Hyperlipidemia, Familial Combined malady

Genetic diseases (common), Metabolic diseases categories

Aliases & Classifications for Hyperlipidemia, Familial Combined

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46OMIM, 8Disease Ontology, 9diseasecard, 10DISEASES, 44Novoseek, 22GTR, 61UMLS, 27ICD9CM, 56SNOMED-CT, 39NCIt, 33MeSH, 25ICD10
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Aliases & Descriptions for Hyperlipidemia, Familial Combined:

Name: Hyperlipidemia, Familial Combined 46 61
Mixed Hyperlipidemia 8 44 61
Combined Hyperlipidemia, Familial 46 9
Familial Combined Hyperlipidemia 8 10
Hyperlipidemia Familial Combined 44 22
Hyperbetalipoproteinemia with Prebetalipoproteinemia 8
Hyperlipidemia, Familial Combined, Susceptibility to 9
Familial Multiple Lipoprotein-Type Hyperlipidemia 8
Type Iib Hyperlipoproteinemia 8
Hyperlipoproteinemia Type Iib 61
Hyperlipidemia, Combined, 1 46
Mixed Hyperlipidaemia 8


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Disease Ontology8 DOID:13809
ICD9CM27 272.2
NCIt39 C34821
MeSH33 D006950
ICD1025 E78.2

Summaries for Hyperlipidemia, Familial Combined

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OMIM:46 Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of... (144250) more...

MalaCards based summary: Hyperlipidemia, Familial Combined, also known as mixed hyperlipidemia, is related to hyperalphalipoproteinemia and hypertriglyceridemia, and has symptoms including autosomal dominant inheritance, xanthelasma and myocardial infarction. An important gene associated with Hyperlipidemia, Familial Combined is USF1 (upstream transcription factor 1), and among its related pathways are Cholesterol and Sphingolipids transport Recycling to plasma membrane in lung normal and CF and Fat digestion and absorption. The compounds retinyl palmitate and lecithin have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and growth/size/body.

Description from OMIM:46 602491

Related Diseases for Hyperlipidemia, Familial Combined

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Diseases in the Hyperlipidemia, Familial Combined family:

Hyperlipidemia, Combined, 2

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1hyperalphalipoproteinemia30.3APOC3, APOA2
2hypertriglyceridemia30.0APOC3, LPL, APOA2
3coronary artery disease29.9APOA2, LPL, ADRB3, APOA4, APOC3
4fatty liver disease29.6APOC3, ADRB3, FABP2, LPL
5obesity29.3LPL, USF1, APOA4, APOC3, APOA2, ADRB3
6atherosclerosis29.3APOC3, APOA4, LPL, FABP2, ADRB3, APOA2
8artery disease10.5
10acute pancreatitis10.3
12recurrent acute pancreatitis10.3
13norum disease10.2LPL, APOA2
14hyperlipidemia, combined, 210.2
15hyperchylomicronemia, late-onset10.2
16liver disease10.2
21hyperlipidemia type 310.1
22hypercholesterolemia, familial10.1LPL, APOA4
23amyloidosis10.1LPL, APOA2
24cerebrovascular disease10.0LPL, FABP2
25hyperuricemia10.0ADRB3, FABP2
26glucose intolerance9.9LPL, ADRB3
27metabolic syndrome x9.9LPL, ADRB3, USF1
28morbid obesity9.9LPL, FABP2, ADRB3
29hyperglycemia9.9APOA4, LPL, ADRB3
30proteinuria9.9APOC3, APOA4, APOA2
31hypoalphalipoproteinemia9.8LPL, APOA2, APOC3
32tangier disease9.8LPL, APOA2, APOC3
33myocardial infarction9.8APOA4, APOC3, APOA2
34uremia9.7APOC3, LPL
35lipodystrophy9.7APOC3, ADRB3, LPL
36hyperinsulinism9.7APOA2, ADRB3, FABP2, LPL
37familial hyperlipidemia9.7LPL, APOA2, APOC3, USF1
38lipid metabolism disorder9.2USF1, ADRB3, APOC3, FABP2, LPL, APOA2
39diabetes mellitus, noninsulin-dependent9.2ADRB3, APOA4, APOC3, APOA2, LPL, FABP2
40diabetes mellitus, insulin-dependent9.2LPL, APOA2, FABP2, ADRB3, APOC3, APOA4

