MCID: HYP090
MIFTS: 45

Hyperalphalipoproteinemia malady

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

Aliases & Classifications for Hyperalphalipoproteinemia

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Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hyperalphalipoproteinemia:

Name: Hyperalphalipoproteinemia 50 25 12 48
Cholesteryl Ester Transfer Protein Deficiency 68 66
Cetp Deficiency 68 48
Cholesterol-Ester Transfer Protein Deficiency 52
 
Familial Hyperalphalipoproteinemia 52
Hyperalphalipoproteinemia 1 68
Cept Deficiency 52
Halp1 68

Characteristics:

Orphanet epidemiological data:

52
cholesterol-ester transfer protein deficiency:
Inheritance: Autosomal dominant,Autosomal recessive

HPO:

62
hyperalphalipoproteinemia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 143470
Orphanet52 ORPHA79506
ICD10 via Orphanet29 E78.4
MeSH37 D006951

Summaries for Hyperalphalipoproteinemia

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UniProtKB/Swiss-Prot:68 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 apolipoprotein c-iii deficiency and coronary artery disease, and has symptoms including hyperalphalipoproteinemia An important gene associated with Hyperalphalipoproteinemia is CETP (Cholesteryl Ester Transfer Protein), and among its related pathways are Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) and triacylglycerol degradation. Related mouse phenotypes are liver/biliary system and cardiovascular system.

Description from OMIM:50 143470

Related Diseases for Hyperalphalipoproteinemia

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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 54)
idRelated DiseaseScoreTop Affiliating Genes
1apolipoprotein c-iii deficiency28.7ABCA1, APOA1, APOA2, APOB, APOC3, CETP
2coronary artery disease25.6ABCA1, APOA1, APOA2, APOB, APOC3, CETP
3cetp-related hyperalphalipoproteinemia11.9
4intellectual disability-developmental delay-contractures syndrome10.5APOA1, LCAT
5spondylometaphyseal dysplasia, megarbane-dagher-melike type10.5LIPC, LPL
6amelogenesis imperfecta, type iia310.3APOA1, LIPC, LPL
7amyoplasia mandibulofacial dysostosis10.3APOA1, APOA2
8hepatitis10.3
9tyrosinemia, type ii10.2APOA1, APOA2, LCAT
10pontocerebellar hypoplasia10.1APOA1, APOB, CETP
11legg-calve-perthes disease10.1APOA1, APOB
12fetal methyl mercury syndrome10.1APOA1, APOB, LCAT
13dyserythropoietic anemia, congenital, type ii10.0APOA1, APOC3, LCAT, SCARB1
14heart disease10.0
15shwachman-diamond type metaphyseal dysplasia10.0APOA1, APOB
16hypercholesterolemia, due to ligand-defective apo b10.0APOB, LDLR
17hypoalphalipoproteinemia9.9
18hypertriglyceridemia9.9
19atherosclerosis9.9
20artery disease9.9
21multiple symmetrical lipomatosis9.9
22lipomatosis9.9
23degos 'en cocarde' erythrokeratoderma9.8APOB, LCAT, LDLR
24blue toe syndrome9.8APOB, LCAT, LIPC, LPL
25hypobetalipoproteinemia9.8APOB, LCAT, LDLR
26conjunctival disease9.7APOA1, CETP, LPL, PON1
27islet cell tumor9.6ABCA1, APOA1, APOB, LPL
28macular degeneration, age-related, 19.6ABCA1, APOB, CETP, LIPC
29wolfram syndrome 29.6APOA1, APOB, CETP, LCAT, LPL
30iron metabolism disease9.6APOA1, APOB, PON1
31arthritis9.5ABCA1, LDLR, PON1
32alzheimer disease 19, late onset9.5APOA2, APOB, LCAT, LDLR
33littre gland carcinoma9.5APOA1, APOB, PON1
34polyneuropathy9.3ABCA1, APOA1, APOA2, APOB, LCAT
35bladder diverticulum9.3APOA1, APOA2, APOB, LCAT, LDLR
36pyelonephritis9.2APOB, CETP, PON1
37rubinstein taybi like syndrome9.1APOA1, APOB, CETP, LDLR, LIPC, LPL
38hepatic adenoma, somatic9.1APOA1, APOB, APOC3, LPL, PON1
39inflamed seborrheic keratosis9.0APOA1, APOA2, APOB, APOC3, LDLR, LPL
40keratoacanthoma8.9ABCA1, APOA1, APOB, APOC3, LDLR, LPL
41obesity, hyperphagia, and developmental delay8.9ABCA1, APOA1, APOA2, APOB, CETP, LCAT
42von willebrand disease, platelet-type8.7APOA1, APOA2, APOB, APOC3, LCAT, LDLR
43autoimmune hepatitis8.6ABCA1, APOA1, APOB, LDLR, LIPC, PON1
44immunodeficiency 198.6APOA1, APOA2, APOB, APOC3, CETP, LDLR
45diabetes mellitus, noninsulin-dependent8.5APOA1, APOB, APOC3, CETP, LIPC, LPL
46obesity8.5APOA1, APOB, LCAT, LIPC, LIPG, LPL
47hyperlipidemia, familial combined8.5APOA1, APOA2, APOB, APOC3, LCAT, LDLR
48surf1-related charcot-marie-tooth disease type 48.4ABCA1, APOA1, APOB, CETP, LDLR, LIPC
49adrenal rest tumor8.3APOA1, APOB, CETP, LDLR, PLA2G7, PON1
50peripheral artery disease8.2ABCA1, APOA1, APOA2, APOB, LCAT, LDLR

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia:



Diseases related to hyperalphalipoproteinemia

Symptoms for Hyperalphalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

143470

Clinical features from OMIM:

143470

HPO human phenotypes related to Hyperalphalipoproteinemia:

id Description Frequency HPO Source Accession
1 hyperalphalipoproteinemia HP:0012184

Drugs & Therapeutics for Hyperalphalipoproteinemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Adenosine38858-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5

Interventional clinical trials:

idNameStatusNCT IDPhase
1Relationship Between CETP Deficiency and Atherosclerosis in Patients With HyperalphalipoproteinemiaRecruitingNCT01916512
2Genes Involved in Lipid DisordersRecruitingNCT02311335
3Causes and Natural History of DyslipidemiasRecruitingNCT00353782
4Mendelian Reverse Cholesterol Transport StudyActive, not recruitingNCT01782027

Search NIH Clinical Center for Hyperalphalipoproteinemia

Genetic Tests for Hyperalphalipoproteinemia

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Genetic tests related to Hyperalphalipoproteinemia:

id Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia25

Anatomical Context for Hyperalphalipoproteinemia

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Animal Models for Hyperalphalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperalphalipoproteinemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1ABCA1, APOA1, APOB, LCAT, LDLR, LPL
2MP:00053856.4ABCA1, APOA1, APOB, LCAT, LDLR, LIPG
3MP:00053765.8ABCA1, APOA1, APOA2, APOB, LCAT, LDLR

Publications for Hyperalphalipoproteinemia

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Articles related to Hyperalphalipoproteinemia:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Improved plasma cholesterol efflux capacity from human macrophages in patients with hyperalphalipoproteinemia. (24674903)
2014
2
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. (23219720)
2013
3
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. (22464213)
2012
4
Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia. (19158204)
2009
5
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. (18926541)
2009
6
Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. (19428034)
2009
7
Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. (18160998)
2008
8
Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. (17192423)
2007
9
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
10
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia. (16650090)
2006
11
Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor. (16384559)
2006
12
Antioxidative activity of HDL particle subspecies is impaired in hyperalphalipoproteinemia: relevance of enzymatic and physicochemical properties. (14739123)
2004
13
Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia. (12482565)
2003
14
Plasma C-reactive protein in subjects with hypo/hyperalphalipoproteinemias. (12701054)
2003
15
Distribution of human plasma PLTP mass and activity in hypo- and hyperalphalipoproteinemia. (12177167)
2002
16
The Arg123-Tyr166 central domain of human ApoAI is critical for lecithin:cholesterol acyltransferase-induced hyperalphalipoproteinemia and HDL remodeling in transgenic mice. (10669644)
2000
17
Molecular mechanisms, lipoprotein abnormalities and atherogenicity of hyperalphalipoproteinemia. (10998455)
2000
18
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
19
Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein2 levels and decreased hepatic lipase activity. (9711993)
1998
20
Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia. (9751249)
1998
21
Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels. (9555865)
1998
22
Hyperalphalipoproteinemia and prostaglandin I2 stability. (9336872)
1997
23
Serum apolipoprotein E-rich HDL-C levels in the subjects with hyperalphalipoproteinemia]. (9311266)
1997
24
Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]. (8847813)
1996
25
Overexpression of human lecithin cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice. (7744879)
1995
26
Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. (7583564)
1995
27
A case of hyperalphalipoproteinemia associated with albumin complexing. (7840809)
1994
28
Unsaturated fatty acids incorporated in HDL in hypo- and hyperalphalipoproteinemia--relation to the HDL-cholesterol level. (7778503)
1994
29
Rapid detection and prevalence of cholesteryl ester transfer protein deficiency caused by an intron 14 splicing defect in hyperalphalipoproteinemia. (8454281)
1993
30
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
31
Compound heterozygote of cholesteryl-ester transfer protein deficiency in a patient with hyperalphalipoproteinemia. (1418105)
1992
32
Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia. (1505654)
1992
33
Apolipoprotein C-III(Lys-58-->Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. (2022742)
1991
34
A family of homozygous familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. (2360880)
1990
35
Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia. (1980685)
1990
36
Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia. (2504859)
1989
37
High density lipoprotein metabolism in a rabbit model of hyperalphalipoproteinemia. (2920068)
1989
38
Small polydisperse low density lipoproteins in familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. (3355618)
1988
39
Decreased serum cholesteryl-ester transfer activity in a patient with familial hyperalphalipoproteinemia. (3193660)
1988
40
Type II hyperlipoproteinemia, hyperapobetalipoproteinemia, and hyperalphalipoproteinemia following renal transplantation: prevalence and precipitating factors. (3547921)
1987
41
Type II hyperlipoproteinemia, hyperapobetalipoproteinemia, and hyperalphalipoproteinemia following renal transplantation: implications for atherogenic risk. (3303510)
1987
42
High density lipoproteins with poor reactivity to cholesteryl ester transfer reaction observed in a homozygote of familial hyperalphalipoproteinemia. (3789924)
1986
43
A pedigree of homozygous familial hyperalphalipoproteinemia. (6738363)
1984
44
Metabolic abnormalities in multiple symmetric lipomatosis: elevated lipoprotein lipase activity in adipose tissue with hyperalphalipoproteinemia. (6875381)
1983
45
Complex segregation analysis of hyperalphalipoproteinemia. (7078431)
1982
46
Hyperalphalipoproteinemia, birth to age to years. (7208170)
1981
47
Hyperalphalipoproteinemia in hypercholesterolemic adults and children. (7245576)
1980
48
Neonatal familial hyperalphalipoproteinemia. (191726)
1977
49
Composition of HDL-2 and HDL-3 in familial hyperalphalipoproteinemia. (186077)
1976
50
Familial hyperalphalipoproteinemia. (168823)
1975

Variations for Hyperalphalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia:

68
id Symbol AA change Variation ID SNP ID
1CETPp.Asp459GlyVAR_004172rs2303790
2CETPp.Leu168ProVAR_033099
3CETPp.Arg299CysVAR_033100rs142459781

Clinvar genetic disease variations for Hyperalphalipoproteinemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CETPCETP, IVS14DS, G-A, +1single nucleotide variantPathogenic
2CETPNM_000078.2(CETP): c.1376A> G (p.Asp459Gly)single nucleotide variantPathogenicrs2303790GRCh37Chr 16, 57017292: 57017292
3CETPCETP, 1-BP INS, T, IVS14, +3insertionPathogenic

Expression for genes affiliated with Hyperalphalipoproteinemia

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Search GEO for disease gene expression data for Hyperalphalipoproteinemia.

Pathways for genes affiliated with Hyperalphalipoproteinemia

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Pathways related to Hyperalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.9ABCA1, CETP
29.7LIPC, LIPG
39.6ABCA1, LDLR
4
Show member pathways
9.5ABCA1, APOA1, SCARB1
59.5ABCA1, APOA1, APOA2
69.4APOA1, APOB, SCARB1
7
Show member pathways
9.4APOA1, APOB, SCARB1
8
Show member pathways
9.2LIPC, LIPG, LPL
9
Show member pathways
9.2LDLR, LPL, SCARB1
109.1ABCA1, APOA1, APOB, SCARB1
11
Show member pathways
8.9APOA1, APOA2, APOC3, LPL, PLTP
12
Show member pathways
8.5ABCA1, APOA1, APOB, LDLR, SCARB1
13
Show member pathways
8.2APOA1, APOA2, APOB, APOC3, LDLR, LPL
14
Show member pathways
8.2APOA1, APOA2, APOB, APOC3, LDLR, LPL
15
Show member pathways
6.5ABCA1, APOA1, APOA2, APOB, APOC3, CETP
16
Show member pathways
5.9ABCA1, APOA1, APOA2, APOB, APOC3, CETP
17
Show member pathways
4.5ABCA1, APOA1, APOA2, APOB, APOC3, CETP

GO Terms for genes affiliated with Hyperalphalipoproteinemia

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:003436310.6APOB, APOC3
2endocytic vesicle lumenGO:007168210.5APOA1, APOB
3spherical high-density lipoprotein particleGO:00343669.6APOA1, APOA2, APOC3, PON1
4endoplasmic reticulum lumenGO:00057889.5APOA1, APOA2, APOB, LIPC
5blood microparticleGO:00725629.5APOA1, APOA2, PON1
6chylomicronGO:00426279.5APOA1, APOA2, APOB, APOC3, LPL
7very-low-density lipoprotein particleGO:00343619.5APOA1, APOA2, APOB, APOC3, LPL
8low-density lipoprotein particleGO:00343629.5APOB, LDLR, PLA2G7
9high-density lipoprotein particleGO:00343648.7ABCA1, APOA1, APOA2, CETP, LCAT, LIPC
10early endosomeGO:00057698.3APOA1, APOA2, APOB, APOC3, LDLR, LIPC
11cell surfaceGO:00099867.8ABCA1, APOA1, LDLR, LIPC, LIPG, LPL
12extracellular exosomeGO:00700627.3APOA1, APOA2, APOB, APOC3, CETP, LCAT
13extracellular regionGO:00055765.6APOA1, APOA2, APOB, APOC3, CETP, LCAT
14extracellular spaceGO:00056155.4APOA1, APOA2, APOB, APOC3, CETP, LCAT

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

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:003438210.6APOC3, LIPC
2negative regulation of cholesterol importGO:006062110.5APOA2, APOC3
3protein oxidationGO:001815810.5APOA1, APOA2
4peptidyl-methionine modificationGO:001820610.5APOA1, APOA2
5negative regulation of lipase activityGO:006019210.5APOA1, APOA2
6regulation of intestinal cholesterol absorptionGO:003030010.5APOA1, APOA2
7blood vessel endothelial cell migrationGO:004353410.5APOA1, SCARB1
8positive regulation of cholesterol esterificationGO:001087310.5APOA1, APOA2
9negative regulation of cytokine secretion involved in immune responseGO:000274010.4APOA1, APOA2
10chylomicron remodelingGO:003437110.4LIPC, LPL
11regulation of phosphatidylcholine catabolic processGO:001089910.3LDLR, SCARB1
12negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.2APOA1, APOA2, APOC3
13regulation of Cdc42 protein signal transductionGO:003248910.2ABCA1, APOA1, APOC3
14very-low-density lipoprotein particle assemblyGO:003437910.2APOB, APOC3
15lipoprotein catabolic processGO:004215910.1APOB, LDLR
16high-density lipoprotein particle clearanceGO:003438410.1APOA1, APOA2, SCARB1
17high-density lipoprotein particle assemblyGO:003438010.1ABCA1, APOA1, APOA2
18phosphatidylcholine biosynthetic processGO:000665610.1APOA1, APOA2, LCAT
19response to glucocorticoidGO:005138410.1APOA2, LCAT, LIPC
20phospholipid metabolic processGO:00066449.9APOA1, LCAT, LPL
21cholesterol importGO:00705089.9APOA1, LDLR, SCARB1
22phosphatidylcholine metabolic processGO:00464709.9CETP, LCAT, PON1
23positive regulation of cholesterol storageGO:00108869.9APOB, LPL, SCARB1
24phospholipid effluxGO:00337009.8ABCA1, APOA1, APOA2, APOC3
25positive regulation of cholesterol effluxGO:00108759.8ABCA1, PLTP, PON1
26lipid transportGO:00068699.8APOA2, CETP, PLTP, SCARB1
27response to fatty acidGO:00705429.8APOC3, LIPC, PON1
28very-low-density lipoprotein particle remodelingGO:00343729.8CETP, LCAT, LIPC, LPL
29positive regulation of triglyceride biosynthetic processGO:00108679.7APOC3, LDLR, SCARB1
30phospholipid homeostasisGO:00550919.6ABCA1, APOA1, CETP, LIPG
31triglyceride metabolic processGO:00066419.5APOA2, APOC3, CETP, LPL
32lipoprotein biosynthetic processGO:00421589.4ABCA1, APOA1, APOA2, APOB, LCAT
33low-density lipoprotein particle clearanceGO:00343839.3APOB, LDLR, LIPC, SCARB1
34phospholipid transportGO:00159149.3ABCA1, APOA1, CETP, LDLR, SCARB1
35triglyceride homeostasisGO:00703289.2APOA1, APOC3, CETP, LIPC, LPL, SCARB1
36triglyceride catabolic processGO:00194339.2APOA1, APOB, APOC3, LIPC, LPL
37lipid catabolic processGO:00160429.2APOB, LPL, PLA2G7
38positive regulation of inflammatory responseGO:00507299.1LDLR, LPL, PLA2G7
39cholesterol effluxGO:00333449.1ABCA1, APOA1, APOA2, APOB, APOC3, SCARB1
40retinoid metabolic processGO:00015239.0APOA1, APOA2, APOB, APOC3, LPL
41low-density lipoprotein particle remodelingGO:00343748.9APOA2, APOB, CETP, LIPC, PLA2G7
42receptor-mediated endocytosisGO:00068988.8APOA1, APOB, CETP, LDLR, SCARB1
43response to drugGO:00424938.5ABCA1, APOA1, APOA2, APOC3, LIPC, LPL
44lipid metabolic processGO:00066298.4APOB, LDLR, LIPG, PLTP, PON1
45high-density lipoprotein particle remodelingGO:00343758.2APOA1, APOA2, APOC3, CETP, LCAT, LIPC
46reverse cholesterol transportGO:00436918.1ABCA1, APOA1, APOA2, APOC3, CETP, LCAT
47cholesterol transportGO:00303018.0ABCA1, APOA1, APOA2, APOB, CETP, LCAT
48lipoprotein metabolic processGO:00421577.4ABCA1, APOA1, APOA2, APOB, APOC3, CETP
49cholesterol metabolic processGO:00082037.4ABCA1, APOA1, APOA2, APOB, CETP, LCAT
50cholesterol homeostasisGO:00426326.5ABCA1, APOA1, APOA2, APOB, APOC3, CETP

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:003419010.4APOA1, APOA2
2phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.4APOA1, APOA2
3phosphatidylcholine 1-acylhydrolase activityGO:000897010.4LIPC, LIPG
4triglyceride bindingGO:001712910.2CETP, LPL
5high-density lipoprotein particle receptor bindingGO:007065310.1APOA1, APOA2, APOC3
6lipase inhibitor activityGO:005510210.1APOA1, APOA2, APOC3
7lipoprotein lipase activityGO:000446510.1LIPG, LPL
8apolipoprotein A-I bindingGO:003418610.1ABCA1, LCAT, SCARB1
9lipid transporter activityGO:000531910.0APOA1, APOA2, CETP
10phosphatidylcholine bindingGO:003121010.0APOA1, APOA2, CETP
11high-density lipoprotein particle bindingGO:000803510.0APOA1, APOA2, SCARB1
12phospholipid transporter activityGO:00055489.9ABCA1, APOA1, CETP
13triglyceride lipase activityGO:00048069.9LIPC, LPL
14low-density lipoprotein particle bindingGO:00301699.7LDLR, LIPC, SCARB1
15apolipoprotein bindingGO:00341859.6ABCA1, LIPC, LPL, SCARB1
16phospholipase activityGO:00046209.4LIPC, LIPG, LPL
17cholesterol bindingGO:00154859.4ABCA1, APOA1, APOA2, APOC3, CETP
18cholesterol transporter activityGO:00171279.3ABCA1, APOA1, APOA2, APOB, CETP
19heparin bindingGO:00082019.1APOB, LIPC, LIPG, LPL
20lipid bindingGO:00082898.7APOA1, APOA2, APOB, CETP, LIPC, PLTP
21phospholipid bindingGO:00055437.4ABCA1, APOA1, APOA2, APOB, APOC3, PLA2G7

Sources for Hyperalphalipoproteinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet