MCID: HYP732
MIFTS: 50

Hyperalphalipoproteinemia 1

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

Aliases & Classifications for Hyperalphalipoproteinemia 1

MalaCards integrated aliases for Hyperalphalipoproteinemia 1:

Name: Hyperalphalipoproteinemia 1 57 75 29 6 73
Hyperalphalipoproteinemia 57 37 13 55 40
Cetp Deficiency 57 75 55
Cholesteryl Ester Transfer Protein Deficiency 75 73
Familial Hyperalphalipoproteinemia 59 73
Halp1 57 75
Cholesterol Ester Transfer Protein Deficiency 57
Cholesterol-Ester Transfer Protein Deficiency 59
Cept Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
cholesterol-ester transfer protein deficiency
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
heterozygous mutation present in 5-7% of the japanese population


HPO:

32
hyperalphalipoproteinemia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 143470
Orphanet 59 ORPHA79506
ICD10 via Orphanet 34 E78.4
UMLS via Orphanet 74 C0342883
MeSH 44 D006951
KEGG 37 H01199

Summaries for Hyperalphalipoproteinemia 1

UniProtKB/Swiss-Prot : 75 Hyperalphalipoproteinemia 1: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.

MalaCards based summary : Hyperalphalipoproteinemia 1, also known as hyperalphalipoproteinemia, is related to arteries, anomalies of and hyperlipidemia, familial combined. An important gene associated with Hyperalphalipoproteinemia 1 is CETP (Cholesteryl Ester Transfer Protein), and among its related pathways/superpathways are PPAR signaling pathway and Metabolism. The drugs Adenosine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are hyperlipidemia and hypercholesterolemia

Description from OMIM: 143470

Related Diseases for Hyperalphalipoproteinemia 1

Diseases related to Hyperalphalipoproteinemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 arteries, anomalies of 27.4 ABCA1 APOA1 APOB APOE CETP LDLR
2 hyperlipidemia, familial combined 26.9 APOA1 APOA2 APOB APOC3 APOE LPL
3 heart disease 25.7 ABCA1 APOA1 APOB APOC3 APOE LDLR
4 coronary heart disease 1 24.6 APOA1 APOA2 APOB APOC3 APOE CETP
5 hypercholesterolemia, familial 23.7 ABCA1 APOA1 APOA2 APOB APOC3 APOE
6 coronary artery anomaly 22.9 ABCA1 APOA1 APOA2 APOB APOC3 APOE
7 apolipoprotein c-iii deficiency 11.8
8 apo a-i deficiency 10.5 APOA1 LCAT
9 generalized atherosclerosis 10.3 APOE PLTP
10 hereditary amyloidosis 10.2 APOA1 APOA2
11 sea-blue histiocyte disease 10.2 APOE LCAT
12 hepatitis 10.2
13 amyloidosis aa 10.2 APOA1 LCAT
14 cerebral atherosclerosis 10.2 APOA1 APOE
15 fish-eye disease 10.1 APOA1 APOA2 LCAT
16 dysbaric osteonecrosis 10.1 APOA1 APOB
17 xanthoma disseminatum 10.1 APOB APOE
18 lipase deficiency, combined 10.0 LIPC LPL
19 fetal macrosomia 10.0 APOA1 APOB LCAT
20 familial lipoprotein lipase deficiency 9.9 LIPC LPL
21 lipomatosis, multiple symmetric 9.8
22 aging 9.8
23 lipomatosis 9.8
24 type i 9.8
25 chylomicron retention disease 9.8 APOA1 APOB
26 carotid artery disease 9.7 APOA1 APOB APOE
27 bardet-biedl syndrome 2 9.7 APOA1 APOC3 LPL
28 alzheimer disease 2 9.7 APOE CETP
29 schnyder corneal dystrophy 9.6 APOA2 APOB APOE
30 hyperlipoproteinemia, type v 9.6 APOE LPL
31 vitamin e, familial isolated deficiency of 9.6 ABCA1 APOA1 APOB
32 hypercholesterolemia, autosomal dominant, type b 9.6 APOB APOE LDLR
33 arteriosclerosis 9.6 APOA1 APOB APOE
34 recurrent acute pancreatitis 9.6 APOE LPL
35 familial lcat deficiency 9.5 APOA1 APOA2 APOE LCAT
36 coronary stenosis 9.5 APOA1 APOB APOE CETP
37 gallbladder disease 9.5 APOA1 APOB APOE CETP
38 smith-lemli-opitz syndrome 9.4 ABCA1 APOE LDLR
39 hepatitis c virus 9.3 APOE LDLR SCARB1
40 leukodystrophy, hypomyelinating, 3 9.3 APOA1 APOA2 APOB APOE
41 defective apolipoprotein b-100 9.2 APOB APOE LCAT LDLR
42 aortic atherosclerosis 9.2 ABCA1 APOE CETP LDLR
43 cerebrovascular disease 9.2 APOA1 APOB APOE LDLR
44 hyperlipidemia, combined, 1 9.2 APOB APOC3 LIPC LPL
45 hepatic lipase deficiency 9.1 APOA1 APOE LIPC LPL
46 macular degeneration, age-related, 1 9.0 ABCA1 APOB APOE LIPC
47 hypobetalipoproteinemia, familial, 1 8.9 APOA1 APOB APOE LCAT LDLR
48 ischemic heart disease 8.8 APOA1 APOB APOE LPL
49 lipoprotein glomerulopathy 8.8 APOA2 APOB APOE LCAT LDLR
50 xanthomatosis 8.7 APOB APOE LDLR LPL

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia 1:



Diseases related to Hyperalphalipoproteinemia 1

Symptoms & Phenotypes for Hyperalphalipoproteinemia 1

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
cholesteryl ester transfer protein deficiency
elevated hdl (2-6x normal) in homozygotes
mildly elevated hdl in heterozygotes
elevated apoa-i (1.8x normal) in homozygotes
normal apoa-ii levels in homozygotes


Clinical features from OMIM:

143470

Human phenotypes related to Hyperalphalipoproteinemia 1:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia 59 32 obligate (100%) Obligate (100%) HP:0003077
2 hypercholesterolemia 59 32 obligate (100%) Obligate (100%) HP:0003124
3 hypotriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0012153
4 hyperlipoproteinemia 59 Obligate (100%)
5 hyperalphalipoproteinemia 59 Obligate (100%)
6 precocious atherosclerosis 59 Excluded (0%)
7 tendon xanthomatosis 59 Excluded (0%)
8 increased hdl cholesterol concentration 32 obligate (100%) HP:0012184

GenomeRNAi Phenotypes related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.65 CETP LDLR LIPC LPL PLTP ABCA1
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hyperalphalipoproteinemia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCA1 APOA1 APOA2 APOB APOE LCAT
2 cardiovascular system MP:0005385 10.01 ABCA1 APOA1 APOB APOE LCAT LDLR
3 endocrine/exocrine gland MP:0005379 9.91 SCARB1 ABCA1 APOA1 APOE LCAT LDLR
4 liver/biliary system MP:0005370 9.86 LDLR LPL SCARB1 ABCA1 APOA1 APOB
5 muscle MP:0005369 9.63 ABCA1 APOB APOE LDLR LPL SCARB1
6 pigmentation MP:0001186 9.26 ABCA1 APOB APOE LDLR
7 vision/eye MP:0005391 9.1 ABCA1 APOB APOE LCAT LDLR PLTP

Drugs & Therapeutics for Hyperalphalipoproteinemia 1

Drugs for Hyperalphalipoproteinemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
2 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relationship Between CETP Deficiency and Atherosclerosis in Patients With Hyperalphalipoproteinemia Unknown status NCT01916512
2 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 Not Applicable 3H-cholesterol bound to albumin

Search NIH Clinical Center for Hyperalphalipoproteinemia 1

Genetic Tests for Hyperalphalipoproteinemia 1

Genetic tests related to Hyperalphalipoproteinemia 1:

# Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia 1 29 CETP

Anatomical Context for Hyperalphalipoproteinemia 1

MalaCards organs/tissues related to Hyperalphalipoproteinemia 1:

41
Heart

Publications for Hyperalphalipoproteinemia 1

Articles related to Hyperalphalipoproteinemia 1:

(show all 19)
# Title Authors Year
1
Defective triglyceride biosynthesis in CETP-deficient SW872 cells. ( 26203075 )
2015
2
eNOS activation by HDL is impaired in genetic CETP deficiency. ( 24830642 )
2014
3
High-density lipoprotein (HDL) particle subpopulations in heterozygous cholesteryl ester transfer protein (CETP) deficiency: maintenance of antioxidative activity. ( 23189141 )
2012
4
Lipid and apoprotein composition of HDL in partial or complete CETP deficiency. ( 22339301 )
2012
5
CETP deficiency due to a novel mutation in the CETP gene promoter and its effect on cholesterol efflux and selective uptake into hepatocytes. ( 21354572 )
2011
6
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred. ( 19200546 )
2009
7
Cholesterol efflux from J774 macrophages and Fu5AH hepatoma cells to serum is preserved in CETP-deficient patients. ( 19135042 )
2009
8
Decreased post-prandial triglyceride response and diminished remnant lipoprotein formation in cholesteryl ester transfer protein (CETP) deficiency. ( 17399717 )
2008
9
[CETP deficiency]. ( 17824055 )
2007
10
HDL from CETP-deficient subjects shows enhanced ability to promote cholesterol efflux from macrophages in an apoE- and ABCG1-dependent pathway. ( 16670775 )
2006
11
Is cholesteryl ester transfer protein (CETP) deficiency atherogenic in familial hypercholesterolemia. ( 9678678 )
1998
12
Human plasma CETP deficiency: identification of a novel mutation in exon 9 of the CETP gene in a Caucasian subject from North America. ( 9508004 )
1998
13
Cholesteryl ester transfer protein activity enhances plasma cholesteryl ester formation. Studies in CETP transgenic mice and human genetic CETP deficiency. ( 9194753 )
1997
14
[Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]. ( 8847813 )
1996
15
Molecular genetics of cholesterol transport and cholesterol reverse transport disorders (familial hypercholesterolemia and CETP deficiency) and coronary heart disease. ( 7695176 )
1995
16
[Molecular genetics of cholesterol transport and cholesterol reverse transport disorders (familial hypercholesterolemia and CETP deficiency), and coronary heart disease]. ( 7739114 )
1995
17
[CETP deficiency]. ( 7853713 )
1994
18
Large and cholesteryl ester-rich high-density lipoproteins in cholesteryl ester transfer protein (CETP) deficiency can not protect macrophages from cholesterol accumulation induced by acetylated low-density lipoproteins. ( 7822240 )
1994
19
Characterization of plasma lipoproteins in patients heterozygous for human plasma cholesteryl ester transfer protein (CETP) deficiency: plasma CETP regulates high-density lipoprotein concentration and composition. ( 1870431 )
1991

Variations for Hyperalphalipoproteinemia 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia 1:

75
# 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 1:

