HALP1
MCID: HYP090
MIFTS: 48

Hyperalphalipoproteinemia (HALP1) malady

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

Aliases & Classifications for Hyperalphalipoproteinemia

Aliases & Descriptions for Hyperalphalipoproteinemia:

Name: Hyperalphalipoproteinemia 54 29 13 52
Cholesteryl Ester Transfer Protein Deficiency 66 69
Familial Hyperalphalipoproteinemia 56 69
Hyperalphalipoproteinemia 1 66 69
Cetp Deficiency 66 52
Cholesterol-Ester Transfer Protein Deficiency 56
Cept Deficiency 56
Halp1 66

Characteristics:

Orphanet epidemiological data:

56
cholesterol-ester transfer protein deficiency
Inheritance: Autosomal dominant,Autosomal recessive;

HPO:

32
hyperalphalipoproteinemia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 143470
Orphanet 56 ORPHA79506
ICD10 via Orphanet 34 E78.4
MeSH 42 D006951

Summaries for Hyperalphalipoproteinemia

UniProtKB/Swiss-Prot : 66 Hyperalphalipoproteinemia 1: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.

MalaCards based summary : Hyperalphalipoproteinemia, also known as cholesteryl ester transfer protein deficiency, is related to lipomatosis and hypertriglyceridemia, and has symptoms including hyperlipidemia, hypercholesterolemia and hypotriglyceridemia. An important gene associated with Hyperalphalipoproteinemia is CETP (Cholesteryl Ester Transfer Protein), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Adenosine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Related phenotypes are Decreased free cholesterol and Increased LDL uptake

Description from OMIM: 143470

Related Diseases for Hyperalphalipoproteinemia

Diseases in the Hyperalphalipoproteinemia family:

Cetp-Related Hyperalphalipoproteinemia

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

(show top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 lipomatosis 28.5 APOA1 APOB APOC3 APOE CETP LCAT
2 hypertriglyceridemia 27.9 ABCA1 APOA1 APOA2 APOB APOC3 APOE
3 cetp-related hyperalphalipoproteinemia 11.8
4 apolipoprotein c-iii deficiency 11.6
5 arena syndrome 10.2 APOA1 LCAT
6 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.2 LIPC LPL
7 abducens nerve neoplasm 10.2 LIPC LPL
8 tyrosinemia, type ii 10.2 APOA1 APOA2 LCAT
9 alport syndrome and thin basement membrane nephropathy 10.1 APOE LPL
10 fetal warfarin syndrome 10.1 APOA1 APOB LCAT
11 hepatitis 10.1
12 lipoprotein glomerulopathy 10.1 APOE LCAT
13 zap-70 deficiency 10.1 APOB APOE
14 iron metabolism disease 10.1 APOE PLTP
15 c1s deficiency 10.0 APOE LPL
16 primary pigmented nodular adrenocortical disease 10.0 APOA1 APOB APOE
17 optic nerve neoplasm 10.0 APOA1 APOB APOE
18 familial progressive cardiac conduction defect 10.0 APOA1 APOA2 APOE LCAT
19 hyperchlorhidrosis, isolated 10.0 APOA1 APOE LIPC LPL
20 pars planitis 9.9 APOA1 APOE
21 albinism, oculocutaneous, type v 9.9 APOA1 APOA2 APOB APOE
22 joint disorders 9.9 APOA1 APOB APOE LPL
23 hard palate cancer 9.9 APOA1 APOA2 APOE
24 heart disease 9.9
25 dyserythropoietic anemia, congenital, type ii 9.9 APOA1 APOC3 APOE LCAT SCARB1
26 keratoconus 4 9.8 APOB APOE LDLR
27 myelophthisic anemia 9.8 APOA1 APOB APOE PON1
28 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 ABCA1 APOB APOE CETP LIPC
29 pontocerebellar hypoplasia, type 10 9.8 ABCA1 APOE LDLR
30 mannosidosis, beta 9.7 APOA1 APOB APOE CETP LCAT LPL
31 gait apraxia 9.7 APOA1 APOB APOE CETP PON1
32 atherosclerosis 9.7
33 artery disease 9.7
34 multiple symmetrical lipomatosis 9.7
35 coronary artery disease 9.7
36 hypoalphalipoproteinemia 9.7
37 dentinogenesis imperfecta type 2 9.7 APOB APOE LCAT LDLR
38 hypercholesterolemia, due to ligand-defective apo b 9.7 APOB APOE LCAT LDLR
39 bleeding disorder, east texas type 9.6 APOA1 APOA2 APOB APOC3 APOE LIPC
40 alzheimer disease 19, late onset 9.6 APOA2 APOB APOE LCAT LDLR
41 bird fancier's lung 9.6 ABCA1 APOA1 APOA2 APOB APOE LCAT
42 neuropathy, hereditary sensory and autonomic, type ia 9.5 ABCA1 APOA1 APOA2 APOB APOE CETP
43 cervix small cell carcinoma 9.5 APOA1 APOB APOE LDLR PON1
44 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 9.5 ABCA1 APOB APOE LDLR LIPC LPL
45 asphyxia neonatorum 9.5 ABCA1 APOE LDLR LPL PON1
46 skin squamous cell carcinoma 9.5 APOA1 APOB APOE CETP LDLR LIPC
47 stone in bladder diverticulum 9.4 APOA1 APOA2 APOB APOE CETP LCAT
48 acute apical periodontitis 9.3 APOA1 APOB APOC3 APOE CETP LCAT
49 immunodeficiency 18 9.2 APOA1 APOA2 APOB APOC3 APOE CETP
50 von willebrand disease, platelet-type 9.2 APOA1 APOA2 APOB APOC3 APOE CETP

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia:



Diseases related to Hyperalphalipoproteinemia

Symptoms & Phenotypes for Hyperalphalipoproteinemia

Symptoms by clinical synopsis from OMIM:

143470

Clinical features from OMIM:

143470

Human phenotypes related to Hyperalphalipoproteinemia:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia 56 32 Obligate (100%) HP:0003077
2 hypercholesterolemia 56 32 Obligate (100%) HP:0003124
3 hyperalphalipoproteinemia 56 32 Obligate (100%) HP:0012184
4 hypotriglyceridemia 56 32 Frequent (79-30%) HP:0012153
5 precocious atherosclerosis 56 Excluded (0%)
6 hyperlipoproteinemia 56 Obligate (100%)
7 tendon xanthomatosis 56 Excluded (0%)

GenomeRNAi Phenotypes related to Hyperalphalipoproteinemia 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 APOC3 APOE CETP LDLR LIPC LIPG
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hyperalphalipoproteinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ABCA1 APOA1 APOB APOE LCAT LDLR
2 homeostasis/metabolism MP:0005376 9.77 APOB APOE LCAT LDLR LIPC LIPG
3 liver/biliary system MP:0005370 9.23 ABCA1 APOA1 APOB APOE LCAT LDLR

Drugs & Therapeutics for Hyperalphalipoproteinemia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Relationship Between CETP Deficiency and Atherosclerosis in Patients With Hyperalphalipoproteinemia Unknown status NCT01916512
2 Genes Involved in Lipid Disorders Recruiting NCT02311335
3 Causes and Natural History of Dyslipidemias Recruiting NCT00353782
4 Mendelian Reverse Cholesterol Transport Study Active, not recruiting NCT01782027

Search NIH Clinical Center for Hyperalphalipoproteinemia

Genetic Tests for Hyperalphalipoproteinemia

Genetic tests related to Hyperalphalipoproteinemia:

id Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia 29

Anatomical Context for Hyperalphalipoproteinemia

Publications for Hyperalphalipoproteinemia

Articles related to Hyperalphalipoproteinemia:

(show top 50) (show all 63)
id Title Authors Year
1
Improved plasma cholesterol efflux capacity from human macrophages in patients with hyperalphalipoproteinemia. ( 24674903 )
2014
2
Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia. ( 24680225 )
2014
3
Disease-associated marked hyperalphalipoproteinemia. ( 27896098 )
2014
4
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. ( 23219720 )
2013
5
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. ( 22464213 )
2012
6
Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. ( 19428034 )
2009
7
Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia. ( 19158204 )
2009
8
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. ( 18926541 )
2009
9
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. ( 19013296 )
2008
10
Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. ( 18160998 )
2008
11
Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. ( 17192423 )
2007
12
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia. ( 16650090 )
2006
13
Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor. ( 16384559 )
2006
14
The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. ( 16855848 )
2006
15
Antioxidative activity of HDL particle subspecies is impaired in hyperalphalipoproteinemia: relevance of enzymatic and physicochemical properties. ( 14739123 )
2004
16
Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia. ( 12482565 )
2003
17
Plasma C-reactive protein in subjects with hypo/hyperalphalipoproteinemias. ( 12701054 )
2003
18
Distribution of human plasma PLTP mass and activity in hypo- and hyperalphalipoproteinemia. ( 12177167 )
2002
19
A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia. ( 11887180 )
2002
20
ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice. ( 11457883 )
2001
21
Elevated hepatic apolipoprotein A-I transcription is associated with diet-induced hyperalphalipoproteinemia in rabbits. ( 10809165 )
2000
22
The Arg123-Tyr166 central domain of human ApoAI is critical for lecithin:cholesterol acyltransferase-induced hyperalphalipoproteinemia and HDL remodeling in transgenic mice. ( 10669644 )
2000
23
Molecular mechanisms, lipoprotein abnormalities and atherogenicity of hyperalphalipoproteinemia. ( 10998455 )
2000
24
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. ( 10606208 )
1999
25
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
26
Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein2 levels and decreased hepatic lipase activity. ( 9711993 )
1998
27
Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia. ( 9751249 )
1998
28
Hyperalphalipoproteinemia and prostaglandin I2 stability. ( 9336872 )
1997
29
Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan. Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity. ( 9194754 )
1997
30
[Serum apolipoprotein E-rich HDL-C levels in the subjects with hyperalphalipoproteinemia]. ( 9311266 )
1997
31
[Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]. ( 8847813 )
1996
32
Hyperalphalipoproteinemia in human lecithin cholesterol acyltransferase transgenic rabbits. In vivo apolipoprotein A-I catabolism is delayed in a gene dose-dependent manner. ( 8621767 )
1996
33
Overexpression of human lecithin cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice. ( 7744879 )
1995
34
Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. ( 7583564 )
1995
35
A case of hyperalphalipoproteinemia associated with albumin complexing. ( 7840809 )
1994
36
Unsaturated fatty acids incorporated in HDL in hypo- and hyperalphalipoproteinemia--relation to the HDL-cholesterol level. ( 7778503 )
1994
37
Increased plasma apolipoprotein E-rich high-density lipoprotein and its effect on serum high-density lipoprotein cholesterol determination in patients with familial hyperalphalipoproteinemia due to cholesteryl ester transfer activity deficiency. ( 8439452 )
1993
38
Increased production of apolipoprotein A-I associated with elevated plasma levels of high-density lipoproteins, apolipoprotein A-I, and lipoprotein A-I in a patient with familial hyperalphalipoproteinemia. ( 8231838 )
1993
39
Rapid detection and prevalence of cholesteryl ester transfer protein deficiency caused by an intron 14 splicing defect in hyperalphalipoproteinemia. ( 8454281 )
1993
40
Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population--relation between the mutation and hyperalphalipoproteinemia. ( 8318066 )
1993
41
Compound heterozygote of cholesteryl-ester transfer protein deficiency in a patient with hyperalphalipoproteinemia. ( 1418105 )
1992
42
Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia. ( 1505654 )
1992
43
Apolipoprotein C-III(Lys-58-->Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. ( 2022742 )
1991
44
A family of homozygous familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. ( 2360880 )
1990
45
Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia. ( 1980685 )
1990
46
Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia. ( 2504859 )
1989
47
High density lipoprotein metabolism in a rabbit model of hyperalphalipoproteinemia. ( 2920068 )
1989
48
Decreased serum cholesteryl-ester transfer activity in a patient with familial hyperalphalipoproteinemia. ( 3193660 )
1988
49
A familial hyperalphalipoproteinemia with low uptake of high density lipoproteins into peripheral lymphocytes. ( 3190815 )
1988
50
Small polydisperse low density lipoproteins in familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. ( 3355618 )
1988

Variations for Hyperalphalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia:

66
id Symbol AA change Variation ID SNP ID
1 CETP p.Asp459Gly VAR_004172 rs2303790
2 CETP p.Leu168Pro VAR_033099
3 CETP p.Arg299Cys VAR_033100 rs142459781

ClinVar genetic disease variations for Hyperalphalipoproteinemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CETP CETP, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
2 CETP CETP, 1-BP INS, T, IVS14, +3 insertion Pathogenic

Expression for Hyperalphalipoproteinemia

Search GEO for disease gene expression data for Hyperalphalipoproteinemia.

