 CETP PLTP
5 apolipoprotein binding GO:0034185 9.65 ABCA1 LIPC LPL
6 high-density lipoprotein particle binding GO:0008035 9.63 ABCA1 APOA1 APOA2
7 phospholipid transporter activity GO:0005548 9.62 ABCA1 APOA1 CETP PLTP
8 lipase inhibitor activity GO:0055102 9.61 APOA1 APOA2 APOC3
9 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
10 low-density lipoprotein particle binding GO:0030169 9.57 LDLR LIPC
11 phospholipase activity GO:0004620 9.56 LIPC LPL
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.55 APOA1 APOA2
13 cholesterol binding GO:0015485 9.55 ABCA1 APOA1 APOA2 APOC3 CETP
14 apolipoprotein A-I binding GO:0034186 9.54 ABCA1 LCAT
15 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
16 apolipoprotein receptor binding GO:0034190 9.52 APOA1 APOA2
17 triglyceride binding GO:0017129 9.51 CETP LPL
18 cholesterol transporter activity GO:0017127 9.35 ABCA1 APOA1 APOA2 APOB CETP
19 lipid transporter activity GO:0005319 9.1 ABCA1 APOA1 APOA2 APOB CETP PLTP

Sources for Hypoalphalipoproteinemia, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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