6
(show top 50) (show all 68)
# 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
3 CETP NM_000078.2(CETP): c.534G> A (p.Gly178=) single nucleotide variant Likely benign rs34611098 GRCh37 Chromosome 16, 57004951: 57004951
4 CETP NM_000078.2(CETP): c.534G> A (p.Gly178=) single nucleotide variant Likely benign rs34611098 GRCh38 Chromosome 16, 56971039: 56971039
5 CETP NM_000078.2(CETP): c.658+8C> T single nucleotide variant Benign rs1532625 GRCh37 Chromosome 16, 57005301: 57005301
6 CETP NM_000078.2(CETP): c.658+8C> T single nucleotide variant Benign rs1532625 GRCh38 Chromosome 16, 56971389: 56971389
7 CETP NM_000078.2(CETP): c.991G> A (p.Gly331Ser) single nucleotide variant Likely benign rs5881 GRCh38 Chromosome 16, 56978100: 56978100
8 CETP NM_000078.2(CETP): c.991G> A (p.Gly331Ser) single nucleotide variant Likely benign rs5881 GRCh37 Chromosome 16, 57012012: 57012012
9 CETP NM_000078.2(CETP): c.1377C> T (p.Asp459=) single nucleotide variant Uncertain significance rs144375086 GRCh38 Chromosome 16, 56983381: 56983381
10 CETP NM_000078.2(CETP): c.1377C> T (p.Asp459=) single nucleotide variant Uncertain significance rs144375086 GRCh37 Chromosome 16, 57017293: 57017293
11 CETP NM_000078.2(CETP): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely benign rs577301331 GRCh38 Chromosome 16, 56983406: 56983406
12 CETP NM_000078.2(CETP): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely benign rs577301331 GRCh37 Chromosome 16, 57017318: 57017318
13 CETP NM_000078.2(CETP): c.1403G> A (p.Arg468Gln) single nucleotide variant Benign rs1800777 GRCh38 Chromosome 16, 56983407: 56983407
14 CETP NM_000078.2(CETP): c.1403G> A (p.Arg468Gln) single nucleotide variant Benign rs1800777 GRCh37 Chromosome 16, 57017319: 57017319
15 CETP NM_000078.2(CETP): c.*84G> A single nucleotide variant Benign rs1801706 GRCh38 Chromosome 16, 56983750: 56983750
16 CETP NM_000078.2(CETP): c.*84G> A single nucleotide variant Benign rs1801706 GRCh37 Chromosome 16, 57017662: 57017662
17 CETP NM_000078.2(CETP): c.466G> A (p.Asp156Asn) single nucleotide variant Likely benign rs201778606 GRCh37 Chromosome 16, 57003852: 57003852
18 CETP NM_000078.2(CETP): c.466G> A (p.Asp156Asn) single nucleotide variant Likely benign rs201778606 GRCh38 Chromosome 16, 56969940: 56969940
19 CETP NM_000078.2(CETP): c.1046C> A (p.Ser349Tyr) single nucleotide variant Likely benign rs752298084 GRCh38 Chromosome 16, 56978155: 56978155
20 CETP NM_000078.2(CETP): c.1046C> A (p.Ser349Tyr) single nucleotide variant Likely benign rs752298084 GRCh37 Chromosome 16, 57012067: 57012067
21 CETP NM_000078.2(CETP): c.1168G> C (p.Ala390Pro) single nucleotide variant Benign rs5880 GRCh38 Chromosome 16, 56981179: 56981179
22 CETP NM_000078.2(CETP): c.1168G> C (p.Ala390Pro) single nucleotide variant Benign rs5880 GRCh37 Chromosome 16, 57015091: 57015091
23 CETP NM_000078.2(CETP): c.1215-14C> T single nucleotide variant Benign rs1800774 GRCh38 Chromosome 16, 56981633: 56981633
24 CETP NM_000078.2(CETP): c.1215-14C> T single nucleotide variant Benign rs1800774 GRCh37 Chromosome 16, 57015545: 57015545
25 CETP NM_000078.2(CETP): c.66C> A (p.Thr22=) single nucleotide variant Likely benign rs5884 GRCh38 Chromosome 16, 56962045: 56962045
26 CETP NM_000078.2(CETP): c.66C> A (p.Thr22=) single nucleotide variant Likely benign rs5884 GRCh37 Chromosome 16, 56995957: 56995957
27 CETP NM_000078.2(CETP): c.92G> A (p.Arg31His) single nucleotide variant Uncertain significance rs147758502 GRCh38 Chromosome 16, 56962071: 56962071
28 CETP NM_000078.2(CETP): c.92G> A (p.Arg31His) single nucleotide variant Uncertain significance rs147758502 GRCh37 Chromosome 16, 56995983: 56995983
29 CETP NM_000078.2(CETP): c.214G> C (p.Val72Leu) single nucleotide variant Uncertain significance rs767785661 GRCh38 Chromosome 16, 56963105: 56963105
30 CETP NM_000078.2(CETP): c.214G> C (p.Val72Leu) single nucleotide variant Uncertain significance rs767785661 GRCh37 Chromosome 16, 56997017: 56997017
31 CETP NM_000078.2(CETP): c.239A> G (p.Gln80Arg) single nucleotide variant Uncertain significance rs371180917 GRCh38 Chromosome 16, 56969391: 56969391
32 CETP NM_000078.2(CETP): c.239A> G (p.Gln80Arg) single nucleotide variant Uncertain significance rs371180917 GRCh37 Chromosome 16, 57003303: 57003303
33 CETP NM_000078.2(CETP): c.312G> A (p.Gln104=) single nucleotide variant Uncertain significance rs147740993 GRCh38 Chromosome 16, 56969464: 56969464
34 CETP NM_000078.2(CETP): c.312G> A (p.Gln104=) single nucleotide variant Uncertain significance rs147740993 GRCh37 Chromosome 16, 57003376: 57003376
35 CETP NM_000078.2(CETP): c.316G> A (p.Val106Met) single nucleotide variant Likely benign rs371258270 GRCh37 Chromosome 16, 57003380: 57003380
36 CETP NM_000078.2(CETP): c.316G> A (p.Val106Met) single nucleotide variant Likely benign rs371258270 GRCh38 Chromosome 16, 56969468: 56969468
37 CETP NM_000078.2(CETP): c.439+11A> C single nucleotide variant Likely benign rs200855412 GRCh37 Chromosome 16, 57003604: 57003604
38 CETP NM_000078.2(CETP): c.439+11A> C single nucleotide variant Likely benign rs200855412 GRCh38 Chromosome 16, 56969692: 56969692
39 CETP NM_000078.2(CETP): c.663C> A (p.Ser221Arg) single nucleotide variant Likely benign rs201438792 GRCh37 Chromosome 16, 57005908: 57005908
40 CETP NM_000078.2(CETP): c.663C> A (p.Ser221Arg) single nucleotide variant Likely benign rs201438792 GRCh38 Chromosome 16, 56971996: 56971996
41 CETP NM_000078.2(CETP): c.804G> T (p.Ser268=) single nucleotide variant Likely benign rs28381707 GRCh37 Chromosome 16, 57007296: 57007296
42 CETP NM_000078.2(CETP): c.804G> T (p.Ser268=) single nucleotide variant Likely benign rs28381707 GRCh38 Chromosome 16, 56973384: 56973384
43 CETP NM_000078.2(CETP): c.1161C> T (p.Thr387=) single nucleotide variant Likely benign rs7192120 GRCh38 Chromosome 16, 56981172: 56981172
44 CETP NM_000078.2(CETP): c.1161C> T (p.Thr387=) single nucleotide variant Likely benign rs7192120 GRCh37 Chromosome 16, 57015084: 57015084
45 CETP NM_000078.2(CETP): c.44C> G (p.Ala15Gly) single nucleotide variant Benign rs34065661 GRCh38 Chromosome 16, 56962023: 56962023
46 CETP NM_000078.2(CETP): c.44C> G (p.Ala15Gly) single nucleotide variant Benign rs34065661 GRCh37 Chromosome 16, 56995935: 56995935
47 CETP NM_000078.2(CETP): c.460C> T (p.Arg154Trp) single nucleotide variant Likely benign rs34716057 GRCh37 Chromosome 16, 57003846: 57003846
48 CETP NM_000078.2(CETP): c.460C> T (p.Arg154Trp) single nucleotide variant Likely benign rs34716057 GRCh38 Chromosome 16, 56969934: 56969934
49 CETP NM_000078.2(CETP): c.861C> T (p.Phe287=) single nucleotide variant Benign rs5883 GRCh38 Chromosome 16, 56973441: 56973441
50 CETP NM_000078.2(CETP): c.861C> T (p.Phe287=) single nucleotide variant Benign rs5883 GRCh37 Chromosome 16, 57007353: 57007353

Expression for Hyperalphalipoproteinemia 1

Search GEO for disease gene expression data for Hyperalphalipoproteinemia 1.

Pathways for Hyperalphalipoproteinemia 1

Pathways related to Hyperalphalipoproteinemia 1 according to KEGG:

37
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320

Pathways related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ABCA1 APOA1 APOA2 APOB APOC3 APOE
2
Show member pathways
12.52 APOA1 APOA2 APOB APOC3 APOE LDLR
3
Show member pathways
12.3 ABCA1 APOA1 APOA2 APOB APOC3 APOE
4
Show member pathways
12.21 ABCA1 APOA1 APOB APOE LDLR SCARB1
5
Show member pathways
12.03 APOA1 APOA2 APOB APOC3 APOE LDLR
6
Show member pathways
11.81 APOA1 APOB APOE SCARB1
7 11.58 APOA1 APOA2 APOC3 LPL PLTP
8 11.56 LDLR LPL SCARB1
9
Show member pathways
11.51 ABCA1 APOA1 APOA2 APOB APOC3 APOE
10
Show member pathways
11.4 ABCA1 APOA1 APOB SCARB1
11 11.15 APOA1 APOA2 APOC3 PLTP
12 11.07 APOA1 APOB SCARB1
13 11.06 APOE LDLR
14 10.93 ABCA1 CETP
15 10.93 ABCA1 APOA1 APOA2
16 10.82 ABCA1 LDLR

GO Terms for Hyperalphalipoproteinemia 1

Cellular components related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.96 ABCA1 APOA1 LDLR LPL SCARB1
2 endoplasmic reticulum lumen GO:0005788 9.89 APOA1 APOA2 APOB APOE LIPC
3 early endosome GO:0005769 9.88 APOA1 APOA2 APOB APOC3 APOE LDLR
4 extracellular matrix GO:0031012 9.85 APOA1 APOC3 APOE LPL
5 blood microparticle GO:0072562 9.74 APOA1 APOA2 APOE
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
7 low-density lipoprotein particle GO:0034362 9.67 APOA1 APOB APOE LDLR
8 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
9 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOA2 APOB APOC3 APOE LPL
10 spherical high-density lipoprotein particle GO:0034366 9.61 APOA1 APOA2 APOC3
11 intermediate-density lipoprotein particle GO:0034363 9.56 APOA1 APOB APOC3 APOE
12 high-density lipoprotein particle GO:0034364 9.56 ABCA1 APOA1 APOA2 APOE CETP LCAT
13 discoidal high-density lipoprotein particle GO:0034365 9.52 APOA1 APOE
14 chylomicron GO:0042627 9.1 APOA1 APOA2 APOB APOC3 APOE LPL
15 extracellular exosome GO:0070062 10.19 APOA1 APOA2 APOB APOC3 APOE CETP
16 extracellular region GO:0005576 10.16 APOA1 APOA2 APOB APOC3 APOE CETP
17 extracellular space GO:0005615 10.06 APOA1 APOA2 APOB APOC3 APOE CETP

Biological processes related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.97 APOB APOC3 LIPC LPL
2 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LIPC
3 phospholipid efflux GO:0033700 9.97 ABCA1 APOA1 APOA2 APOC3 APOE
4 chylomicron assembly GO:0034378 9.96 APOA1 APOA2 APOB APOC3 APOE
5 chylomicron remnant clearance GO:0034382 9.95 APOB APOC3 APOE LDLR LIPC
6 high-density lipoprotein particle assembly GO:0034380 9.92 ABCA1 APOA1 APOA2 APOE
7 high-density lipoprotein particle clearance GO:0034384 9.92 APOA1 APOA2 APOE SCARB1
8 lipoprotein biosynthetic process GO:0042158 9.92 ABCA1 APOA1 APOB APOE LCAT
9 regulation of Cdc42 protein signal transduction GO:0032489 9.91 ABCA1 APOA1 APOC3 APOE
10 regulation of lipid metabolic process GO:0019216 9.89 ABCA1 APOA1 APOA2
11 phospholipid metabolic process GO:0006644 9.88 APOA1 LCAT LPL
12 cholesterol efflux GO:0033344 9.87 ABCA1 APOA1 APOA2 APOB APOC3 APOE
13 phosphatidylcholine biosynthetic process GO:0006656 9.86 APOA1 APOA2 LCAT
14 low-density lipoprotein particle clearance GO:0034383 9.84 APOB LDLR SCARB1
15 positive regulation of cholesterol efflux GO:0010875 9.84 ABCA1 APOE PLTP
16 phosphatidylcholine metabolic process GO:0046470 9.83 APOA1 CETP LCAT
17 positive regulation of cholesterol esterification GO:0010873 9.83 APOA1 APOA2 APOE
18 phospholipid homeostasis GO:0055091 9.82 ABCA1 APOA1 CETP
19 positive regulation of cholesterol storage GO:0010886 9.82 APOB LPL SCARB1
20 cholesterol import GO:0070508 9.81 APOA1 LDLR SCARB1
21 lipoprotein catabolic process GO:0042159 9.81 APOB APOE LDLR
22 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.8 APOA1 APOA2 APOC3
23 triglyceride homeostasis GO:0070328 9.8 APOA1 APOC3 APOE CETP LIPC LPL
24 long-term memory GO:0007616 9.74 APOE LDLR
25 positive regulation of endocytosis GO:0045807 9.74 APOE LDLR
26 artery morphogenesis GO:0048844 9.74 APOB APOE
27 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 APOE SCARB1
28 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.74 ABCA1 LDLR
29 negative regulation of lipid catabolic process GO:0050995 9.74 APOA2 APOC3
30 endothelial cell proliferation GO:0001935 9.74 APOA1 SCARB1
31 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
32 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOA1 APOE
33 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
34 regulation of protein metabolic process GO:0051246 9.73 APOE LDLR
35 regulation of cholesterol metabolic process GO:0090181 9.73 APOE LDLR
36 cholesterol catabolic process GO:0006707 9.72 APOE SCARB1
37 positive regulation of triglyceride biosynthetic process GO:0010867 9.72 LDLR SCARB1
38 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
39 blood vessel endothelial cell migration GO:0043534 9.71 APOA1 SCARB1
40 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
41 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
42 regulation of cholesterol transport GO:0032374 9.71 APOA1 APOE
43 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
44 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
45 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
46 lipoprotein metabolic process GO:0042157 9.7 ABCA1 APOA1 APOA2 APOB APOC3 APOE
47 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
48 negative regulation of lipase activity GO:0060192 9.69 APOA1 APOA2
49 protein oxidation GO:0018158 9.69 APOA1 APOA2
50 negative regulation of cholesterol import GO:0060621 9.68 APOA2 APOC3

Molecular functions related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.87 APOB APOE LIPC LPL
2 lipid binding GO:0008289 9.87 APOA1 APOA2 APOB APOC3 APOE CETP
3 amyloid-beta binding GO:0001540 9.84 APOA1 APOE LDLR SCARB1
4 phosphatidylcholine binding GO:0031210 9.76 APOA1 APOA2 CETP PLTP
5 phospholipid binding GO:0005543 9.73 ABCA1 APOA1 APOA2 APOB APOC3 APOE
6 low-density lipoprotein particle binding GO:0030169 9.72 LDLR LIPC SCARB1
7 phospholipid transporter activity GO:0005548 9.71 ABCA1 APOA1 CETP PLTP
8 high-density lipoprotein particle binding GO:0008035 9.7 APOA1 APOA2 SCARB1
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.69 APOA1 APOA2 APOE
10 lipase inhibitor activity GO:0055102 9.67 APOA1 APOA2 APOC3
11 apolipoprotein binding GO:0034185 9.67 ABCA1 LIPC LPL SCARB1
12 apolipoprotein A-I binding GO:0034186 9.65 ABCA1 LCAT SCARB1
13 cholesterol binding GO:0015485 9.63 ABCA1 APOA1 APOA2 APOC3 APOE CETP
14 triglyceride lipase activity GO:0004806 9.61 LIPC LPL
15 high-density lipoprotein particle receptor binding GO:0070653 9.61 APOA1 APOA2 APOC3
16 low-density lipoprotein particle receptor binding GO:0050750 9.6 APOB APOE
17 phospholipase activity GO:0004620 9.59 LIPC LPL
18 lipoprotein particle binding GO:0071813 9.58 APOA1 APOE
19 apolipoprotein receptor binding GO:0034190 9.58 APOA1 APOA2
20 triglyceride binding GO:0017129 9.56 CETP LPL
21 lipid transporter activity GO:0005319 9.43 APOA1 APOA2 APOB APOE CETP PLTP
22 cholesterol transporter activity GO:0017127 9.1 ABCA1 APOA1 APOA2 APOB APOE CETP

Sources for Hyperalphalipoproteinemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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