HDLD2
MCID: HYP121
MIFTS: 61

Hypoalphalipoproteinemia (HDLD2) malady

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

Aliases & Classifications for Hypoalphalipoproteinemia

Aliases & Descriptions for Hypoalphalipoproteinemia:

Name: Hypoalphalipoproteinemia 54 29 52
Hdl Deficiency, Type 2 54 25 13 69
Familial Hypoalphalipoproteinemia 25 56 66
Familial Hdl Deficiency 50 25 69
Fha 50 25 66
High Density Lipoprotein Deficiency 50 69
Hypoalphalipoproteinemia, Familial 50 69
Hypoalphalipoproteinemia, Primary 54 50
Apolipoprotein a-I Deficiency 56 69
Hdld 50 25
High Density Lipoprotein Deficiency 2 66
Familial Hypoalphalipo-Proteinemia 29
Primary Hypoalphalipoproteinemia 25
Familial Apoa-I Deficiency 56
Low Serum Hdl Cholesterol 25
Hypoalphalipoproteinemias 69
Apoa-I Deficiency 56
Hdld2 66
Fhd 50

Characteristics:

Orphanet epidemiological data:

56
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:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604091
Orphanet 56 ORPHA425
ICD10 via Orphanet 34 E78.6
MESH via Orphanet 43 D052456
UMLS via Orphanet 70 C0342898 C1704429

Summaries for Hypoalphalipoproteinemia

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, also known as hdl deficiency, type 2, is related to hypertriglyceridemia and tangier disease, and has symptoms including blurred vision, splenomegaly and corneal opacity. An important gene associated with Hypoalphalipoproteinemia is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and eye, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

NIH Rare Diseases : 50 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. last updated: 1/19/2016

OMIM : 54 Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density... (604091) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant... more...

Related Diseases for Hypoalphalipoproteinemia

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

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 28.6 ABCA1 APOA1 APOA2 APOB APOC3 APOE
2 tangier disease 11.8
3 hypolipoproteinemia 10.8
4 arena syndrome 10.3 APOA1 LCAT
5 alport syndrome and thin basement membrane nephropathy 10.3 APOE LPL
6 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.2 LIPC LPL
7 tyrosinemia, type ii 10.2 APOA1 APOA2 LCAT
8 lipoprotein glomerulopathy 10.2 APOE LCAT
9 anaplastic ganglioglioma 10.2 APOA1 LCAT LPA
10 familial progressive cardiac conduction defect 10.2 APOA1 APOA2 APOE LCAT
11 hyperchlorhidrosis, isolated 10.1 APOA1 APOE LIPC LPL
12 atopic dermatitis 4 10.1 APOC3 LPA
13 iron metabolism disease 10.1 APOE PLTP
14 van maldergem syndrome 2 10.1 APOA1 APOA2 LPA
15 zap-70 deficiency 10.1 APOB APOE
16 fetal warfarin syndrome 10.1 APOA1 APOB LCAT
17 abducens nerve neoplasm 10.1 LIPC LPL
18 primary pigmented nodular adrenocortical disease 10.0 APOA1 APOB APOE
19 malignant visceral pleura tumor 10.0 GGT1 LCAT
20 spinocerebellar ataxia 20 10.0 APOA1 APOB LPA
21 joint disorders 10.0 APOA1 APOB APOE LPL
22 dyserythropoietic anemia, congenital, type ii 10.0 APOA1 APOC3 APOE LCAT LPA
23 gait apraxia 10.0 APOA1 APOB APOE CETP
24 pontocerebellar hypoplasia, type 10 10.0 ABCA1 APOE LDLR
25 cetp-related hyperalphalipoproteinemia 9.9 APOB APOE PPARA
26 congenital chloride diarrhea 9.9 APOA1 APOB LPA
27 optic nerve neoplasm 9.9 APOA1 APOB APOE LPA
28 coronary artery disease 9.9
29 artery disease 9.9
30 cataract 20, multiple types 9.9 APOB LPL PPARA
31 posterior uveal melanoma 9.9 APOA1 APOB GBA
32 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 ABCA1 APOB APOE CETP LIPC
33 albinism, oculocutaneous, type v 9.9 APOA1 APOA2 APOB APOE LPA
34 keratoconus 4 9.8 APOB APOE LDLR
35 heart disease 9.8
36 eye disease 9.8
37 fish-eye disease 9.8
38 atherosclerosis 9.8
39 hepatitis 9.8
40 mannosidosis, beta 9.8 APOA1 APOB APOE CETP LCAT LPL
41 asphyxia neonatorum 9.8 ABCA1 APOE LDLR LPA LPL
42 fibrosarcoma of bone 9.8 APOB LDLR LPA
43 pertussis 9.8
44 amenorrhea 9.8
45 breast cancer 9.8
46 sporadic breast cancer 9.8
47 dentinogenesis imperfecta type 2 9.8 APOB APOE LCAT LDLR
48 hypercholesterolemia, due to ligand-defective apo b 9.8 APOB APOE LCAT LDLR
49 cervix small cell carcinoma 9.8 APOA1 APOB APOE LDLR
50 myelophthisic anemia 9.7 APOA1 APOB APOE LPA PPARA

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia:



Diseases related to Hypoalphalipoproteinemia

Symptoms & Phenotypes for Hypoalphalipoproteinemia

Clinical features from OMIM:

604091

Human phenotypes related to Hypoalphalipoproteinemia:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blurred vision 56 32 Frequent (79-30%) HP:0000622
2 splenomegaly 56 32 Frequent (79-30%) HP:0001744
3 corneal opacity 56 32 Frequent (79-30%) HP:0007957
4 emg abnormality 56 32 Frequent (79-30%) HP:0003457
5 anemia 56 32 Frequent (79-30%) HP:0001903
6 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
7 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
8 abnormality of the liver 56 32 Frequent (79-30%) HP:0001392
9 xanthomatosis 56 32 Frequent (79-30%) HP:0000991
10 hypoalphalipoproteinemia 56 32 Frequent (79-30%) HP:0003233
11 angina pectoris 32 HP:0001681
12 sudden cardiac death 32 HP:0001645
13 myocardial infarction 32 HP:0001658
14 transient ischemic attack 32 HP:0002326
15 abnormality of lipid metabolism 32 HP:0003119
16 xanthelasma 32 HP:0001114

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.7 LDLR LIPC LPA LPL PLTP ABCA1
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hypoalphalipoproteinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 GGT1 LCAT LDLR LIPC LPL PLTP
2 cardiovascular system MP:0005385 10.1 ABCA1 APOA1 APOB APOE GBA LCAT
3 endocrine/exocrine gland MP:0005379 10.02 APOA1 APOE GBA GGT1 LCAT LDLR
4 integument MP:0010771 9.86 APOA1 APOE GBA GGT1 LDLR LPL
5 liver/biliary system MP:0005370 9.81 ABCA1 APOA1 APOB APOE GBA LCAT
6 muscle MP:0005369 9.5 ABCA1 APOB APOE LDLR LPL PPARA
7 pigmentation MP:0001186 9.02 ABCA1 APOB APOE GGT1 LDLR

Drugs & Therapeutics for Hypoalphalipoproteinemia

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
2
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4 Nicotinic Acids Phase 4
5 Trace Elements Phase 4
6 Vasodilator Agents Phase 4
7 Vitamin B Complex Phase 4
8 Vitamins Phase 4
9 Hypolipidemic Agents Phase 4
10 Lipid Regulating Agents Phase 4
11 Antimetabolites Phase 4
12 Micronutrients Phase 4
13 Folate Nutraceutical Phase 4
14 Vitamin B3 Nutraceutical Phase 4
15 Vitamin B9 Nutraceutical Phase 4
16
Fenofibrate Approved 49562-28-9 3339
17
Adenosine Approved, Investigational 58-61-7 60961
18 Clofibric Acid 882-09-7
19 Atorvastatin Calcium 134523-03-8
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors
21 Anticholesteremic Agents
22 Calcium, Dietary
23 Pharmaceutical Solutions
24
Lycopene Nutraceutical 502-65-8 446925
25 Tomato Nutraceutical

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Short-term Effect of Extended-release Niacin on Endothelial Function. Completed NCT01942291 Phase 4
2 Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese Children Completed NCT01886495 Phase 3
3 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children Completed NCT01886482 Phase 3
4 High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese Women Completed NCT01763528 Phase 3
5 CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases Recruiting NCT02697136 Phase 3
6 Tomato Consumption and High Density Lipoprotein-cholesterol Completed NCT01342666
7 High-Density Lipoprotein (HDL) Treatment Study Completed NCT00458055
8 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
9 Peripheral Arterial Insufficiency Associated With HIV/AIDS Completed NCT02264509
10 Evaluation of Lipoproteins Recruiting NCT00001168
11 Causes and Natural History of Dyslipidemias Recruiting NCT00353782
12 Mendelian Reverse Cholesterol Transport Study Active, not recruiting NCT01782027

Search NIH Clinical Center for Hypoalphalipoproteinemia

Genetic Tests for Hypoalphalipoproteinemia

Genetic tests related to Hypoalphalipoproteinemia:

id Genetic test Affiliating Genes
1 Familial Hypoalphalipoproteinemia 29
2 Hypoalphalipoproteinemia 29

Anatomical Context for Hypoalphalipoproteinemia

MalaCards organs/tissues related to Hypoalphalipoproteinemia:

39
Liver, Heart, Eye, Monocytes, Endothelial, Kidney

Publications for Hypoalphalipoproteinemia

Articles related to Hypoalphalipoproteinemia:

(show top 50) (show all 77)
id Title Authors Year
1
Association of ATP-Binding Cassette Transporter A1 (ABCA1)-565 C/T Gene Polymorphism with Hypoalphalipoproteinemia and Serum Lipids, IL-6 and CRP Levels. ( 28090279 )
2017
2
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
3
Impact of hypoalphalipoproteinemia on quality of life in Taiwanese women with central obesity. ( 24322908 )
2013
4
Prevalence of classical CD14++/CD16- but not of intermediate CD14++/CD16+ monocytes in hypoalphalipoproteinemia. ( 23623664 )
2013
5
Inhibition of apolipoprotein A-I gene by the aryl hydrocarbon receptor: a potential mechanism for smoking-associated hypoalphalipoproteinemia. ( 22727790 )
2012
6
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. ( 21575609 )
2011
7
Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease. ( 19133158 )
2009
8
Reduced fecal sterol excretion in subjects with familial hypoalphalipoproteinemia. ( 19616211 )
2009
9
Hypoalphalipoproteinemia in populations of Native American ancestry: an opportunity to assess the interaction of genes and the environment. ( 19280764 )
2009
10
Acquired severe hypercholesterolemia and hypoalphalipoproteinemia. ( 21291840 )
2009
11
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. ( 17620955 )
2007
12
Sustained phenotypic correction in a mouse model of hypoalphalipoproteinemia with a helper-dependent adenovirus vector. ( 16957769 )
2007
13
Familial hypercholesterolemia associated with severe hypoalphalipoproteinemia in a Moroccan family. ( 17968143 )
2007
14
Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. ( 16388083 )
2006
15
Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia. ( 16225879 )
2006
16
Consequences of cholesteryl ester transfer protein inhibition in patients with familial hypoalphalipoproteinemia. ( 16127020 )
2005
17
C-reactive protein levels and prevalence of chronic infections in subjects with hypoalphalipoproteinemia. ( 15562377 )
2005
18
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. ( 15841208 )
2005
19
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes. ( 16115486 )
2005
20
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. ( 15292235 )
2004
21
Early vascular damage in primary hypoalphalipoproteinemia. ( 12647271 )
2003
22
Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. ( 12813037 )
2003
23
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. ( 12700344 )
2003
24
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. ( 12111371 )
2002
25
Increased carotid artery intima-media thickness in subjects with primary hypoalphalipoproteinemia. ( 11834535 )
2002
26
Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. ( 12048121 )
2002
27
Increased plasma C-reactive protein in familial hypoalphalipoproteinemia: a proinflammatory condition? ( 11772869 )
2002
28
ApoA-I(MALLORCA) impairs LCAT activation and induces dominant familial hypoalphalipoproteinemia. ( 11792730 )
2002
29
Corticosteroid therapy increases HDL-cholesterol concentrations in patients with active sarcoidosis and hypoalphalipoproteinemia. ( 11983201 )
2002
30
Proteolytic degradation and impaired secretion of an apolipoprotein A-I mutant associated with dominantly inherited hypoalphalipoproteinemia. ( 11292828 )
2001
31
Lecithin:cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity. ( 11522275 )
2001
32
Improvement in endothelial dysfunction in patients with hypoalphalipoproteinemia and coronary artery disease treated with bezafibrate. ( 11483875 )
2001
33
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. ( 10998475 )
2000
34
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23. ( 10775531 )
2000
35
Gemfibrozil, nicotinic acid and combination therapy in patients with isolated hypoalphalipoproteinemia: a randomized, open-label, crossover study. ( 10716466 )
2000
36
Multiple dysfunctions of two apolipoprotein A-I variants, apoA-I(R160L)Oslo and apoA-I(P165R), that are associated with hypoalphalipoproteinemia in heterozygous carriers. ( 10064737 )
1999
37
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. ( 9931341 )
1999
38
Hyperinsulinemic hypoalphalipoproteinemia as a new indicator for coronary heart disease. ( 10551691 )
1999
39
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. ( 9555865 )
1998
40
Severe atherosclerosis and hypoalphalipoproteinemia in the staggerer mouse, a mutant of the nuclear receptor RORalpha. ( 9851961 )
1998
41
Genetic polymorphisms and mutations of the lipoprotein lipase gene in Japanese schoolchildren with hypoalphalipoproteinemia. ( 9730139 )
1998
42
Correction of hypoalphalipoproteinemia in LDL receptor-deficient rabbits by lecithin:cholesterol acyltransferase. ( 9717715 )
1998
43
Hypoalphalipoproteinemia (low high density lipoprotein) as a risk factor for coronary heart disease. ( 8883496 )
1996
44
[Increase of gamma-glutamyltranspeptidase in patients with compensated hypoalphalipoproteinemia and type IIa dyslipidemias]. ( 7627821 )
1995
45
Microsomal enzyme inducers raise plasma high-density lipoprotein cholesterol levels in healthy control subjects but not in patients with primary hypoalphalipoproteinemia. ( 7712672 )
1995
46
Evaluation of effects of unmodified niacin on fasting and postprandial plasma lipids in normolipidemic men with hypoalphalipoproteinemia. ( 7942933 )
1994
47
Lipoprotein responses to treatment with lovastatin, gemfibrozil, and nicotinic acid in normolipidemic patients with hypoalphalipoproteinemia. ( 8267492 )
1994
48
Concentrations of apolipoprotein A-I-containing particles in patients with hypoalphalipoproteinemia. ( 8148349 )
1994
49
Two patterns of LDL metabolism in normotriglyceridemic patients with hypoalphalipoproteinemia. ( 8466893 )
1993
50
Familial hypoalphalipoproteinemia in premature coronary artery disease. ( 8241092 )
1993

Variations for Hypoalphalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Hypoalphalipoproteinemia:

66
id 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:

6
id 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.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh37 Chromosome 9, 107581111: 107581111
3 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh37 Chromosome 9, 107550750: 107550750
4 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh37 Chromosome 9, 107576450: 107576453
5 APOA1 NM_000039.2(APOA1): c.566C> G (p.Pro189Arg) single nucleotide variant Pathogenic rs121912722 GRCh37 Chromosome 11, 116706762: 116706762
6 APOA1 APOA1, DEL deletion Pathogenic
7 APOA1 NM_000039.2(APOA1): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912723 GRCh37 Chromosome 11, 116707006: 116707006
8 APOA1 APOA1, 1-BP INS insertion Pathogenic
9 APOA1 NM_000039.2(APOA1): c.539T> A (p.Val180Glu) single nucleotide variant Pathogenic rs121912727 GRCh37 Chromosome 11, 116706789: 116706789
10 APOA1 APOA1, IVS2, G-C, +1 single nucleotide variant Pathogenic

Expression for Hypoalphalipoproteinemia

Search GEO for disease gene expression data for Hypoalphalipoproteinemia.

Pathways for Hypoalphalipoproteinemia

Pathways related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ABCA1 APOA1 APOA2 APOB APOC3 APOE
2
Show member pathways
12.77 ABCA1 APOA1 APOA2 LPL PPARA RORA
3
Show member pathways
12.59 APOA1 APOA2 APOB APOC3 APOE LDLR
4
Show member pathways
12.3 ABCA1 APOA1 APOA2 APOB APOC3 APOE
5
Show member pathways
12.24 APOA1 APOA2 APOB APOC3 APOE LDLR
6
Show member pathways
12.21 ABCA1 APOA1 APOB APOE GGT1 LDLR
7
Show member pathways
11.73 APOA1 APOB APOE
8 11.66 APOA1 APOA2 APOC3 LPL PLTP PPARA
9
Show member pathways
11.42 LIPC LPL SLC25A20
10
Show member pathways
11.33 ABCA1 APOA1 APOB
11
Show member pathways
11.23 ABCA1 APOA1 APOA2 APOB APOC3 APOE
12 11.07 APOA1 APOA2 APOC3 PLTP PPARA
13 10.95 ABCA1 APOA1 APOA2
14 10.93 ABCA1 LDLR PPARA

GO Terms for Hypoalphalipoproteinemia

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.89 APOA1 APOA2 APOB APOE LIPC
2 early endosome GO:0005769 9.88 APOA1 APOA2 APOB APOC3 APOE LDLR
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
4 low-density lipoprotein particle GO:0034362 9.67 APOA1 APOB APOE LDLR
5 endocytic vesicle lumen GO:0071682 9.63 APOA1 APOB APOE
6 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOA2 APOB APOC3 APOE LPL
7 intermediate-density lipoprotein particle GO:0034363 9.62 APOA1 APOB APOC3 APOE
8 spherical high-density lipoprotein particle GO:0034366 9.61 APOA1 APOA2 APOC3
9 chylomicron GO:0042627 9.43 APOA1 APOA2 APOB APOC3 APOE LPL
10 high-density lipoprotein particle GO:0034364 9.17 ABCA1 APOA1 APOA2 APOE CETP LCAT
11 extracellular exosome GO:0070062 10.22 APOA1 APOA2 APOB APOC3 APOE CETP
12 extracellular region GO:0005576 10.22 APOA1 APOA2 APOB APOC3 APOE CETP
13 extracellular space GO:0005615 10.07 APOA1 APOA2 APOB APOC3 APOE CETP

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

(show top 50) (show all 62)
id Name GO ID Score Top Affiliating Genes
1 low-density lipoprotein particle remodeling GO:0034374 9.99 APOA2 APOB APOE CETP LIPC LPA
2 lipid catabolic process GO:0016042 9.98 APOB APOC3 LIPC LPL
3 regulation of lipid metabolic process GO:0019216 9.97 ABCA1 APOA1 APOA2 PPARA
4 phospholipid efflux GO:0033700 9.97 ABCA1 APOA1 APOA2 APOC3 APOE
5 chylomicron assembly GO:0034378 9.97 APOA1 APOA2 APOB APOC3 APOE
6 chylomicron remnant clearance GO:0034382 9.96 APOB APOC3 APOE LDLR LIPC
7 lipoprotein biosynthetic process GO:0042158 9.95 ABCA1 APOA1 APOA2 APOB APOE LCAT
8 phospholipid transport GO:0015914 9.93 ABCA1 APOA1 CETP LDLR
9 very-low-density lipoprotein particle remodeling GO:0034372 9.92 APOE CETP LCAT LIPC LPL
10 high-density lipoprotein particle assembly GO:0034380 9.91 ABCA1 APOA1 APOA2 APOE
11 chylomicron remodeling GO:0034371 9.91 APOA1 APOA2 APOB APOC3 APOE LPL
12 cholesterol metabolic process GO:0008203 9.91 ABCA1 APOA1 APOA2 APOB APOE CETP
13 cellular response to tumor necrosis factor GO:0071356 9.9 APOB GBA RORA
14 response to estrogen GO:0043627 9.89 APOA1 APOA2 GBA
15 phospholipid metabolic process GO:0006644 9.89 APOA1 LCAT LPL
16 regulation of Cdc42 protein signal transduction GO:0032489 9.89 ABCA1 APOA1 APOC3 APOE
17 negative regulation of neuron death GO:1901215 9.87 APOE GBA PPARA
18 phosphatidylcholine biosynthetic process GO:0006656 9.85 APOA1 APOA2 LCAT
19 positive regulation of cholesterol efflux GO:0010875 9.83 ABCA1 APOE PLTP
20 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.83 ABCA1 CETP PPARA
21 phospholipid homeostasis GO:0055091 9.83 ABCA1 APOA1 CETP
22 positive regulation of cholesterol esterification GO:0010873 9.82 APOA1 APOA2 APOE
23 high-density lipoprotein particle clearance GO:0034384 9.82 APOA1 APOA2 APOE
24 lipoprotein catabolic process GO:0042159 9.8 APOB APOE LDLR
25 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
26 reverse cholesterol transport GO:0043691 9.76 ABCA1 APOA1 APOA2 APOC3 APOE CETP
27 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
28 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
29 phosphatidylcholine metabolic process GO:0046470 9.72 CETP LCAT
30 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
31 regulation of lipoprotein lipase activity GO:0051004 9.72 LIPC LPL
32 regulation of cholesterol homeostasis GO:2000188 9.72 LDLR RORA
33 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
34 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
35 negative regulation of cholesterol storage GO:0010887 9.71 ABCA1 PPARA
36 negative regulation of cellular protein metabolic process GO:0032269 9.7 APOE GBA
37 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
38 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
39 cholesterol import GO:0070508 9.7 APOA1 LDLR
40 very-low-density lipoprotein particle clearance GO:0034447 9.69 APOB APOE
41 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
42 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
43 protein oxidation GO:0018158 9.68 APOA1 APOA2
44 regulation of high-density lipoprotein particle assembly GO:0090107 9.67 ABCA1 LCAT
45 negative regulation of cholesterol import GO:0060621 9.67 APOA2 APOC3
46 cholesterol transport GO:0030301 9.56 ABCA1 APOA1 APOA2 APOB CETP LCAT
47 high-density lipoprotein particle remodeling GO:0034375 9.23 APOA1 APOA2 APOC3 APOE CETP LCAT
48 transport GO:0006810 10.38 ABCA1 APOA1 APOA2 APOB APOC3 APOE
49 lipid metabolic process GO:0006629 10.25 ABCA1 APOA1 APOB APOC3 APOE CETP
50 lipid transport GO:0006869 10.15 APOA1 APOA2 APOB APOC3 APOE CETP

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.88 APOB APOE LIPC LPA LPL
2 lipid binding GO:0008289 9.86 APOA1 APOA2 APOB APOC3 APOE CETP
3 phospholipid binding GO:0005543 9.8 ABCA1 APOA1 APOA2 APOB APOC3 APOE
4 phosphatidylcholine binding GO:0031210 9.69 APOA1 APOA2 CETP
5 phospholipid transporter activity GO:0005548 9.67 ABCA1 APOA1 CETP
6 apolipoprotein binding GO:0034185 9.67 ABCA1 LIPC LPA LPL
7 lipase inhibitor activity GO:0055102 9.63 APOA1 APOA2 APOC3
8 triglyceride lipase activity GO:0004806 9.61 LIPC LPL
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA2 APOE
10 low-density lipoprotein particle receptor binding GO:0050750 9.6 APOB APOE
11 transcription coactivator binding GO:0001223 9.59 PPARA RORA
12 low-density lipoprotein particle binding GO:0030169 9.58 LDLR LIPC
13 phospholipase activity GO:0004620 9.58 LIPC LPL
14 high-density lipoprotein particle receptor binding GO:0070653 9.58 APOA1 APOA2 APOC3
15 high-density lipoprotein particle binding GO:0008035 9.57 APOA1 APOA2
16 lipoprotein particle binding GO:0071813 9.56 APOA1 APOE
17 apolipoprotein A-I binding GO:0034186 9.55 ABCA1 LCAT
18 lipid transporter activity GO:0005319 9.55 APOA1 APOA2 APOB APOE CETP
19 apolipoprotein receptor binding GO:0034190 9.54 APOA1 APOA2
20 triglyceride binding GO:0017129 9.52 CETP LPL
21 cholesterol binding GO:0015485 9.43 ABCA1 APOA1 APOA2 APOC3 APOE CETP
22 cholesterol transporter activity GO:0017127 9.1 ABCA1 APOA1 APOA2 APOB APOE CETP

Sources for Hypoalphalipoproteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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