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

Diseases related to hyperlipidemia, familial combined

Symptoms for Hyperlipidemia, Familial Combined

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Hyperlipidemia, Familial Combined:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 xanthelasma HP:0001114
3 myocardial infarction HP:0001658
4 combined hyperlipidemia HP:0008356

Drugs & Therapeutics for Hyperlipidemia, Familial Combined

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Drug clinical trials:

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Search NIH Clinical Center for Hyperlipidemia, Familial Combined

Genetic Tests for Hyperlipidemia, Familial Combined

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Genetic tests related to Hyperlipidemia, Familial Combined:

id Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined22

Anatomical Context for Hyperlipidemia, Familial Combined

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Animal Models for Hyperlipidemia, Familial Combined or affiliated genes

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MGI Mouse Phenotypes related to Hyperlipidemia, Familial Combined:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.2LPL, FABP2, ADRB3, APOC3
2MP:00053787.8LPL, FABP2, ADRB3, APOA2, APOC3
3MP:00053867.5USF1, APOA4, APOC3, RXRG, ADRB3
4MP:00053767.3APOA4, APOC3, APOA2, ADRB3, FABP2, LPL

Publications for Hyperlipidemia, Familial Combined

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Variations for Hyperlipidemia, Familial Combined

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Clinvar genetic disease variations for Hyperlipidemia, Familial Combined:

id Gene Variation Type Significance SNP ID Assembly Location
1LPLLPL, -39T-Csingle nucleotide variantPathogenic
2LPLNM_000237.2(LPL): c.953A> G (p.Asn318Ser)single nucleotide variantPathogenicrs268GRCh37Chr 8, 19813529: 19813529
3LPLNM_000237.2(LPL): c.106G> A (p.Asp36Asn)single nucleotide variantPathogenicrs1801177GRCh37Chr 8, 19805708: 19805708
4LPLLPL, -93T-Gsingle nucleotide variantPathogenic

Expression for genes affiliated with Hyperlipidemia, Familial Combined

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

Pathways for genes affiliated with Hyperlipidemia, Familial Combined

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Compounds for genes affiliated with Hyperlipidemia, Familial Combined

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Compounds related to Hyperlipidemia, Familial Combined according to GeneCards Suite gene sharing:

(show all 47)
idCompoundScoreTop Affiliating Genes
1retinyl palmitate44 2411.0LPL, APOA4
2lecithin4410.0APOA2, APOA4
3fenofibric acid44 2811.0APOC3, LPL
4sele449.9APOC3, LPL
5dimyristoylphosphatidylcholine449.9APOA4, APOA2
6clofibrate44 28 1111.9APOC3, LPL
7hind iii449.9LPL, APOC3
8taurocholate449.8APOC3, LPL
9stearic acid44 24 1111.8LPL, FABP2
10palmitic acid28 24 1111.8FABP2, LPL
11myristic acid44 24 1111.8LPL, FABP2
12pravastatin44 50 28 24 1113.7APOC3, LPL
13acyl-coa449.7APOC3, LPL
14linoleic acid28 44 2411.6FABP2, LPL
15xbai449.6LPL, APOC3, APOA4
16acetyl-coa44 2410.6FABP2, LPL, USF1
17lovastatin44 50 60 28 1113.6LPL, APOC3
18atorvastatin44 50 28 24 1113.6LPL, APOC3
19phosphatidylcholine449.6APOA4, APOA2, LPL
20ritonavir44 50 1111.6LPL, APOC3, APOA4
21oleic acid44 28 24 1112.6FABP2, LPL, APOA4
22chloramphenicol44 1 50 1112.6APOC3, LPL, USF1
23gemfibrozil28 44 1111.5LPL, APOA2, APOC3
24bezafibrate44 28 1111.5LPL, APOA2, APOC3
25mspi449.5APOA4, APOC3, APOA2
26glutamine449.5APOA2, APOA4, LPL
27palmitate449.5FABP2, LPL
28carbohydrates449.4FABP2, LPL, APOC3
29pyruvate449.4APOC3, FABP2, USF1
30fibrinogen449.4APOA2, APOA4, APOC3
31creatinine449.3APOA4, APOC3, FABP2
32p002449.2APOA4, APOC3
33intralipid449.1APOA2, APOA4, APOC3, LPL
34cholesterol ester449.1APOC3, APOA2, LPL, APOA4
35leucine449.1USF1, APOA4, APOC3, APOA2
36heparin44 28 24 1112.1LPL, APOA2, APOC3, APOA4
37vitamin a44 24 1111.1APOC3, FABP2, LPL, APOA4
38fenofibrate44 50 1111.0LPL, FABP2, APOA2, APOC3
39retinoic acid44 249.6FABP2, RXRG, APOC3, APOA2
40triacylglycerol448.6APOA2, APOA4, APOC3, LPL, FABP2
41phospholipid448.6FABP2, APOA4, APOC3, LPL, APOA2
42vitamin d448.5RXRG, ADRB3, FABP2, LPL
43estrogen448.4APOC3, APOA2, ADRB3, LPL, USF1
44fatty acid447.5APOA4, APOA2, ADRB3, LPL, FABP2, APOC3
45cholesterol44 28 24 1110.5LPL, APOA4, APOC3, APOA2, ADRB3, USF1
46glucose446.8LPL, FABP2, ADRB3, APOC3, RXRG, APOA4
47lipid446.8APOA4, ADRB3, FABP2, LPL, RXRG, APOA2

GO Terms for genes affiliated with Hyperlipidemia, Familial Combined

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

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:00343669.5APOC3, APOA2
2high-density lipoprotein particleGO:00343649.3APOA4, APOA2
3early endosomeGO:00057699.0APOA2, APOC3, APOA4
4chylomicronGO:00426278.8LPL, APOA2, APOC3, APOA4
5very-low-density lipoprotein particleGO:00343618.8LPL, APOA2, APOC3, APOA4
6extracellular regionGO:00055768.7LPL, APOA2, APOC3, APOA4

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remodelingGO:003437110.0APOA4, LPL
2very-low-density lipoprotein particle remodelingGO:00343729.9LPL, APOA4
3lipid homeostasisGO:00550889.8APOA4, USF1
4regulation of intestinal cholesterol absorptionGO:00303009.8APOA4, APOA2
5positive regulation of cholesterol esterificationGO:00108739.8APOA4, APOA2
6negative regulation of cholesterol importGO:00606219.8APOC3, APOA2
7negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.8APOA2, APOC3
8triglyceride catabolic processGO:00194339.6LPL, APOC3
9negative regulation of lipid catabolic processGO:00509959.6APOC3, APOA2
10triglyceride homeostasisGO:00703289.6LPL, APOC3
11phospholipid effluxGO:00337009.4APOA2, APOC3, APOA4
12triglyceride metabolic processGO:00066419.4LPL, APOA2, APOC3
13high-density lipoprotein particle remodelingGO:00343759.4APOA2, APOC3, APOA4
14reverse cholesterol transportGO:00436919.4APOA2, APOC3, APOA4
15cholesterol effluxGO:00333449.4APOA2, APOA4, APOC3
16cholesterol homeostasisGO:00426329.4APOA4, APOA2, APOC3
17cholesterol metabolic processGO:00082039.3APOA2, APOA4, APOC3
18response to coldGO:00094099.2ADRB3, LPL
19lipoprotein metabolic processGO:00421579.1APOA2, LPL, APOC3, APOA4
20retinoid metabolic processGO:00015239.1LPL, APOA2, APOC3, APOA4
21phototransduction, visible lightGO:00076039.0APOA4, APOC3, APOA2, LPL
22response to drugGO:00424938.8APOC3, LPL, APOA2
23small molecule metabolic processGO:00442818.7LPL, APOA2, APOA4, APOC3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.8APOA2, APOA4
2cholesterol transporter activityGO:00171279.7APOA2, APOA4
3high-density lipoprotein particle receptor bindingGO:00706539.7APOA2, APOC3
4lipase inhibitor activityGO:00551029.6APOC3, APOA2
5phosphatidylcholine bindingGO:00312109.6APOA2, APOA4
6lipid transporter activityGO:00053199.5APOA4, APOA2
7phospholipid bindingGO:00055439.5APOA2, APOC3
8cholesterol bindingGO:00154859.2APOA2, APOC3
9protein homodimerization activityGO:00428038.5USF1, APOA4, APOA2, ADRB3

Sources for Hyperlipidemia, Familial Combined

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet