HALP1
MCID: HYP732
MIFTS: 52

Hyperalphalipoproteinemia 1 (HALP1)

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

Aliases & Classifications for Hyperalphalipoproteinemia 1

MalaCards integrated aliases for Hyperalphalipoproteinemia 1:

Name: Hyperalphalipoproteinemia 1 57 12 72 29 6 15 70
Hyperalphalipoproteinemia 57 58 36 29 13 54 39
Cholesterol-Ester Transfer Protein Deficiency 12 58 15
Cholesteryl Ester Transfer Protein Deficiency 72 44 70
Familial Hyperalphalipoproteinemia 12 58 70
Cetp Deficiency 57 72 54
Halp1 57 12 72
Cept Deficiency 12 58
Cholesterol Ester Transfer Protein Deficiency 57

Characteristics:

Orphanet epidemiological data:

58
cholesterol-ester transfer protein deficiency
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
hyperalphalipoproteinemia 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111368 DOID:0111369
OMIM® 57 143470
KEGG 36 H01199
NCIt 50 C128806
SNOMED-CT 67 238080004
ICD10 via Orphanet 33 E78.4
UMLS via Orphanet 71 C0342883
UMLS 70 C0342883 C3149462 C3875011

Summaries for Hyperalphalipoproteinemia 1

KEGG : 36 Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations is associated with an increased coronary artery disease (CAD) risk.

MalaCards based summary : Hyperalphalipoproteinemia 1, also known as hyperalphalipoproteinemia, is related to apolipoprotein c-iii deficiency and hypoalphalipoproteinemia. 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. Affiliated tissues include heart and adipocyte, and related phenotypes are hyperlipidemia and hypercholesterolemia

Disease Ontology : 12 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has material basis in heterozygous mutation in CETP on chromosome 16q13.

UniProtKB/Swiss-Prot : 72 Hyperalphalipoproteinemia 1: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.

More information 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 80)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-iii deficiency 32.3 LPL APOC3
2 hypoalphalipoproteinemia 30.1 LIPC LCAT APOA2 APOA1
3 coronary stenosis 29.9 SCARB1 LPL CETP APOB APOA1
4 hypobetalipoproteinemia, familial, 1 29.7 LCAT APOC3 APOB APOA1
5 xanthomatosis 29.6 LPL LDLR APOB
6 hypertriglyceridemia, familial 29.5 LPL LIPC CETP APOC3 APOB APOA2
7 huntington disease-like 1 29.3 SCARB1 LDLR LCAT CETP APOB APOA2
8 vascular disease 29.3 LPL LIPC LCAT CETP APOC3 APOB
9 hypercholesterolemia, familial, 1 29.0 LPL LIPC LDLR LCAT CETP APOB
10 myocardial infarction 29.0 SCARB1 LPL LIPC LCAT CETP APOC3
11 coronary heart disease 1 28.8 LPL LIPC LDLR LCAT CETP APOC3
12 familial hypercholesterolemia 28.6 SCARB1 LPL LIPC LDLR LCAT CETP
13 hypolipoproteinemia 28.5 SCARB1 PLTP LPL LCAT CETP APOC3
14 atherosclerosis susceptibility 28.3 SCARB1 PLTP LPL LIPC LCAT CETP
15 hyperlipidemia, familial combined, 3 28.2 PLTP LPL LIPC LDLR LCAT CETP
16 lipoprotein quantitative trait locus 28.2 SCARB1 PLTP LPL LIPC LDLR LCAT
17 cardiovascular system disease 28.2 SCARB1 PLTP LPL LIPC LDLR LCAT
18 lipid metabolism disorder 28.0 SCARB1 PLTP LPL LIPC LDLR LCAT
19 apo a-i deficiency 10.2 LCAT APOA1
20 silent myocardial infarction 10.2 APOB APOA1
21 amyloidosis aa 10.2 LCAT APOA1
22 schistosoma mansoni infection, susceptibility/ 10.2
23 intestinal schistosomiasis 10.2
24 schistosomiasis 10.2
25 argyria 10.2
26 hereditary amyloidosis 10.2 APOA2 APOA1
27 huntington disease-like 3 10.1
28 huntington disease-like 2 10.1
29 familial lcat deficiency 10.1 LCAT APOA2 APOA1
30 amyloidosis, familial visceral 10.1 APOC3 APOA2 APOA1
31 hypercholesterolemia, familial, 2 10.1 LDLR APOB
32 hypobetalipoproteinemia, familial, 2 10.1 PLTP APOC3 APOB
33 fish-eye disease 10.1 LCAT APOA2 APOA1
34 leukodystrophy, hypomyelinating, 3 10.1 APOB APOA2 APOA1
35 parametritis 10.1 APOB APOA1
36 corneal degeneration 10.1 APOB APOA1
37 carotid artery disease 10.1 APOB APOA2 APOA1
38 fetal macrosomia 10.1 LCAT APOB APOA1
39 gallbladder disease 10.0 CETP APOB APOA1
40 defective apolipoprotein b-100 10.0 LDLR LCAT APOB
41 arteries, anomalies of 10.0
42 rapidly involuting congenital hemangioma 10.0
43 hepatic lipase deficiency 10.0 LPL LIPC APOA1
44 lipase deficiency, combined 10.0 LPL LIPC
45 cerebral atherosclerosis 10.0 APOB APOA1
46 uremia 9.9 LPL LCAT APOC3
47 platelet glycoprotein iv deficiency 9.9 SCARB1 LPL APOB
48 sitosterolemia 9.9 SCARB1 LCAT APOB APOA1
49 amyloidosis, hereditary, transthyretin-related 9.9 APOA2 APOA1
50 abdominal obesity-metabolic syndrome 1 9.9 LPL APOB APOA1

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



Diseases related to Hyperalphalipoproteinemia 1

Symptoms & Phenotypes for Hyperalphalipoproteinemia 1

Human phenotypes related to Hyperalphalipoproteinemia 1:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia 58 31 obligate (100%) Obligate (100%) HP:0003077
2 hypercholesterolemia 58 31 obligate (100%) Obligate (100%) HP:0003124
3 increased hdl cholesterol concentration 58 31 obligate (100%) Obligate (100%) HP:0012184
4 hypotriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0012153
5 hyperlipoproteinemia 58 Obligate (100%)
6 precocious atherosclerosis 58 Excluded (0%)
7 tendon xanthomatosis 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 8.96 LDLR LIPC
2 Decreased LDL uptake GR00340-A-1 8.62 LDLR LPL

MGI Mouse Phenotypes related to Hyperalphalipoproteinemia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 APOA1 APOA2 APOB CYBC1 LCAT LDLR

Drugs & Therapeutics for Hyperalphalipoproteinemia 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation of Relationship Between Cholesteryl Ester Transfer Protein Deficiency and Carotid/Coronary Atherosclerosis in Patients With Hyperalphalipoproteinemia Unknown status NCT01916512

Search NIH Clinical Center for Hyperalphalipoproteinemia 1

Cochrane evidence based reviews: cholesteryl ester transfer protein deficiency

Genetic Tests for Hyperalphalipoproteinemia 1

Genetic tests related to Hyperalphalipoproteinemia 1:

# Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia 1 29 CETP
2 Hyperalphalipoproteinemia 29

Anatomical Context for Hyperalphalipoproteinemia 1

MalaCards organs/tissues related to Hyperalphalipoproteinemia 1:

40
Heart, Adipocyte

Publications for Hyperalphalipoproteinemia 1

Articles related to Hyperalphalipoproteinemia 1:

(show top 50) (show all 253)
# Title Authors PMID Year
1
Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. 6 57 54
2215607 1990
2
A pedigree of homozygous familial hyperalphalipoproteinemia. 57 6 61
6738363 1984
3
Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. 57 6
17952847 2007
4
Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects. 61 54 6
7605382 1995
5
Cholesteryl ester transfer protein gene: two common mutations and their effect on plasma high-density lipoprotein cholesterol content. 6 54 61
7989465 1994
6
Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels. 54 57
8675707 1996
7
Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. 54 6
7962532 1994
8
A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. 6 54
8408659 1993
9
Total deficiency of plasma cholesteryl ester transfer protein in subjects homozygous and heterozygous for the intron 14 splicing defect. 54 6
2390095 1990
10
Ath-1, a gene determining atherosclerosis susceptibility and high density lipoprotein levels in mice. 61 57
3473481 1987
11
Rate of cholesteryl ester transfer between high and low density lipoproteins in human serum and a case with decreased transfer rate in association with hyperalphalipoproteinemia. 57 61
3867663 1985
12
Neonatal familial hyperalphalipoproteinemia. 61 57
191726 1977
13
Familial hyperalphalipoproteinemia. 61 57
168823 1975
14
Biological, clinical and population relevance of 95 loci for blood lipids. 57
20686565 2010
15
Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia. 6
20068209 2010
16
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 57
19060911 2009
17
Polymorphisms associated with cholesterol and risk of cardiovascular events. 57
18354102 2008
18
A genotype of exceptional longevity is associated with preservation of cognitive function. 6
17190939 2006
19
Functional interaction between -629C/A, -971G/A and -1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study. 57
16049032 2005
20
TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia. 57
15856070 2005
21
The effect of cholesteryl ester transfer protein -629C->A promoter polymorphism on high-density lipoprotein cholesterol is dependent on serum triglycerides. 57
15840744 2005
22
Effects of an inhibitor of cholesteryl ester transfer protein on HDL cholesterol. 57
15071125 2004
23
Unique lipoprotein phenotype and genotype associated with exceptional longevity. 6
14559957 2003
24
Haplotype analysis of the CETP gene: not TaqIB, but the closely linked -629C-->A polymorphism and a novel promoter variant are independently associated with CETP concentration. 57
12499392 2003
25
Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees. 57
12080388 2002
26
Perspectives: Benefits of reducing low-density lipoprotein cholesterol concentrations to <100 mg/dL. 57
11834931 2000
27
Sex-dependent association of a genetic polymorphism of cholesteryl ester transfer protein with high-density lipoprotein cholesterol and macrovascular pathology in type II diabetic patients. 57
10523010 1999
28
Genetic polymorphisms and disease. 57
9606122 1998
29
The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. 57
9420339 1998
30
Cholesteryl ester transfer protein gene polymorphism is a determinant of HDL cholesterol and of the lipoprotein response to a lipid-lowering diet in type 1 diabetes. 57
9392500 1997
31
Heterogeneity at the CETP gene locus. Influence on plasma CETP concentrations and HDL cholesterol levels. 57
9102177 1997
32
Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein gene on plasma high density lipoprotein and the risk of myocardial infarction. 57
7657837 1995
33
Relation of polymorphisms in the cholesteryl ester transfer protein gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers. 57
7857368 1994
34
Regulation of plasma HDL cholesterol and subfraction distribution by genetic and environmental factors. Associations between the TaqI B RFLP in the CETP gene and smoking and obesity. 57
7907227 1994
35
Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. 6
2586614 1989
36
DNA polymorphism at the locus for human cholesteryl ester transfer protein (CETP) is associated with high density lipoprotein cholesterol and apolipoprotein levels. 57
2564326 1989
37
Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia. 57
3937535 1985
38
Familial hyper-alpha-lipoproteinemia in 26 kindreds. 57
7389181 1980
39
Familial hyper-alpha-lipoproteinemia: studies in eighteen kindreds. 57
171539 1975
40
Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. 61 54
19428034 2009
41
Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life. 54 61
19463799 2009
42
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. 54 61
18926541 2009
43
Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia. 61 54
19158204 2009
44
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. 54 61
19013296 2008
45
Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. 61 54
18160998 2008
46
Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. 61 54
17192423 2007
47
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. 61 54
16855848 2006
48
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia. 54 61
16650090 2006
49
Inherited disorders of HDL metabolism and atherosclerosis. 54 61
15767853 2005
50
Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese. 61 54
15256762 2004

Variations for Hyperalphalipoproteinemia 1

ClinVar genetic disease variations for Hyperalphalipoproteinemia 1:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CETP NM_000078.3(CETP):c.1264G>A (p.Val422Ile) SNV association 17525 rs5882 GRCh37: 16:57016092-57016092
GRCh38: 16:56982180-56982180
2 CETP NG_008952.1:g.529C= SNV association 17526 rs183130 GRCh37: 16:56991363-56991363
GRCh38: 16:56957451-56957451
3 CETP NM_000078.3(CETP):c.1321+1G>A SNV Pathogenic 17524 rs5742907 GRCh37: 16:57016150-57016150
GRCh38: 16:56982238-56982238
4 CETP NM_000078.3(CETP):c.791del (p.Leu264fs) Deletion Pathogenic 1033627 GRCh37: 16:57007283-57007283
GRCh38: 16:56973371-56973371
5 CETP NM_000078.3(CETP):c.1321+2dup Duplication Pathogenic 17528 rs1567476573 GRCh37: 16:57016150-57016151
GRCh38: 16:56982238-56982239
6 CETP NM_000078.3(CETP):c.667del (p.Leu223fs) Deletion Uncertain significance 632260 rs759929211 GRCh37: 16:57005911-57005911
GRCh38: 16:56971999-56971999
7 CETP NM_000078.3(CETP):c.1373del (p.Phe458fs) Deletion Uncertain significance 632261 rs1567477038 GRCh37: 16:57017288-57017288
GRCh38: 16:56983376-56983376
8 CETP NM_000078.3(CETP):c.214G>C (p.Val72Leu) SNV Uncertain significance 319973 rs767785661 GRCh37: 16:56997017-56997017
GRCh38: 16:56963105-56963105
9 CETP NM_000078.3(CETP):c.239A>G (p.Gln80Arg) SNV Uncertain significance 319974 rs371180917 GRCh37: 16:57003303-57003303
GRCh38: 16:56969391-56969391
10 CETP NM_000078.3(CETP):c.92G>A (p.Arg31His) SNV Uncertain significance 319972 rs147758502 GRCh37: 16:56995983-56995983
GRCh38: 16:56962071-56962071
11 CETP NM_000078.3(CETP):c.311A>G (p.Gln104Arg) SNV Uncertain significance 885590 GRCh37: 16:57003375-57003375
GRCh38: 16:56969463-56969463
12 CETP NM_000078.3(CETP):c.1408-7C>T SNV Uncertain significance 886668 GRCh37: 16:57017497-57017497
GRCh38: 16:56983585-56983585
13 CETP NM_000078.3(CETP):c.1402C>T (p.Arg468Ter) SNV Uncertain significance 319998 rs577301331 GRCh37: 16:57017318-57017318
GRCh38: 16:56983406-56983406
14 CETP NM_000078.3(CETP):c.1327G>A (p.Glu443Lys) SNV Uncertain significance 885656 GRCh37: 16:57017243-57017243
GRCh38: 16:56983331-56983331
15 CETP NM_000078.3(CETP):c.1375G>C (p.Asp459His) SNV Uncertain significance 885657 GRCh37: 16:57017291-57017291
GRCh38: 16:56983379-56983379
16 CETP NM_000078.3(CETP):c.668T>G (p.Leu223Arg) SNV Uncertain significance 886619 GRCh37: 16:57005913-57005913
GRCh38: 16:56972001-56972001
17 CETP NM_000078.3(CETP):c.1101T>C (p.Phe367=) SNV Uncertain significance 887869 GRCh37: 16:57012122-57012122
GRCh38: 16:56978210-56978210
18 CETP NM_000078.3(CETP):c.1113C>A (p.Asp371Glu) SNV Likely benign 887870 GRCh37: 16:57012134-57012134
GRCh38: 16:56978222-56978222
19 CETP NM_000078.3(CETP):c.1253G>C (p.Ser418Thr) SNV Likely benign 884718 GRCh37: 16:57016081-57016081
GRCh38: 16:56982169-56982169
20 CETP NM_000078.3(CETP):c.818G>A (p.Gly273Glu) SNV Likely benign 886622 GRCh37: 16:57007310-57007310
GRCh38: 16:56973398-56973398
21 CETP NM_000078.3(CETP):c.1302C>A (p.Gly434=) SNV Likely benign 885655 GRCh37: 16:57016130-57016130
GRCh38: 16:56982218-56982218
22 CETP NM_000078.3(CETP):c.312G>A (p.Gln104=) SNV Likely benign 319975 rs147740993 GRCh37: 16:57003376-57003376
GRCh38: 16:56969464-56969464
23 CETP NM_000078.3(CETP):c.991G>A (p.Gly331Ser) SNV Likely benign 319986 rs5881 GRCh37: 16:57012012-57012012
GRCh38: 16:56978100-56978100
24 CETP NM_000078.3(CETP):c.466G>A (p.Asp156Asn) SNV Likely benign 319979 rs201778606 GRCh37: 16:57003852-57003852
GRCh38: 16:56969940-56969940
25 CETP NM_000078.3(CETP):c.663C>A (p.Ser221Arg) SNV Benign/Likely benign 319982 rs201438792 GRCh37: 16:57005908-57005908
GRCh38: 16:56971996-56971996
26 CETP NM_000078.3(CETP):c.1470G>A (p.Gln490=) SNV Benign 886669 GRCh37: 16:57017566-57017566
GRCh38: 16:56983654-56983654
27 CETP NM_000078.3(CETP):c.752G>T (p.Gly251Val) SNV Benign 886620 GRCh37: 16:57007244-57007244
GRCh38: 16:56973332-56973332
28 CETP NM_000078.3(CETP):c.804G>A (p.Ser268=) SNV Benign 886621 GRCh37: 16:57007296-57007296
GRCh38: 16:56973384-56973384
29 CETP NM_000078.3(CETP):c.598-13C>G SNV Benign 886618 GRCh37: 16:57005220-57005220
GRCh38: 16:56971308-56971308
30 CETP NM_000078.2(CETP):c.*184C>G SNV Benign 369116 rs289742 GRCh37: 16:57017762-57017762
GRCh38: 16:56983850-56983850
31 CETP NM_000078.3(CETP):c.534G>A (p.Gly178=) SNV Benign 319980 rs34611098 GRCh37: 16:57004951-57004951
GRCh38: 16:56971039-56971039
32 CETP NM_000078.3(CETP):c.804G>T (p.Ser268=) SNV Benign 319983 rs28381707 GRCh37: 16:57007296-57007296
GRCh38: 16:56973384-56973384
33 CETP NM_000078.3(CETP):c.1161C>T (p.Thr387=) SNV Benign 319992 rs7192120 GRCh37: 16:57015084-57015084
GRCh38: 16:56981172-56981172
34 CETP NM_000078.3(CETP):c.1146+7C>T SNV Benign 319989 rs182237338 GRCh37: 16:57012174-57012174
GRCh38: 16:56978262-56978262
35 CETP NM_000078.3(CETP):c.460C>T (p.Arg154Trp) SNV Benign 319978 rs34716057 GRCh37: 16:57003846-57003846
GRCh38: 16:56969934-56969934
36 CETP NM_000078.3(CETP):c.921C>T (p.Asp307=) SNV Benign 721350 rs28381708 GRCh37: 16:57007413-57007413
GRCh38: 16:56973501-56973501
37 CETP NM_000078.3(CETP):c.1376A>G (p.Asp459Gly) SNV Benign 17527 rs2303790 GRCh37: 16:57017292-57017292
GRCh38: 16:56983380-56983380
38 CETP NM_000078.3(CETP):c.940G>A (p.Glu314Lys) SNV Benign 319985 rs140547417 GRCh37: 16:57009022-57009022
GRCh38: 16:56975110-56975110
39 CETP NM_000078.3(CETP):c.*84G>A SNV Benign 320000 rs1801706 GRCh37: 16:57017662-57017662
GRCh38: 16:56983750-56983750
40 CETP NM_000078.3(CETP):c.1161C>G (p.Thr387=) SNV Benign 319991 rs7192120 GRCh37: 16:57015084-57015084
GRCh38: 16:56981172-56981172
41 CETP NM_000078.3(CETP):c.1046C>A (p.Ser349Tyr) SNV Benign 319988 rs752298084 GRCh37: 16:57012067-57012067
GRCh38: 16:56978155-56978155
42 CETP NM_000078.3(CETP):c.84C>T (p.Ile28=) SNV Benign 80176 rs142117489 GRCh37: 16:56995975-56995975
GRCh38: 16:56962063-56962063
43 CETP NM_000078.3(CETP):c.1299G>A (p.Val433=) SNV Benign 319996 rs5886 GRCh37: 16:57016127-57016127
GRCh38: 16:56982215-56982215
44 CETP NM_000078.3(CETP):c.1215-15G>T SNV Benign 319994 rs7196174 GRCh37: 16:57015544-57015544
GRCh38: 16:56981632-56981632
45 CETP NM_000078.3(CETP):c.439+11A>C SNV Benign 319977 rs200855412 GRCh37: 16:57003604-57003604
GRCh38: 16:56969692-56969692
46 CETP NM_000078.3(CETP):c.861C>T (p.Phe287=) SNV Benign 319984 rs5883 GRCh37: 16:57007353-57007353
GRCh38: 16:56973441-56973441
47 CETP NM_000078.3(CETP):c.1017C>T (p.Thr339=) SNV Benign 319987 rs138298866 GRCh37: 16:57012038-57012038
GRCh38: 16:56978126-56978126
48 CETP NM_000078.3(CETP):c.1153G>A (p.Val385Met) SNV Benign 319990 rs34855278 GRCh37: 16:57015076-57015076
GRCh38: 16:56981164-56981164
49 CETP NM_000078.3(CETP):c.66C>A (p.Thr22=) SNV Benign 319971 rs5884 GRCh37: 16:56995957-56995957
GRCh38: 16:56962045-56962045
50 CETP NM_000078.3(CETP):c.1264G>A (p.Val422Ile) SNV Benign 17525 rs5882 GRCh37: 16:57016092-57016092
GRCh38: 16:56982180-56982180

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

72
# 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

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:

36
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 SCARB1 PLTP LPL LIPC LDLR LCAT
2
Show member pathways
12.45 LPL LDLR APOC3 APOB APOA2 APOA1
3
Show member pathways
12.13 LPL LDLR APOC3 APOB APOA2 APOA1
4
Show member pathways
12.11 SCARB1 LDLR APOB APOA1
5
Show member pathways
11.9 SCARB1 PLTP LPL LIPC LDLR LCAT
6
Show member pathways
11.77 SCARB1 PLTP LPL LIPC LDLR LCAT
7
Show member pathways
11.72 SCARB1 APOB APOA1
8 11.64 SCARB1 LDLR ATP1B4
9 11.53 SCARB1 LPL LDLR
10 11.43 PLTP LPL APOC3 APOA2 APOA1
11
Show member pathways
11.27 SCARB1 APOB APOA1
12 10.97 PLTP APOC3 APOA2 APOA1
13 10.96 SCARB1 APOB APOA1
14 10.82 APOA2 APOA1

GO Terms for Hyperalphalipoproteinemia 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 PLTP LPL LIPC LCAT CETP APOC3
2 extracellular space GO:0005615 10.06 PLTP LPL LIPC LCAT CETP APOC3
3 early endosome GO:0005769 9.8 LDLR APOC3 APOB APOA2 APOA1
4 endoplasmic reticulum lumen GO:0005788 9.78 LIPC APOB APOA2 APOA1
5 very-low-density lipoprotein particle GO:0034361 9.55 LPL APOC3 APOB APOA2 APOA1
6 low-density lipoprotein particle GO:0034362 9.54 LDLR APOB APOA1
7 spherical high-density lipoprotein particle GO:0034366 9.5 APOC3 APOA2 APOA1
8 endocytic vesicle lumen GO:0071682 9.49 APOB APOA1
9 intermediate-density lipoprotein particle GO:0034363 9.43 APOC3 APOB APOA1
10 chylomicron GO:0042627 9.35 LPL APOC3 APOB APOA2 APOA1
11 high-density lipoprotein particle GO:0034364 9.17 PLTP LIPC LCAT CETP APOB APOA2

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.18 PLTP LPL LIPC LDLR LCAT CETP
2 steroid metabolic process GO:0008202 10.02 LDLR LCAT CETP APOB APOA1
3 cholesterol metabolic process GO:0008203 10 LIPC LDLR LCAT CETP APOB APOA2
4 retinoid metabolic process GO:0001523 9.98 LPL APOC3 APOB APOA2 APOA1
5 intermembrane lipid transfer GO:0120009 9.97 PLTP CETP APOB APOA2 APOA1
6 receptor-mediated endocytosis GO:0006898 9.96 SCARB1 LDLR APOB APOA1
7 lipid catabolic process GO:0016042 9.96 LPL LIPC APOC3 APOB
8 phospholipid transport GO:0015914 9.96 SCARB1 PLTP LDLR CETP APOA1
9 triglyceride metabolic process GO:0006641 9.92 LPL CETP APOC3 APOA2
10 lipid transport GO:0006869 9.92 SCARB1 PLTP LDLR CETP APOC3 APOB
11 triglyceride homeostasis GO:0070328 9.91 SCARB1 LPL LIPC CETP APOC3 APOA1
12 triglyceride catabolic process GO:0019433 9.9 LPL LIPC APOC3 APOB
13 cholesterol efflux GO:0033344 9.89 SCARB1 APOC3 APOB APOA2 APOA1
14 low-density lipoprotein particle remodeling GO:0034374 9.88 LIPC CETP APOB APOA2
15 lipoprotein metabolic process GO:0042157 9.88 LDLR APOC3 APOB APOA2 APOA1
16 phospholipid metabolic process GO:0006644 9.86 LPL LCAT APOA1
17 chylomicron assembly GO:0034378 9.85 APOC3 APOB APOA2 APOA1
18 high-density lipoprotein particle clearance GO:0034384 9.84 SCARB1 LDLR APOA2 APOA1
19 phosphatidylcholine biosynthetic process GO:0006656 9.83 LCAT APOA2 APOA1
20 low-density lipoprotein particle clearance GO:0034383 9.82 SCARB1 LDLR APOB
21 phosphatidylcholine metabolic process GO:0046470 9.81 LCAT CETP APOA1
22 phospholipid efflux GO:0033700 9.81 APOC3 APOA2 APOA1
23 chylomicron remnant clearance GO:0034382 9.81 LIPC LDLR APOC3 APOB
24 positive regulation of cholesterol storage GO:0010886 9.8 SCARB1 LPL APOB
25 very-low-density lipoprotein particle remodeling GO:0034372 9.8 LPL LIPC LCAT CETP APOA1
26 reverse cholesterol transport GO:0043691 9.8 SCARB1 LIPC LCAT CETP APOC3 APOA2
27 cholesterol import GO:0070508 9.79 SCARB1 LDLR APOA1
28 lipoprotein biosynthetic process GO:0042158 9.78 LCAT APOB APOA1
29 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.77 APOC3 APOA2 APOA1
30 chylomicron remodeling GO:0034371 9.77 LPL APOC3 APOB APOA2 APOA1
31 high-density lipoprotein particle remodeling GO:0034375 9.76 SCARB1 PLTP LIPC LCAT CETP APOC3
32 cellular response to fatty acid GO:0071398 9.72 LPL LDLR
33 artery morphogenesis GO:0048844 9.72 LDLR APOB
34 positive regulation of cholesterol efflux GO:0010875 9.72 PLTP APOA1
35 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 LPL APOB
36 negative regulation of lipid catabolic process GO:0050995 9.71 APOC3 APOA2
37 endothelial cell proliferation GO:0001935 9.71 SCARB1 APOA1
38 phospholipid homeostasis GO:0055091 9.71 CETP APOA1
39 positive regulation of lipid storage GO:0010884 9.71 LPL APOB
40 positive regulation of triglyceride biosynthetic process GO:0010867 9.7 SCARB1 LDLR
41 high-density lipoprotein particle assembly GO:0034380 9.7 APOA2 APOA1
42 very-low-density lipoprotein particle assembly GO:0034379 9.7 APOC3 APOB
43 blood vessel endothelial cell migration GO:0043534 9.7 SCARB1 APOA1
44 regulation of lipoprotein lipase activity GO:0051004 9.69 LPL LIPC
45 positive regulation of cholesterol esterification GO:0010873 9.69 APOA2 APOA1
46 regulation of Cdc42 protein signal transduction GO:0032489 9.68 APOC3 APOA1
47 peptidyl-methionine modification GO:0018206 9.68 APOA2 APOA1
48 negative regulation of cytokine production involved in immune response GO:0002719 9.68 APOA2 APOA1
49 lipoprotein catabolic process GO:0042159 9.68 LDLR APOB
50 protein oxidation GO:0018158 9.67 APOA2 APOA1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 SCARB1 PLTP CETP APOC3 APOA2 APOA1
2 heparin binding GO:0008201 9.8 LPL LIPC APOB
3 phospholipid binding GO:0005543 9.78 APOC3 APOB APOA2 APOA1
4 amyloid-beta binding GO:0001540 9.77 SCARB1 LDLR APOA1
5 cholesterol binding GO:0015485 9.71 CETP APOC3 APOA2 APOA1
6 lipid transporter activity GO:0005319 9.69 APOB APOA2 APOA1
7 triglyceride lipase activity GO:0004806 9.67 LPL LIPC LCAT
8 apolipoprotein binding GO:0034185 9.63 SCARB1 LPL LIPC
9 protein membrane anchor GO:0043495 9.62 SUN1 LPL
10 phosphatidylcholine binding GO:0031210 9.62 PLTP CETP APOA2 APOA1
11 lipase activity GO:0016298 9.61 LPL LIPC
12 phospholipase A1 activity GO:0008970 9.61 LPL LIPC
13 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.6 LPL LIPC
14 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.58 LPL LIPC
15 lipoprotein particle binding GO:0071813 9.58 LPL APOA1
16 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.57 APOA2 APOA1
17 apolipoprotein A-I binding GO:0034186 9.56 SCARB1 LCAT
18 lipoprotein lipase activity GO:0004465 9.55 LPL LIPC
19 triglyceride binding GO:0017129 9.54 LPL CETP
20 lipase inhibitor activity GO:0055102 9.54 APOC3 APOA2 APOA1
21 apolipoprotein receptor binding GO:0034190 9.52 APOA2 APOA1
22 high-density lipoprotein particle binding GO:0008035 9.46 SCARB1 PLTP APOA2 APOA1
23 high-density lipoprotein particle receptor binding GO:0070653 9.43 APOC3 APOA2 APOA1
24 low-density lipoprotein particle binding GO:0030169 9.26 SCARB1 PLTP LIPC LDLR
25 intermembrane cholesterol transfer activity GO:0120020 9.02 PLTP CETP APOB APOA2 APOA1

Sources for Hyperalphalipoproteinemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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