MCID: HYP090
MIFTS: 46

Hyperalphalipoproteinemia malady

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

Aliases & Classifications for Hyperalphalipoproteinemia

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hyperalphalipoproteinemia:

Name: Hyperalphalipoproteinemia 51 26 12 49
Cholesteryl Ester Transfer Protein Deficiency 69 67
Familial Hyperalphalipoproteinemia 53 67
Hyperalphalipoproteinemia 1 69 67
 
Cetp Deficiency 69 49
Cholesterol-Ester Transfer Protein Deficiency 53
Cept Deficiency 53
Halp1 69

Characteristics:

Orphanet epidemiological data:

53
familial hyperalphalipoproteinemia:
Inheritance: Autosomal dominant,Autosomal recessive

HPO:

63
hyperalphalipoproteinemia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 143470
Orphanet53 ORPHA79506
ICD10 via Orphanet30 E78.4
MeSH38 D006951

Summaries for Hyperalphalipoproteinemia

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UniProtKB/Swiss-Prot:69 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 SREBF and miR33 in cholesterol and lipid homeostasis. Related mouse phenotypes are liver/biliary system and cardiovascular system.

Description from OMIM:51 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 63)
idRelated DiseaseScoreTop Affiliating Genes
1apolipoprotein c-iii deficiency28.6ABCA1, APOA1, APOA2, APOB, APOC3, APOE
2coronary artery disease25.4ABCA1, APOA1, APOA2, APOB, APOC3, APOE
3cetp-related hyperalphalipoproteinemia11.8
4intellectual disability-developmental delay-contractures syndrome10.5APOA1, LCAT
5spondylometaphyseal dysplasia, megarbane-dagher-melike type10.4LIPC, LPL
6amyoplasia mandibulofacial dysostosis10.3APOA1, APOA2
7tyrosinemia, type ii10.3APOA1, APOA2, LCAT
8atp1a3-related neurologic disorders10.2APOE, LPL
9fetal methyl mercury syndrome10.2APOA1, APOB, LCAT
10dysmorphism-pectus carinatum-joint laxity syndrome10.2APOB, APOE
11lipoprotein glomerulopathy10.2APOE, LCAT
12hepatitis10.1
13c1s deficiency10.1APOE, LPL
14dermal unilateral segmental cavernous angioma10.1APOB, APOE
15shwachman-diamond type metaphyseal dysplasia10.1APOA1, APOB
16dyserythropoietic anemia, congenital, type ii10.1APOA1, APOC3, LCAT, SCARB1
17blue toe syndrome10.0APOB, LCAT, LIPC, LPL
18glossopharyngeal nerve neoplasm9.9APOA1, APOB, APOE
19casr-related disorders9.9APOB, APOE
20peripheral degeneration of cornea9.9APOB, APOE
21legg-calve-perthes disease9.9APOA1, APOB
22amelogenesis imperfecta, type iia39.9APOA1, APOE, LIPC, LPL
23heart disease9.9
24pontocerebellar hypoplasia9.9APOA1, APOB, APOE, CETP
25gemistocytic astrocytoma9.8APOA1, APOB, APOE
26hypoalphalipoproteinemia9.7
27hypertriglyceridemia9.7
28atherosclerosis9.7
29artery disease9.7
30multiple symmetrical lipomatosis9.7
31lipomatosis9.7
32iron metabolism disease9.6APOA1, APOB, APOE, PON1
33pyelonephritis9.6APOB, APOE, CETP, PON1
34littre gland carcinoma9.6APOA1, APOB, APOE, PON1
35hypercholesterolemia, due to ligand-defective apo b9.5APOB, APOE, LDLR
36conjunctival disease9.5APOA1, APOE, CETP, LPL, PON1
37macular degeneration, age-related, 19.5ABCA1, APOB, APOE, CETP, LIPC
38islet cell tumor9.4ABCA1, APOA1, APOB, APOE, LPL
39hepatic adenoma, somatic9.4APOA1, APOB, APOC3, LPL, PON1
40hemochromatosis, type 59.4ABCA1, APOE, LDLR
41wolfram syndrome 29.4APOA1, APOB, APOE, CETP, LCAT, LPL
42degos 'en cocarde' erythrokeratoderma9.3APOB, APOE, LCAT, LDLR
43hypobetalipoproteinemia9.3APOB, APOE, LCAT, LDLR
44polyneuropathy9.2ABCA1, APOA1, APOA2, APOB, APOE, LCAT
45alzheimer disease 19, late onset9.1APOA2, APOB, APOE, LCAT, LDLR
46arthritis9.1ABCA1, APOE, LDLR, PON1
47diabetes mellitus, noninsulin-dependent9.0APOA1, APOB, APOC3, CETP, LIPC, LPL
48bladder diverticulum8.9APOA1, APOA2, APOB, APOE, LCAT, LDLR
49obesity, hyperphagia, and developmental delay8.8ABCA1, APOA1, APOA2, APOB, APOE, CETP
50rubinstein taybi like syndrome8.7APOA1, APOB, APOE, CETP, LDLR, LIPC

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

Human phenotypes related to Hyperalphalipoproteinemia:

 63
id Description HPO Frequency HPO Source Accession
1 hyperalphalipoproteinemia63 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
Adenosineapproved, investigational39758-61-760961
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
2Pharmaceutical Solutions7793

Interventional clinical trials:

idNameStatusNCT IDPhase
1Relationship Between CETP Deficiency and Atherosclerosis in Patients With HyperalphalipoproteinemiaUnknown statusNCT01916512
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 Hyperalphalipoproteinemia26

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.5ABCA1, APOA1, APOB, APOE, LCAT, LDLR
2MP:00053856.9ABCA1, APOA1, APOB, APOE, LCAT, LDLR
3MP:00053766.0ABCA1, APOA1, APOA2, APOB, APOE, LCAT

Publications for Hyperalphalipoproteinemia

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Articles related to Hyperalphalipoproteinemia:

(show top 50)    (show all 63)
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:

69
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, +1SNVPathogenicChr na, -1: -1
2CETPNM_000078.2(CETP): c.1376A> G (p.Asp459Gly)SNVPathogenicrs2303790GRCh37Chr 16, 57017292: 57017292
3CETPCETP, 1-BP INS, T, IVS14, +3insertionPathogenicChr na, -1: -1

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 15)
idSuper pathwaysScoreTop Affiliating Genes
19.9ABCA1, CETP
29.6ABCA1, LDLR
39.6LIPC, LIPG
49.6APOA1, APOB, SCARB1
59.5ABCA1, APOA1, APOA2
6
Show member pathways
9.2LIPC, LIPG, LPL
7
Show member pathways
9.2ABCA1, APOA1, APOB, SCARB1
8
Show member pathways
9.0APOA1, APOB, APOE, SCARB1
9
Show member pathways
9.0ABCA1, APOA1, APOE, SCARB1
109.0APOA1, APOA2, APOC3, LPL, PLTP
11
Show member pathways
7.9APOA1, APOA2, APOB, APOC3, APOE, LDLR
12
Show member pathways
7.9APOA1, APOA2, APOB, APOC3, APOE, LDLR
13
Show member pathways
6.2ABCA1, APOA1, APOA2, APOB, APOC3, APOE
14
Show member pathways
5.6ABCA1, APOA1, APOA2, APOB, APOC3, APOE
15
Show member pathways
4.3ABCA1, APOA1, APOA2, APOB, APOC3, APOE

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:003436310.2APOB, APOC3, APOE
2endocytic vesicle lumenGO:007168210.1APOA1, APOB, APOE
3endoplasmic reticulum lumenGO:00057889.7APOA1, APOA2, APOB, LIPC
4spherical high-density lipoprotein particleGO:00343669.5APOA1, APOA2, APOC3, PON1
5low-density lipoprotein particleGO:00343629.4APOB, APOE, LDLR, PLA2G7
6chylomicronGO:00426279.2APOA1, APOA2, APOB, APOC3, APOE, LPL
7very-low-density lipoprotein particleGO:00343619.1APOA1, APOA2, APOB, APOC3, APOE, LPL
8blood microparticleGO:00725628.5APOA1, APOA2, APOE, PON1
9high-density lipoprotein particleGO:00343648.1ABCA1, APOA1, APOA2, APOE, CETP, LCAT
10cell surfaceGO:00099867.9ABCA1, APOA1, LDLR, LIPC, LIPG, LPL
11early endosomeGO:00057697.9APOA1, APOA2, APOB, APOC3, APOE, LDLR
12extracellular exosomeGO:00700626.8APOA1, APOA2, APOB, APOC3, APOE, CETP
13extracellular regionGO:00055765.6APOA1, APOA2, APOB, APOC3, APOE, CETP
14extracellular spaceGO:00056155.5APOA1, APOA2, APOB, APOC3, APOE, CETP

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cholesterol importGO:006062110.6APOA2, APOC3
2protein oxidationGO:001815810.6APOA1, APOA2
3regulation of intestinal cholesterol absorptionGO:003030010.6APOA1, APOA2
4negative regulation of lipase activityGO:006019210.6APOA1, APOA2
5peptidyl-methionine modificationGO:001820610.5APOA1, APOA2
6negative regulation of cytokine secretion involved in immune responseGO:000274010.5APOA1, APOA2
7chylomicron remodelingGO:003437110.5LIPC, LPL
8regulation of phosphatidylcholine catabolic processGO:001089910.4LDLR, SCARB1
9negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.3APOA1, APOA2, APOC3
10neuron projection regenerationGO:003110210.3APOA1, APOE
11very-low-density lipoprotein particle assemblyGO:003437910.3APOB, APOC3
12phosphatidylcholine biosynthetic processGO:000665610.2APOA1, APOA2, LCAT
13chylomicron remnant clearanceGO:003438210.1APOC3, APOE, LIPC
14cholesterol catabolic processGO:000670710.1APOE, SCARB1
15phospholipid metabolic processGO:000664410.1APOA1, LCAT, LPL
16positive regulation of cholesterol esterificationGO:001087310.0APOA1, APOA2, APOE
17cholesterol importGO:007050810.0APOA1, LDLR, SCARB1
18positive regulation of cholesterol storageGO:001088610.0APOB, LPL, SCARB1
19lipid transportGO:00068699.9APOA2, CETP, PLTP, SCARB1
20positive regulation of triglyceride biosynthetic processGO:00108679.9APOC3, LDLR, SCARB1
21lipoprotein catabolic processGO:00421599.8APOB, APOE, LDLR
22regulation of Cdc42 protein signal transductionGO:00324899.7ABCA1, APOA1, APOC3, APOE
23high-density lipoprotein particle clearanceGO:00343849.7APOA1, APOA2, APOE, SCARB1
24phosphatidylcholine metabolic processGO:00464709.7CETP, LCAT, PON1
25response to fatty acidGO:00705429.7APOC3, LIPC, PON1
26high-density lipoprotein particle assemblyGO:00343809.7ABCA1, APOA1, APOA2, APOE
27positive regulation of inflammatory responseGO:00507299.6LDLR, LPL, PLA2G7
28phospholipid homeostasisGO:00550919.6ABCA1, APOA1, CETP, LIPG
29lipid catabolic processGO:00160429.5APOB, LPL, PLA2G7
30low-density lipoprotein particle clearanceGO:00343839.5APOB, LDLR, LIPC, SCARB1
31phospholipid effluxGO:00337009.4ABCA1, APOA1, APOA2, APOC3, APOE
32phospholipid transportGO:00159149.4ABCA1, APOA1, CETP, LDLR, SCARB1
33very-low-density lipoprotein particle remodelingGO:00343729.4APOE, CETP, LCAT, LIPC, LPL
34triglyceride homeostasisGO:00703289.3APOA1, APOC3, CETP, LIPC, LPL, SCARB1
35triglyceride metabolic processGO:00066419.2APOA2, APOC3, APOE, CETP, LPL
36positive regulation of cholesterol effluxGO:00108759.2ABCA1, APOE, PLTP, PON1
37lipoprotein biosynthetic processGO:00421589.0ABCA1, APOA1, APOA2, APOB, APOE, LCAT
38low-density lipoprotein particle remodelingGO:00343748.9APOA2, APOB, APOE, CETP, LIPC, PLA2G7
39triglyceride catabolic processGO:00194338.8APOA1, APOB, APOC3, APOE, LIPC, LPL
40cholesterol effluxGO:00333448.8ABCA1, APOA1, APOA2, APOB, APOC3, APOE
41retinoid metabolic processGO:00015238.6APOA1, APOA2, APOB, APOC3, APOE, LPL
42response to drugGO:00424938.6ABCA1, APOA1, APOA2, APOC3, LIPC, LPL
43receptor-mediated endocytosisGO:00068988.5APOA1, APOB, APOE, CETP, LDLR, SCARB1
44cholesterol transportGO:00303018.2ABCA1, APOA1, APOA2, APOB, CETP, LCAT
45high-density lipoprotein particle remodelingGO:00343757.8APOA1, APOA2, APOC3, APOE, CETP, LCAT
46lipid metabolic processGO:00066297.7APOB, APOE, LDLR, LIPG, PLTP, PON1
47reverse cholesterol transportGO:00436917.6ABCA1, APOA1, APOA2, APOC3, APOE, CETP
48lipoprotein metabolic processGO:00421577.3ABCA1, APOA1, APOA2, APOB, APOC3, APOE
49cholesterol metabolic processGO:00082036.9ABCA1, APOA1, APOA2, APOB, APOE, CETP
50cholesterol homeostasisGO:00426326.2ABCA1, APOA1, APOA2, APOB, APOC3, APOE

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:003419010.5APOA1, APOA2
2triglyceride bindingGO:001712910.3CETP, LPL
3high-density lipoprotein particle receptor bindingGO:007065310.3APOA1, APOA2, APOC3
4lipase inhibitor activityGO:005510210.3APOA1, APOA2, APOC3
5phosphatidylcholine 1-acylhydrolase activityGO:000897010.3LIPC, LIPG
6lipoprotein particle bindingGO:007181310.2APOA1, APOE
7phosphatidylcholine bindingGO:003121010.1APOA1, APOA2, CETP
8apolipoprotein A-I bindingGO:003418610.1ABCA1, LCAT, SCARB1
9lipoprotein lipase activityGO:000446510.1LIPG, LPL
10high-density lipoprotein particle bindingGO:000803510.1APOA1, APOA2, SCARB1
11phospholipid transporter activityGO:000554810.0ABCA1, APOA1, CETP
12phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.0APOA1, APOA2, APOE
13triglyceride lipase activityGO:000480610.0LIPC, LPL
14low-density lipoprotein particle bindingGO:00301699.8LDLR, LIPC, SCARB1
15apolipoprotein bindingGO:00341859.6ABCA1, LIPC, LPL, SCARB1
16low-density lipoprotein particle receptor bindingGO:00507509.6APOB, APOE
17lipid transporter activityGO:00053199.6APOA1, APOA2, APOE, CETP
18phospholipase activityGO:00046209.4LIPC, LIPG, LPL
19cholesterol bindingGO:00154859.0ABCA1, APOA1, APOA2, APOC3, APOE, CETP
20cholesterol transporter activityGO:00171278.9ABCA1, APOA1, APOA2, APOB, APOE, CETP
21heparin bindingGO:00082018.6APOB, APOE, LIPC, LIPG, LPL
22lipid bindingGO:00082898.0APOA1, APOA2, APOB, APOE, CETP, LIPC
23phospholipid bindingGO:00055437.1ABCA1, APOA1, APOA2, APOB, APOC3, APOE

Sources for Hyperalphalipoproteinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet