MCID: HYP804
MIFTS: 31

Hyperlipidemia, Combined, 1

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hyperlipidemia, Combined, 1

MalaCards integrated aliases for Hyperlipidemia, Combined, 1:

Name: Hyperlipidemia, Combined, 1 57 29 40 73
Hyperlipidemia, Familial Combined, Susceptibility to 57 13 6
Hyplip1 57 75
Fchl1 57 75
Hyperlipidemia, Familial Combined, 1; Fchl1 57
Familial Combined Hyperlipidemia Type 1 75
Hyperlipidemia, Familial Combined, 1 57
Hyperlipidemia, Familial Combined 57
Hyperlipidemia Familial Combined 55
Hyperlipidemia Combined 1 75

Classifications:



External Ids:

OMIM 57 602491
MedGen 42 C1865289
MeSH 44 D006950
UMLS 73 C1865289

Summaries for Hyperlipidemia, Combined, 1

UniProtKB/Swiss-Prot : 75 Hyperlipidemia combined 1: A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease.

MalaCards based summary : Hyperlipidemia, Combined, 1, also known as hyperlipidemia, familial combined, susceptibility to, is related to hyperlipoproteinemia, type v and hyperlipidemia, familial combined. An important gene associated with Hyperlipidemia, Combined, 1 is USF1 (Upstream Transcription Factor 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include heart, and related phenotype is Decreased free cholesterol.

Description from OMIM: 602491

Related Diseases for Hyperlipidemia, Combined, 1

Diseases in the Hyperlipidemia, Familial Combined family:

Hyperlipidemia, Combined, 1 Hyperlipidemia, Combined, 2

Diseases related to Hyperlipidemia, Combined, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type v 31.7 APOA5 LPL
2 hyperlipidemia, familial combined 30.8 APOA5 APOB APOC3 LPL USF1
3 hyperlipidemia, combined, 2 11.3
4 ischemic heart disease 10.1 APOB LPL
5 hypolipoproteinemia 10.1 APOB LPL
6 inherited metabolic disorder 10.0 APOB USF1
7 xanthomatosis 10.0 APOB LPL
8 abetalipoproteinemia 10.0 APOB LPL
9 tangier disease 10.0 APOB LPL
10 lipase deficiency, combined 10.0 LIPC LPL
11 hepatic lipase deficiency 9.9 LIPC LPL
12 bardet-biedl syndrome 2 9.6 APOC3 LPL
13 homozygous familial hypercholesterolemia 9.4 APOB LIPC LPL
14 uremia 9.4 APOC3 LPL
15 familial hyperlipidemia 9.4 APOB LIPC LPL
16 familial lipoprotein lipase deficiency 9.4 APOA5 LIPC LPL
17 pancreatitis 9.3 APOA5 LPL
18 lecithin:cholesterol acyltransferase deficiency 9.2 APOB APOC3 LPL
19 diabetes mellitus 8.9 APOA5 APOB LIPC
20 hyperlipoproteinemia, type iii 8.9 APOA5 APOB LIPC LPL
21 myocardial infarction 8.8 APOA5 APOB APOC3
22 heart disease 8.5 APOA5 APOB APOC3 LPL
23 hypoalphalipoproteinemia, primary 8.5 APOB APOC3 LIPC LPL
24 hyperalphalipoproteinemia 1 8.5 APOB APOC3 LIPC LPL
25 hypercholesterolemia, familial 8.5 APOB APOC3 LIPC LPL
26 diabetes mellitus, noninsulin-dependent 8.4 APOB APOC3 LIPC LPL
27 hyperlipoproteinemia, type iv 7.9 APOA5 APOB APOC3 LIPC LPL
28 hypertriglyceridemia, familial 7.9 APOA5 APOB APOC3 LIPC LPL
29 coronary heart disease 1 7.9 APOA5 APOB APOC3 LIPC LPL
30 coronary artery anomaly 7.9 APOA5 APOB APOC3 LIPC LPL
31 body mass index quantitative trait locus 11 7.9 APOA5 APOB APOC3 LIPC LPL
32 lipid metabolism disorder 7.4 APOA5 APOB APOC3 LIPC LPL USF1

Graphical network of the top 20 diseases related to Hyperlipidemia, Combined, 1:



Diseases related to Hyperlipidemia, Combined, 1

Symptoms & Phenotypes for Hyperlipidemia, Combined, 1

Clinical features from OMIM:

602491

GenomeRNAi Phenotypes related to Hyperlipidemia, Combined, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.02 APOA5 APOB APOC3 LIPC LPL

Drugs & Therapeutics for Hyperlipidemia, Combined, 1

Search Clinical Trials , NIH Clinical Center for Hyperlipidemia, Combined, 1

Genetic Tests for Hyperlipidemia, Combined, 1

Genetic tests related to Hyperlipidemia, Combined, 1:

# Genetic test Affiliating Genes
1 Hyperlipidemia, Combined, 1 29 USF1

Anatomical Context for Hyperlipidemia, Combined, 1

MalaCards organs/tissues related to Hyperlipidemia, Combined, 1:

41
Heart

Publications for Hyperlipidemia, Combined, 1

Variations for Hyperlipidemia, Combined, 1

ClinVar genetic disease variations for Hyperlipidemia, Combined, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 USF1 NM_007122.4(USF1): c.*187C> T single nucleotide variant risk factor rs3737787 GRCh37 Chromosome 1, 161009523: 161009523
2 USF1 NM_007122.4(USF1): c.*187C> T single nucleotide variant risk factor rs3737787 GRCh38 Chromosome 1, 161039733: 161039733
3 USF1 NM_007122.4(USF1): c.561-100G> A single nucleotide variant risk factor rs2073658 GRCh37 Chromosome 1, 161010762: 161010762
4 USF1 NM_007122.4(USF1): c.561-100G> A single nucleotide variant risk factor rs2073658 GRCh38 Chromosome 1, 161040972: 161040972

Expression for Hyperlipidemia, Combined, 1

Search GEO for disease gene expression data for Hyperlipidemia, Combined, 1.

Pathways for Hyperlipidemia, Combined, 1

Pathways related to Hyperlipidemia, Combined, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.19 APOB APOC3 LPL
2
Show member pathways
11.89 APOA5 APOB APOC3 LIPC LPL
3
Show member pathways
11.76 APOB APOC3 LPL
4
Show member pathways
11.3 LIPC LPL
5 11.22 LIPC LPL
6 11.19 APOA5 APOC3 LPL
7
Show member pathways
11.09 LIPC LPL
8
Show member pathways
11.09 APOA5 APOB APOC3 LIPC LPL
9 10.74 APOA5 APOC3

GO Terms for Hyperlipidemia, Combined, 1

Cellular components related to Hyperlipidemia, Combined, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 APOA5 APOB APOC3 LIPC LPL
2 extracellular space GO:0005615 9.72 APOA5 APOB APOC3 LIPC LPL
3 endoplasmic reticulum lumen GO:0005788 9.58 APOA5 APOB LIPC
4 high-density lipoprotein particle GO:0034364 9.37 APOA5 LIPC
5 low-density lipoprotein particle GO:0034362 9.26 APOA5 APOB
6 very-low-density lipoprotein particle GO:0034361 9.26 APOA5 APOB APOC3 LPL
7 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOC3
8 chylomicron GO:0042627 8.92 APOA5 APOB APOC3 LPL

Biological processes related to Hyperlipidemia, Combined, 1 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.87 APOB APOC3 LIPC LPL
2 lipid transport GO:0006869 9.75 APOA5 APOB APOC3
3 lipid catabolic process GO:0016042 9.73 APOB APOC3 LIPC LPL
4 retinoid metabolic process GO:0001523 9.69 APOB APOC3 LPL
5 triglyceride metabolic process GO:0006641 9.67 APOA5 APOC3 LPL
6 cholesterol efflux GO:0033344 9.65 APOA5 APOB APOC3
7 lipoprotein metabolic process GO:0042157 9.63 APOA5 APOB APOC3
8 cholesterol metabolic process GO:0008203 9.62 APOB LIPC
9 fatty acid biosynthetic process GO:0006633 9.62 LIPC LPL
10 cholesterol transport GO:0030301 9.61 APOB LIPC
11 high-density lipoprotein particle remodeling GO:0034375 9.61 APOC3 LIPC
12 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.6 APOB LPL
13 low-density lipoprotein particle remodeling GO:0034374 9.59 APOB LIPC
14 phospholipid efflux GO:0033700 9.58 APOA5 APOC3
15 reverse cholesterol transport GO:0043691 9.58 APOA5 APOC3 LIPC
16 chylomicron assembly GO:0034378 9.56 APOB APOC3
17 very-low-density lipoprotein particle assembly GO:0034379 9.55 APOB APOC3
18 regulation of lipoprotein lipase activity GO:0051004 9.54 LIPC LPL
19 very-low-density lipoprotein particle remodeling GO:0034372 9.54 APOA5 LIPC LPL
20 positive regulation of cholesterol storage GO:0010886 9.52 APOB LPL
21 chylomicron remodeling GO:0034371 9.5 APOB APOC3 LPL
22 triglyceride homeostasis GO:0070328 9.46 APOA5 APOC3 LIPC LPL
23 chylomicron remnant clearance GO:0034382 9.43 APOB APOC3 LIPC
24 cholesterol homeostasis GO:0042632 9.35 APOA5 APOB APOC3 LIPC LPL
25 triglyceride catabolic process GO:0019433 9.02 APOA5 APOB APOC3 LIPC LPL

Molecular functions related to Hyperlipidemia, Combined, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.63 APOA5 APOB APOC3
2 carboxylic ester hydrolase activity GO:0052689 9.49 LIPC LPL
3 cholesterol binding GO:0015485 9.48 APOA5 APOC3
4 triglyceride lipase activity GO:0004806 9.43 LIPC LPL
5 low-density lipoprotein particle receptor binding GO:0050750 9.4 APOA5 APOB
6 cholesterol transporter activity GO:0017127 9.37 APOA5 APOB
7 phospholipid binding GO:0005543 9.33 APOA5 APOB APOC3
8 apolipoprotein binding GO:0034185 9.32 LIPC LPL
9 phospholipase activity GO:0004620 9.26 LIPC LPL
10 lipase binding GO:0035473 8.96 APOA5 APOB
11 heparin binding GO:0008201 8.92 APOA5 APOB LIPC LPL

Sources for Hyperlipidemia, Combined, 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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