HALP1
MCID: HYP090
MIFTS: 48

Hyperalphalipoproteinemia (HALP1) malady

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

Aliases & Classifications for Hyperalphalipoproteinemia

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hyperalphalipoproteinemia:

Name: Hyperalphalipoproteinemia 52 27 12 50
Cholesteryl Ester Transfer Protein Deficiency 70 68
Familial Hyperalphalipoproteinemia 54 68
Hyperalphalipoproteinemia 1 70 68
 
Cetp Deficiency 70 50
Cholesterol-Ester Transfer Protein Deficiency 54
Cept Deficiency 54
Halp1 70

Characteristics:

Orphanet epidemiological data:

54
familial hyperalphalipoproteinemia:
Inheritance: Autosomal dominant,Autosomal recessive

HPO:

64
hyperalphalipoproteinemia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 143470
Orphanet54 ORPHA79506
ICD10 via Orphanet31 E78.4
MeSH39 D006951

Summaries for Hyperalphalipoproteinemia

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. 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 Increased LDL uptake and Decreased free cholesterol.

Description from OMIM:52 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 60)
idRelated DiseaseScoreTop Affiliating Genes
1lipomatosis28.5APOA1, APOB, APOC3, APOE, CETP, LCAT
2hypertriglyceridemia27.9ABCA1, APOA1, APOA2, APOB, APOC3, APOE
3cetp-related hyperalphalipoproteinemia11.8
4apolipoprotein c-iii deficiency11.6
5arena syndrome10.2APOA1, LCAT
6polycystic kidney disease, infantile severe, with tuberous sclerosis10.2LIPC, LPL
7abducens nerve neoplasm10.2LIPC, LPL
8tyrosinemia, type ii10.2APOA1, APOA2, LCAT
9alport syndrome and thin basement membrane nephropathy10.1APOE, LPL
10fetal warfarin syndrome10.1APOA1, APOB, LCAT
11hepatitis10.1
12lipoprotein glomerulopathy10.1APOE, LCAT
13zap-70 deficiency10.1APOB, APOE
14iron metabolism disease10.1APOE, PLTP
15c1s deficiency10.0APOE, LPL
16primary pigmented nodular adrenocortical disease10.0APOA1, APOB, APOE
17optic nerve neoplasm10.0APOA1, APOB, APOE
18familial progressive cardiac conduction defect10.0APOA1, APOA2, APOE, LCAT
19hyperchlorhidrosis, isolated10.0APOA1, APOE, LIPC, LPL
20pars planitis9.9APOA1, APOE
21albinism, oculocutaneous, type v9.9APOA1, APOA2, APOB, APOE
22joint disorders9.9APOA1, APOB, APOE, LPL
23hard palate cancer9.9APOA1, APOA2, APOE
24heart disease9.9
25dyserythropoietic anemia, congenital, type ii9.9APOA1, APOC3, APOE, LCAT, SCARB1
26keratoconus 49.8APOB, APOE, LDLR
27myelophthisic anemia9.8APOA1, APOB, APOE, PON1
28camptodactyly-arthropathy-coxa vara-pericarditis syndrome9.8ABCA1, APOB, APOE, CETP, LIPC
29pontocerebellar hypoplasia, type 109.8ABCA1, APOE, LDLR
30mannosidosis, beta9.7APOA1, APOB, APOE, CETP, LCAT, LPL
31gait apraxia9.7APOA1, APOB, APOE, CETP, PON1
32coronary artery disease9.7
33hypoalphalipoproteinemia9.7
34atherosclerosis9.7
35artery disease9.7
36multiple symmetrical lipomatosis9.7
37dentinogenesis imperfecta type 29.7APOB, APOE, LCAT, LDLR
38hypercholesterolemia, due to ligand-defective apo b9.7APOB, APOE, LCAT, LDLR
39bleeding disorder, east texas type9.6APOA1, APOA2, APOB, APOC3, APOE, LIPC
40alzheimer disease 19, late onset9.6APOA2, APOB, APOE, LCAT, LDLR
41bird fancier's lung9.6ABCA1, APOA1, APOA2, APOB, APOE, LCAT
42neuropathy, hereditary sensory and autonomic, type ia9.5ABCA1, APOA1, APOA2, APOB, APOE, CETP
43cervix small cell carcinoma9.5APOA1, APOB, APOE, LDLR, PON1
44severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome9.5ABCA1, APOB, APOE, LDLR, LIPC, LPL
45asphyxia neonatorum9.5ABCA1, APOE, LDLR, LPL, PON1
46skin squamous cell carcinoma9.5APOA1, APOB, APOE, CETP, LDLR, LIPC
47stone in bladder diverticulum9.4APOA1, APOA2, APOB, APOE, CETP, LCAT
48acute apical periodontitis9.3APOA1, APOB, APOC3, APOE, CETP, LCAT
49immunodeficiency 189.2APOA1, APOA2, APOB, APOC3, APOE, CETP
50von willebrand disease, platelet-type9.2APOA1, APOA2, APOB, APOC3, APOE, CETP

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia:



Diseases related to hyperalphalipoproteinemia

Symptoms & Phenotypes for Hyperalphalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

143470

Clinical features from OMIM:

143470

Human phenotypes related to Hyperalphalipoproteinemia:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia64 54 Obligate (100%) HP:0003077
2 hypercholesterolemia64 54 Obligate (100%) HP:0003124
3 hyperlipoproteinemia54 Obligate (100%)
4 hyperalphalipoproteinemia64 54 Obligate (100%) HP:0012184
5 hypotriglyceridemia64 54 Frequent (79-30%) HP:0012153
6 precocious atherosclerosis54 Excluded (0%)
7 tendon xanthomatosis54 Excluded (0%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-19.5APOA1, APOE, LDLR, LPL
2GR00340-A-27.3ABCA1, APOA1, APOB, APOC3, APOE, CETP

MGI Mouse Phenotypes related to Hyperalphalipoproteinemia according to GeneCards Suite gene sharing:

41
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

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, investigational41958-61-760961
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 Solutions8192

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 Hyperalphalipoproteinemia27

Anatomical Context for Hyperalphalipoproteinemia

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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
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

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UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia:

70
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, +1SNVPathogenic
2CETPCETP, 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
29.6ABCA1, LDLR
39.6LIPC, LIPG
49.6APOA1, APOB, SCARB1
59.5ABCA1, APOA1, APOA2
69.4APOA1, APOA2, APOC3, PLTP
79.3LDLR, LPL, SCARB1
8
Show member pathways
9.2LIPC, LIPG, LPL
9
Show member pathways
9.2ABCA1, APOA1, APOB, SCARB1
10
Show member pathways
9.0APOA1, APOB, APOE, SCARB1
119.0APOA1, APOA2, APOC3, LPL, PLTP
12
Show member pathways
8.2ABCA1, APOA1, APOB, APOE, LDLR, SCARB1
13
Show member pathways
7.9APOA1, APOA2, APOB, APOC3, APOE, LDLR
14
Show member pathways
7.9APOA1, APOA2, APOB, APOC3, APOE, LDLR
15
Show member pathways
6.2ABCA1, APOA1, APOA2, APOB, APOC3, APOE
16
Show member pathways
5.6ABCA1, APOA1, APOA2, APOB, APOC3, APOE
17
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 15)
idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:007168210.1APOA1, APOB, APOE
2clathrin-coated endocytic vesicle membraneGO:003066910.0APOB, APOE, LDLR
3endoplasmic reticulum lumenGO:00057889.6APOA1, APOA2, APOB, APOE, LIPC
4intermediate-density lipoprotein particleGO:00343639.5APOA1, APOB, APOC3, APOE
5blood microparticleGO:00725629.4APOA1, APOA2, APOE, PON1
6chylomicronGO:00426279.2APOA1, APOA2, APOB, APOC3, APOE, LPL
7spherical high-density lipoprotein particleGO:00343669.2APOA1, APOA2, APOC3, PON1
8cell surfaceGO:00099868.9ABCA1, APOA1, LDLR, LIPG, LPL, SCARB1
9low-density lipoprotein particleGO:00343628.7APOA1, APOB, APOE, LDLR, PLA2G7
10early endosomeGO:00057698.5APOA1, APOA2, APOB, APOC3, APOE, LDLR
11very-low-density lipoprotein particleGO:00343618.4APOA1, APOA2, APOB, APOC3, APOE, LPL
12high-density lipoprotein particleGO:00343647.9ABCA1, APOA1, APOA2, APOE, CETP, LCAT
13extracellular exosomeGO:00700627.5APOA1, APOA2, APOB, APOC3, APOE, CETP
14extracellular regionGO:00055766.1APOA1, APOA2, APOB, APOC3, APOE, CETP
15extracellular spaceGO:00056155.4APOA1, APOA2, APOB, APOC3, APOE, CETP

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

(show top 50)    (show all 69)
idNameGO IDScoreTop Affiliating Genes
1blood vessel endothelial cell migrationGO:004353410.7APOA1, SCARB1
2negative regulation of cholesterol importGO:006062110.7APOA2, APOC3
3negative regulation of lipid catabolic processGO:005099510.7APOA2, APOC3
4endothelial cell proliferationGO:000193510.7APOA1, SCARB1
5negative regulation of cytokine secretion involved in immune responseGO:000274010.7APOA1, APOA2
6negative regulation of lipase activityGO:006019210.7APOA1, APOA2
7peptidyl-methionine modificationGO:001820610.7APOA1, APOA2
8negative regulation of macrophage derived foam cell differentiationGO:001074510.7ABCA1, CETP
9protein oxidationGO:001815810.6APOA1, APOA2
10regulation of intestinal cholesterol absorptionGO:003030010.6APOA1, APOA2
11regulation of high-density lipoprotein particle assemblyGO:009010710.6ABCA1, LCAT
12regulation of lipoprotein lipase activityGO:005100410.6LIPC, LPL
13lipid homeostasisGO:005508810.5APOE, CETP
14positive regulation of macrophage derived foam cell differentiationGO:001074410.5APOB, LPL
15positive regulation of triglyceride biosynthetic processGO:001086710.5LDLR, SCARB1
16regulation of phosphatidylcholine catabolic processGO:001089910.5LDLR, SCARB1
17neuron projection regenerationGO:003110210.5APOA1, APOE
18cholesterol catabolic processGO:000670710.4APOE, SCARB1
19negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.4APOA1, APOA2, APOC3
20positive regulation of nitric-oxide synthase activityGO:005100010.4APOE, SCARB1
21artery morphogenesisGO:004884410.4APOB, APOE
22lipid digestionGO:004424110.4LIPC, LIPG
23phosphatidylcholine biosynthetic processGO:000665610.4APOA1, APOA2, LCAT
24phospholipid catabolic processGO:000939510.3APOA2, LIPG
25phospholipid metabolic processGO:000664410.3APOA1, LCAT, LPL
26regulation of lipid metabolic processGO:001921610.3ABCA1, APOA1, APOA2
27cholesterol importGO:007050810.2APOA1, LDLR, SCARB1
28positive regulation of cholesterol storageGO:001088610.2APOB, LPL, SCARB1
29very-low-density lipoprotein particle assemblyGO:003437910.2APOB, APOC3
30low-density lipoprotein particle clearanceGO:003438310.1APOB, LDLR, SCARB1
31positive regulation of cholesterol esterificationGO:001087310.1APOA1, APOA2, APOE
32response to nutrientGO:000758410.0ABCA1, APOA1, LIPG
33lipoprotein catabolic processGO:00421599.9APOB, APOE, LDLR
34phosphatidylcholine metabolic processGO:00464709.9CETP, LCAT, PON1
35positive regulation of inflammatory responseGO:00507299.9LDLR, LPL, PLA2G7
36response to drugGO:00424939.9ABCA1, APOA1, APOA2, LPL
37high-density lipoprotein particle clearanceGO:00343849.8APOA1, APOA2, APOE, SCARB1
38regulation of Cdc42 protein signal transductionGO:00324899.8ABCA1, APOA1, APOC3, APOE
39cellular protein metabolic processGO:00442679.8APOA1, APOA2, APOB, APOE
40very-low-density lipoprotein particle clearanceGO:00344479.8APOB, APOE
41post-translational protein modificationGO:00436879.8APOA1, APOA2, APOB, APOE
42high-density lipoprotein particle assemblyGO:00343809.8ABCA1, APOA1, APOA2, APOE
43phospholipid homeostasisGO:00550919.8ABCA1, APOA1, CETP, LIPG
44phospholipid transportGO:00159149.6ABCA1, APOA1, CETP, LDLR, SCARB1
45chylomicron assemblyGO:00343789.6APOA1, APOA2, APOB, APOC3, APOE
46phospholipid effluxGO:00337009.5ABCA1, APOA1, APOA2, APOC3, APOE
47chylomicron remnant clearanceGO:00343829.5APOB, APOC3, APOE, LDLR, LIPC
48positive regulation of cholesterol effluxGO:00108759.3ABCA1, APOE, PLTP, PON1
49chylomicron remodelingGO:00343719.2APOA1, APOA2, APOB, APOC3, APOE, LPL
50triglyceride metabolic processGO:00066419.1APOA2, APOC3, APOE, CETP, LPL

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:003419010.6APOA1, APOA2
2high-density lipoprotein particle receptor bindingGO:007065310.3APOA1, APOA2, APOC3
3lipase inhibitor activityGO:005510210.3APOA1, APOA2, APOC3
4lipoprotein particle bindingGO:007181310.3APOA1, APOE
5high-density lipoprotein particle bindingGO:000803510.2APOA1, APOA2, SCARB1
6phosphatidylcholine bindingGO:003121010.2APOA1, APOA2, CETP
7apolipoprotein A-I bindingGO:003418610.2ABCA1, LCAT, SCARB1
8low-density lipoprotein particle receptor bindingGO:005075010.2APOB, APOE
9triglyceride bindingGO:001712910.2CETP, LPL
10low-density lipoprotein particle bindingGO:003016910.0LDLR, LIPC, SCARB1
11lipoprotein lipase activityGO:000446510.0LIPG, LPL
12phospholipid transporter activityGO:000554810.0ABCA1, APOA1, CETP
13phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.9APOA1, APOA2, APOE
14carboxylic ester hydrolase activityGO:00526899.9LIPC, LIPG, LPL
15apolipoprotein bindingGO:00341859.8ABCA1, LIPC, LPL, SCARB1
16phospholipase activityGO:00046209.7LIPC, LIPG, LPL
17lipid transporter activityGO:00053199.4APOA1, APOA2, APOB, APOE, CETP
18cholesterol bindingGO:00154859.2ABCA1, APOA1, APOA2, APOC3, APOE, CETP
19triglyceride lipase activityGO:00048069.2LIPC, LIPG, LPL
20cholesterol transporter activityGO:00171279.1ABCA1, APOA1, APOA2, APOB, APOE, CETP
21heparin bindingGO:00082019.0APOB, APOE, LIPC, LIPG, LPL
22lipid bindingGO:00082898.9APOA1, APOA2, APOB, APOC3, APOE, CETP
23phospholipid bindingGO:00055437.5ABCA1, APOA1, APOA2, APOB, APOC3, APOE

Sources for Hyperalphalipoproteinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet