MCID: HYP190
MIFTS: 58

Hypoalphalipoproteinemia, Primary

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

Aliases & Classifications for Hypoalphalipoproteinemia, Primary

MalaCards integrated aliases for Hypoalphalipoproteinemia, Primary:

Name: Hypoalphalipoproteinemia, Primary 57 53
Familial Hypoalphalipoproteinemia 25 59 75 29 6
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
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

Genetics Home Reference : 25 Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50.

MalaCards based summary : Hypoalphalipoproteinemia, Primary, also known as familial hypoalphalipoproteinemia, is related to tangier disease and heart disease. 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 Fenofibrate and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are blurred vision and xanthomatosis

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.

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 72)
# Related Disease Score Top Affiliating Genes
1 tangier disease 28.5 ABCA1 APOA1 APOA2 APOB CETP LCAT
2 heart disease 25.8 ABCA1 APOA1 APOB APOC3 LDLR LPL
3 coronary heart disease 1 24.9 APOA1 APOA2 APOB APOC3 CETP LCAT
4 aapoai amyloidosis 11.9
5 high density lipoprotein cholesterol level quantitative trait locus 1 11.3
6 abdominal obesity-metabolic syndrome 1 10.9
7 apo a-i deficiency 10.6 APOA1 LCAT
8 hereditary amyloidosis 10.4 APOA1 APOA2
9 neuroblastoma 10.4
10 lipase deficiency, combined 10.4 LIPC LPL
11 familial lcat deficiency 10.3 APOA1 APOA2 LCAT
12 fish-eye disease 10.3 APOA1 APOA2 LCAT
13 familial lipoprotein lipase deficiency 10.3 LIPC LPL
14 amyloidosis aa 10.2 APOA1 LCAT
15 hepatic lipase deficiency 10.1 APOA1 LIPC LPL
16 schnyder corneal dystrophy 10.1 APOA2 APOB
17 amenorrhea 10.1
18 dysbaric osteonecrosis 10.1 APOA1 APOB
19 vitamin e, familial isolated deficiency of 10.1 ABCA1 APOA1 APOB
20 fetal macrosomia 10.0 APOA1 APOB LCAT
21 leukodystrophy, hypomyelinating, 3 10.0 APOA1 APOA2 APOB
22 pertussis 10.0
23 ischemic heart disease 9.9 APOA1 APOB LPL
24 dengue virus 9.9
25 dengue disease 9.9
26 dengue hemorrhagic fever 9.9
27 hemorrhagic fever 9.9
28 coronary stenosis 9.9 APOA1 APOB CETP
29 major depressive disorder 9.9
30 depression 9.9
31 amyloidosis 9.9
32 aapoaii amyloidosis 9.9
33 gallbladder disease 9.9 APOA1 APOB CETP
34 breast cancer 9.8
35 fatty liver disease, nonalcoholic 1 9.8
36 gastric cancer 9.8
37 hepatitis 9.8
38 polycystic ovary syndrome 9.8
39 sporadic breast cancer 9.8
40 bardet-biedl syndrome 2 9.7 APOA1 APOC3 LPL
41 peroxisomal acyl-coa oxidase deficiency 9.7 APOC3 PPARA
42 arteriosclerosis 9.6 APOA1 APOB PPARA
43 hypercholesterolemia, autosomal dominant, type b 9.6 APOB LDLR
44 chylomicron retention disease 9.6 APOA1 APOB
45 aortic atherosclerosis 9.6 ABCA1 CETP LDLR
46 macular degeneration, age-related, 1 9.5 ABCA1 APOB LIPC
47 defective apolipoprotein b-100 9.4 APOB LCAT LDLR
48 cerebrovascular disease 9.3 APOA1 APOB LDLR
49 xanthomatosis 9.2 APOB LDLR LPL
50 abetalipoproteinemia 9.2 APOA1 APOB CETP LCAT LPL

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

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 PLTP ABCA1 APOA1 APOB APOC3 CETP
2 Increased LDL uptake GR00340-A-1 8.8 LPL APOA1 LDLR

MGI Mouse Phenotypes related to Hypoalphalipoproteinemia, Primary:

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

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
Fenofibrate Approved Not Applicable 49562-28-9 3339
2
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
4
Nicotinamide Approved, Investigational, Nutraceutical Not Applicable 98-92-0 936
5 Anticholesteremic Agents Not Applicable
6 Antimetabolites Not Applicable
7 Atorvastatin Calcium Not Applicable 134523-03-8
8 Calcium, Dietary Not Applicable
9 Clofibric Acid Not Applicable 882-09-7
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
11 Hypolipidemic Agents Not Applicable
12 Lipid Regulating Agents Not Applicable
13 Micronutrients Not Applicable
14 Nicotinic Acids Not Applicable
15 Trace Elements Not Applicable
16 Vasodilator Agents Not Applicable
17 Vitamin B Complex Not Applicable
18 Vitamins Not Applicable
19 Folate Nutraceutical Not Applicable
20 Vitamin B3 Nutraceutical Not Applicable
21 Vitamin B9 Nutraceutical 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 Not yet recruiting NCT03528031 Not Applicable

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary

Genetic Tests for Hypoalphalipoproteinemia, Primary

Genetic tests related to Hypoalphalipoproteinemia, Primary:

# Genetic test Affiliating Genes
1 Familial Hypoalphalipoproteinemia 29 ABCA1 APOA1

Anatomical Context for Hypoalphalipoproteinemia, Primary

MalaCards organs/tissues related to Hypoalphalipoproteinemia, Primary:

41
Liver, Heart

Publications for Hypoalphalipoproteinemia, Primary

Articles related to Hypoalphalipoproteinemia, Primary:

(show all 21)
# Title Authors Year
1
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. ( 21575609 )
2011
2
Reduced fecal sterol excretion in subjects with familial hypoalphalipoproteinemia. ( 19616211 )
2009
3
Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia. ( 16225879 )
2006
4
Consequences of cholesteryl ester transfer protein inhibition in patients with familial hypoalphalipoproteinemia. ( 16127020 )
2005
5
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. ( 12700344 )
2003
6
ApoA-I(MALLORCA) impairs LCAT activation and induces dominant familial hypoalphalipoproteinemia. ( 11792730 )
2002
7
Increased plasma C-reactive protein in familial hypoalphalipoproteinemia: a proinflammatory condition? ( 11772869 )
2002
8
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23. ( 10775531 )
2000
9
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. ( 10998475 )
2000
10
In vivo metabolism of a mutant form of apolipoprotein A-I, apo A-IMilano, associated with familial hypoalphalipoproteinemia. ( 8473493 )
1993
11
A case report: familial hypoalphalipoproteinemia. ( 8348223 )
1993
12
Familial hypoalphalipoproteinemia in premature coronary artery disease. ( 8241092 )
1993
13
Analysis of familial hypoalphalipoproteinemia syndromes. ( 1518505 )
1992
14
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family. ( 1969839 )
1990
15
Apolipoprotein A-I metabolism in subjects with a PstI restriction fragment length polymorphism of the apoA-I gene and familial hypoalphalipoproteinemia. ( 1981893 )
1990
16
Familial hypoalphalipoproteinemia: definition of two groups based on plasma triglyceride levels. ( 2638523 )
1989
17
Insufficient evidence to invoke defects in or around the A-I gene as the cause for familial hypoalphalipoproteinemia. ( 3118895 )
1987
18
Familial hypoalphalipoproteinemia. ( 3541525 )
1986
19
Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. ( 3081805 )
1986
20
Primary and familial hypoalphalipoproteinemia. ( 6694557 )
1984
21
[Familial hypoalphalipoproteinemia. Vergani's disease]. ( 6657116 )
1983

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 11.49 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 extracellular space GO:0005615 9.96 APOA1 APOA2 APOB APOC3 CETP LCAT
2 early endosome GO:0005769 9.83 APOA1 APOA2 APOB APOC3 LDLR
3 endoplasmic reticulum lumen GO:0005788 9.78 APOA1 APOA2 APOB LIPC
4 low-density lipoprotein particle GO:0034362 9.58 APOA1 APOB LDLR
5 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA2 APOB APOC3 LPL
6 spherical high-density lipoprotein particle GO:0034366 9.54 APOA1 APOA2 APOC3
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.51 APOB LDLR
8 intermediate-density lipoprotein particle GO:0034363 9.5 APOA1 APOB APOC3
9 endocytic vesicle lumen GO:0071682 9.49 APOA1 APOB
10 chylomicron GO:0042627 9.35 APOA1 APOA2 APOB APOC3 LPL
11 high-density lipoprotein particle GO:0034364 9.17 ABCA1 APOA1 APOA2 CETP LCAT LIPC
12 extracellular region GO:0005576 10.11 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 triglyceride homeostasis GO:0070328 9.92 APOA1 APOC3 CETP LIPC LPL
5 cholesterol transport GO:0030301 9.92 ABCA1 APOA1 APOA2 APOB CETP LCAT
6 triglyceride metabolic process GO:0006641 9.91 APOA2 APOC3 CETP LPL
7 triglyceride catabolic process GO:0019433 9.91 APOA1 APOB APOC3 LIPC LPL
8 cellular protein metabolic process GO:0044267 9.89 APOA1 APOA2 APOB
9 receptor-mediated endocytosis GO:0006898 9.89 APOA1 APOB LDLR
10 low-density lipoprotein particle remodeling GO:0034374 9.89 APOA2 APOB CETP LIPC
11 cholesterol efflux GO:0033344 9.89 ABCA1 APOA1 APOA2 APOB APOC3
12 phospholipid efflux GO:0033700 9.88 ABCA1 APOA1 APOA2 APOC3
13 very-low-density lipoprotein particle remodeling GO:0034372 9.88 APOA1 CETP LCAT LIPC LPL
14 phospholipid metabolic process GO:0006644 9.87 APOA1 LCAT LPL
15 chylomicron assembly GO:0034378 9.86 APOA1 APOA2 APOB APOC3
16 cholesterol metabolic process GO:0008203 9.86 ABCA1 APOA1 APOA2 APOB CETP LCAT
17 chylomicron remnant clearance GO:0034382 9.85 APOB APOC3 LDLR LIPC
18 chylomicron remodeling GO:0034371 9.85 APOA1 APOA2 APOB APOC3 LPL
19 lipoprotein biosynthetic process GO:0042158 9.84 ABCA1 APOA1 APOB LCAT
20 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
21 phosphatidylcholine metabolic process GO:0046470 9.81 APOA1 CETP LCAT
22 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.81 ABCA1 CETP PPARA
23 high-density lipoprotein particle assembly GO:0034380 9.8 ABCA1 APOA1 APOA2
24 phospholipid homeostasis GO:0055091 9.8 ABCA1 APOA1 CETP
25 regulation of Cdc42 protein signal transduction GO:0032489 9.79 ABCA1 APOA1 APOC3
26 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.78 APOA1 APOA2 APOC3
27 low-density lipoprotein particle clearance GO:0034383 9.71 APOB LDLR
28 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.71 ABCA1 LDLR
29 negative regulation of lipid catabolic process GO:0050995 9.71 APOA2 APOC3
30 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
31 positive regulation of cholesterol efflux GO:0010875 9.71 ABCA1 PLTP
32 very-low-density lipoprotein particle assembly GO:0034379 9.7 APOB APOC3
33 positive regulation of cholesterol esterification GO:0010873 9.7 APOA1 APOA2
34 high-density lipoprotein particle clearance GO:0034384 9.7 APOA1 APOA2
35 high-density lipoprotein particle remodeling GO:0034375 9.7 APOA1 APOA2 APOC3 CETP LCAT LIPC
36 regulation of lipoprotein lipase activity GO:0051004 9.69 LIPC LPL
37 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
38 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
39 cholesterol import GO:0070508 9.68 APOA1 LDLR
40 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
41 negative regulation of cholesterol storage GO:0010887 9.68 ABCA1 PPARA
42 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA1 APOA2
43 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
44 lipoprotein catabolic process GO:0042159 9.67 APOB LDLR
45 protein oxidation GO:0018158 9.66 APOA1 APOA2
46 negative regulation of cholesterol import GO:0060621 9.65 APOA2 APOC3
47 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
48 lipoprotein metabolic process GO:0042157 9.5 ABCA1 APOA1 APOA2 APOB APOC3 LDLR
49 reverse cholesterol transport GO:0043691 9.17 ABCA1 APOA1 APOA2 APOC3 CETP LCAT
50 lipid metabolic process GO:0006629 10.14 ABCA1 APOA1 APOB 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 9.83 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 9.71 APOA1 APOA2 CETP PLTP
5 apolipoprotein binding GO:0034185 9.65 ABCA1 LIPC LPL
6 lipase inhibitor activity GO:0055102 9.63 APOA1 APOA2 APOC3
7 phospholipid transporter activity GO:0005548 9.62 ABCA1 APOA1 CETP PLTP
8 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
9 low-density lipoprotein particle binding GO:0030169 9.57 LDLR LIPC
10 phospholipase activity GO:0004620 9.56 LIPC LPL
11 high-density lipoprotein particle binding GO:0008035 9.55 APOA1 APOA2
12 cholesterol binding GO:0015485 9.55 ABCA1 APOA1 APOA2 APOC3 CETP
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.54 APOA1 APOA2
14 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
15 apolipoprotein A-I binding GO:0034186 9.52 ABCA1 LCAT
16 apolipoprotein receptor binding GO:0034190 9.51 APOA1 APOA2
17 triglyceride binding GO:0017129 9.49 CETP LPL
18 lipid transporter activity GO:0005319 9.35 APOA1 APOA2 APOB CETP PLTP
19 cholesterol transporter activity GO:0017127 9.02 ABCA1 APOA1 APOA2 APOB CETP

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
Content
Loading form....