Pathways for Hyperalphalipoproteinemia

Pathways related to Hyperalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ABCA1 APOA1 APOA2 APOB APOC3 APOE
2
Show member pathways
12.59 APOA1 APOA2 APOB APOC3 APOE LDLR
3
Show member pathways
12.34 ABCA1 APOA1 APOA2 APOB APOC3 APOE
4
Show member pathways
12.21 ABCA1 APOA1 APOB APOE LDLR SCARB1
5
Show member pathways
12.13 APOA1 APOA2 APOB APOC3 APOE LDLR
6
Show member pathways
11.84 LIPC LIPG LPL
7
Show member pathways
11.83 APOA1 APOB APOE SCARB1
8 11.58 APOA1 APOA2 APOC3 LPL PLTP
9 11.56 LDLR LPL SCARB1
10
Show member pathways
11.4 ABCA1 APOA1 APOB SCARB1
11
Show member pathways
11.27 ABCA1 APOA1 APOA2 APOB APOC3 APOE
12 11.08 APOA1 APOA2 APOC3 PLTP
13 11.05 APOA1 APOB SCARB1
14 10.95 ABCA1 CETP
15 10.93 ABCA1 APOA1 APOA2
16 10.83 ABCA1 LDLR
17 10.58 LIPC LIPG

GO Terms for Hyperalphalipoproteinemia

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.97 ABCA1 APOA1 LDLR LIPG LPL SCARB1
2 endoplasmic reticulum lumen GO:0005788 9.91 APOA1 APOA2 APOB APOE LIPC
3 blood microparticle GO:0072562 9.85 APOA1 APOA2 APOE PON1
4 very-low-density lipoprotein particle GO:0034361 9.73 APOA1 APOA2 APOB APOC3 APOE LPL
5 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOE LDLR PLA2G7
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.71 APOB APOE LDLR
7 spherical high-density lipoprotein particle GO:0034366 9.71 APOA1 APOA2 APOC3 PON1
8 intermediate-density lipoprotein particle GO:0034363 9.67 APOA1 APOB APOC3 APOE
9 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
10 chylomicron GO:0042627 9.43 APOA1 APOA2 APOB APOC3 APOE LPL
11 high-density lipoprotein particle GO:0034364 9.23 ABCA1 APOA1 APOA2 APOE CETP LCAT
12 extracellular region GO:0005576 10.25 APOA1 APOA2 APOB APOC3 APOE CETP
13 extracellular exosome GO:0070062 10.22 APOA1 APOA2 APOB APOC3 APOE CETP
14 early endosome GO:0005769 10 APOA1 APOA2 APOB APOC3 APOE LDLR
15 extracellular space GO:0005615 10 APOA1 APOA2 APOB APOC3 APOE CETP

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

(show top 50) (show all 69)
id Name GO ID Score Top Affiliating Genes
1 phospholipid efflux GO:0033700 9.97 ABCA1 APOA1 APOA2 APOC3 APOE
2 chylomicron assembly GO:0034378 9.97 APOA1 APOA2 APOB APOC3 APOE
3 lipid transport GO:0006869 9.97 APOA1 APOA2 APOB APOC3 APOE CETP
4 chylomicron remnant clearance GO:0034382 9.96 APOB APOC3 APOE LDLR LIPC
5 positive regulation of cholesterol efflux GO:0010875 9.94 ABCA1 APOE PLTP PON1
6 high-density lipoprotein particle assembly GO:0034380 9.93 ABCA1 APOA1 APOA2 APOE
7 very-low-density lipoprotein particle remodeling GO:0034372 9.93 APOE CETP LCAT LIPC LPL
8 phospholipid homeostasis GO:0055091 9.91 ABCA1 APOA1 CETP LIPG
9 high-density lipoprotein particle clearance GO:0034384 9.91 APOA1 APOA2 APOE SCARB1
10 regulation of lipid metabolic process GO:0019216 9.9 ABCA1 APOA1 APOA2
11 regulation of Cdc42 protein signal transduction GO:0032489 9.9 ABCA1 APOA1 APOC3 APOE
12 response to nutrient GO:0007584 9.89 ABCA1 APOA1 LIPG
13 phospholipid metabolic process GO:0006644 9.88 APOA1 LCAT LPL
14 positive regulation of inflammatory response GO:0050729 9.88 LDLR LPL PLA2G7
15 phosphatidylcholine biosynthetic process GO:0006656 9.86 APOA1 APOA2 LCAT
16 low-density lipoprotein particle clearance GO:0034383 9.85 APOB LDLR SCARB1
17 phosphatidylcholine metabolic process GO:0046470 9.84 CETP LCAT PON1
18 positive regulation of cholesterol esterification GO:0010873 9.84 APOA1 APOA2 APOE
19 positive regulation of cholesterol storage GO:0010886 9.83 APOB LPL SCARB1
20 cholesterol import GO:0070508 9.83 APOA1 LDLR SCARB1
21 lipoprotein catabolic process GO:0042159 9.82 APOB APOE LDLR
22 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.82 APOA1 APOA2 APOC3
23 cholesterol efflux GO:0033344 9.8 ABCA1 APOA1 APOA2 APOB APOC3 APOE
24 lipid homeostasis GO:0055088 9.74 APOE CETP
25 artery morphogenesis GO:0048844 9.74 APOB APOE
26 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 APOE SCARB1
27 negative regulation of lipid catabolic process GO:0050995 9.74 APOA2 APOC3
28 endothelial cell proliferation GO:0001935 9.73 APOA1 SCARB1
29 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
30 phospholipid catabolic process GO:0009395 9.73 APOA2 LIPG
31 lipid digestion GO:0044241 9.73 LIPC LIPG
32 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
33 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
34 regulation of lipoprotein lipase activity GO:0051004 9.72 LIPC LPL
35 cholesterol catabolic process GO:0006707 9.72 APOE SCARB1
36 positive regulation of triglyceride biosynthetic process GO:0010867 9.72 LDLR SCARB1
37 blood vessel endothelial cell migration GO:0043534 9.71 APOA1 SCARB1
38 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
39 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
40 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
41 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
42 triglyceride homeostasis GO:0070328 9.7 APOA1 APOC3 APOE CETP LIPC LPL
43 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
44 negative regulation of lipase activity GO:0060192 9.69 APOA1 APOA2
45 protein oxidation GO:0018158 9.69 APOA1 APOA2
46 regulation of high-density lipoprotein particle assembly GO:0090107 9.68 ABCA1 LCAT
47 negative regulation of cholesterol import GO:0060621 9.68 APOA2 APOC3
48 regulation of phosphatidylcholine catabolic process GO:0010899 9.67 LDLR SCARB1
49 lipoprotein biosynthetic process GO:0042158 9.43 ABCA1 APOA1 APOA2 APOB APOE LCAT
50 chylomicron remodeling GO:0034371 9.1 APOA1 APOA2 APOB APOC3 APOE LPL

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.91 APOB APOE LIPC LIPG LPL
2 lipid binding GO:0008289 9.87 APOA1 APOA2 APOB APOC3 APOE CETP
3 carboxylic ester hydrolase activity GO:0052689 9.77 LIPC LIPG LPL
4 phosphatidylcholine binding GO:0031210 9.74 APOA1 APOA2 CETP
5 triglyceride lipase activity GO:0004806 9.73 LIPC LIPG LPL
6 phospholipid transporter activity GO:0005548 9.72 ABCA1 APOA1 CETP
7 low-density lipoprotein particle binding GO:0030169 9.71 LDLR LIPC SCARB1
8 phospholipase activity GO:0004620 9.7 LIPC LIPG LPL
9 high-density lipoprotein particle binding GO:0008035 9.67 APOA1 APOA2 SCARB1
10 apolipoprotein binding GO:0034185 9.67 ABCA1 LIPC LPL SCARB1
11 lipase inhibitor activity GO:0055102 9.65 APOA1 APOA2 APOC3
12 lipid transporter activity GO:0005319 9.65 APOA1 APOA2 APOB APOE CETP
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.63 APOA1 APOA2 APOE
14 cholesterol binding GO:0015485 9.63 ABCA1 APOA1 APOA2 APOC3 APOE CETP
15 low-density lipoprotein particle receptor binding GO:0050750 9.61 APOB APOE
16 lipoprotein particle binding GO:0071813 9.61 APOA1 APOE
17 apolipoprotein A-I binding GO:0034186 9.61 ABCA1 LCAT SCARB1
18 lipoprotein lipase activity GO:0004465 9.6 LIPG LPL
19 apolipoprotein receptor binding GO:0034190 9.58 APOA1 APOA2
20 triglyceride binding GO:0017129 9.58 CETP LPL
21 high-density lipoprotein particle receptor binding GO:0070653 9.58 APOA1 APOA2 APOC3
22 cholesterol transporter activity GO:0017127 9.43 ABCA1 APOA1 APOA2 APOB APOE CETP
23 phospholipid binding GO:0005543 9.23 ABCA1 APOA1 APOA2 APOB APOC3 APOE

Sources for Hyperalphalipoproteinemia

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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