MCID: HPT025
MIFTS: 38

Hepatic Lipase Deficiency malady

Summaries for Hepatic Lipase Deficiency

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Hepatic lipase is a form of lipase. It is expressed in the liver and adrenal glands. more...

MalaCards: Hepatic Lipase Deficiency is related to atherosclerosis and myocardial infarction. An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are CDP-diacylglycerol biosynthesis I and Fatty Acid Beta Oxidation. The compounds palmitate and guanidine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include liver and adrenal gland, and related mouse phenotype liver/biliary system.

Description from OMIM:46 614025

Aliases & Classifications for Hepatic Lipase Deficiency

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20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

hepatic lipase deficiency 20 22 46 60


Related Diseases for Hepatic Lipase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Hepatic Lipase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.3CES1, LIPC, LPL, APOE, APOA1, LCAT
2myocardial infarction30.1LCAT, APOA1, APOE, LIPC
3hepatitis10.9
4hepatitis a10.4
5hepatitis e10.3
6hepatitis b10.1
7familial lipoprotein lipase deficiency10.1
8hmg coa lyase deficiency10.1
9hypothyroidism10.0LIPC
10lipoprotein lipase deficiency10.0LPL
11familial hypertriglyceridemia10.0LPL
12lipodystrophy10.0LPL
13acute pancreatitis10.0LPL
14hepatitis c10.0LPL
15thromboembolism10.0APOA1
16cerebral atherosclerosis10.0APOA1
17pancreatitis10.0LPL
18cholestasis10.0LIPC, LCAT
19gout10.0LCAT
20lipoprotein glomerulopathy10.0APOE
21alcohol abuse10.0LCAT
22pick's disease10.0APOE
23lipase deficiency combined10.0LPL, LIPC
24hyperhomocysteinemia10.0APOE
25splenomegaly10.0LCAT
26coronary stenosis10.0LIPC, APOA1
27polycystic ovary syndrome10.0LIPC, APOA1
28acute myocardial infarction10.0APOA1, LCAT
29fish-eye disease10.0LCAT, APOA1
30arcus senilis10.0LCAT, APOA1
31complete lcat deficiency10.0APOA1, LCAT
32amyloidosis, secondary10.0APOA1, LCAT
33arteriosclerosis10.0LPL, APOA1
34proteinuria10.0APOA1, LCAT
35uremia10.0LIPC, LPL, LCAT
36alzheimer's disease10.0CES1, APOE
37xanthomatosis10.0APOE, LPL
38dementia10.0LPL, APOE
39hyperlipoproteinemia type v10.0APOE, LPL
40hyperalphalipoproteinemia10.0LIPC, APOA1, LCAT
41familial combined hyperlipidemia10.0APOA1, APOE
42alagille syndrome10.0LCAT, APOA1
43glucose intolerance10.0APOA1, LPL, LIPC
44essential hypertension10.0LPL, APOA1, LCAT
45hyperglycemia10.0LIPC, LPL
46type 1 diabetes10.0LIPC, APOA1, LCAT
47ischemic heart disease10.0LIPC, LPL, APOA1
48galactosemia10.0LIPC, APOA1, LCAT
49metabolic syndrome x10.0LCAT, APOA1, LPL
50hypobetalipoproteinemia10.0APOE, APOA1, LCAT

Graphical network of the top 20 diseases related to Hepatic Lipase Deficiency:



Diseases related to hepatic lipase deficiency

Clinical Features for Hepatic Lipase Deficiency

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46OMIM
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Clinical features from OMIM:

614025

Clinical synopsis from OMIM:

614025

Drugs & Therapeutics for Hepatic Lipase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hepatic Lipase Deficiency

Drug clinical trials:

Search ClinicalTrials for Hepatic Lipase Deficiency

Search NIH Clinical Center for Hepatic Lipase Deficiency

Search CenterWatch for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Hepatic Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency20 22 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

32
Liver, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0LPL, APOE, APOA1, LCAT

Publications for Hepatic Lipase Deficiency

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Genetic Variations for Hepatic Lipase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hepatic Lipase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1LIPCp.Ser289PheVAR_004209rs121912502
2LIPCp.Thr405MetVAR_004210rs28933094

Expression for genes affiliated with Hepatic Lipase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatic Lipase Deficiency

Search GEO for disease gene expression data for Hepatic Lipase Deficiency.

Pathways for genes affiliated with Hepatic Lipase Deficiency

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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB
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Compounds for genes affiliated with Hepatic Lipase Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1palmitate4410.3LCAT
2guanidine hydrochloride449.9APOA1
3dopc449.8LCAT, LIPC
4cholesteryl linoleate449.7LCAT, CES1
5alpha tocopherol449.7LPL, LCAT
6pdpc449.5APOA1, LCAT
7p-nitrophenyl butyrate449.5LCAT, LPL
8cholic acid44 28 11 2412.5CES1, LIPC, LCAT
9plpc449.4LCAT, APOA1
10torcetrapib449.4LCAT, APOA1
11cholesteryl oleate449.4CES1, LPL
12stanozolol449.4LPL, LIPC
13sodium oleate449.3APOA1, LPL
14stearic acid44 11 2411.1LPL, LIPC, CES1
15trioleoylglycerol449.1APOA1, LPL, LIPC
16campesterol44 2410.1APOA1, APOE, CES1
17glibenclamide44 28 49 5912.0APOA1, APOE, LIPC
18palmitic acid28 11 2411.0CES1, LIPC, LPL
19dimyristoylphosphatidylcholine449.0LCAT, APOA1, APOE
20guanidine44 11 2411.0LCAT, APOA1, APOE
21fenofibrate44 49 1110.9LIPC, LPL, APOA1
22acetaldehyde44 28 2410.9LCAT, APOA1, APOE
23niacin44 119.9APOA1, LPL, CES1
24myristic acid44 11 2410.9LCAT, LPL, LIPC, CES1
25sodium dodecylsulfate448.8LCAT, APOE, LPL, LIPC
26pioglitazone44 49 28 1111.8LIPC, LPL, APOA1
27fluvastatin44 49 28 1111.8LPL, APOE, APOA1
28oleic acid44 28 11 2411.7CES1, LIPC, LPL
29gemfibrozil44 28 1110.6LIPC, LPL, APOE, APOA1
30pravastatin44 49 28 11 2412.5LCAT, APOA1, APOE, CES1
31thyroxine44 249.5LIPC, LPL, APOE, APOA1
32retinyl palmitate44 249.4LCAT, APOA1, APOE, LPL
33indomethacin44 59 28 1111.4CES1, LPL, APOE, APOA1
34tamoxifen44 49 28 1111.3APOA1, APOE, LPL, CES1
35sterol448.2LCAT, APOA1, APOE, LIPC, CES1
36lovastatin44 49 59 28 1112.1APOA1, APOE, LPL, LIPC, CES1
37intralipid448.1LCAT, APOA1, APOE, LPL, LIPC
38bezafibrate44 28 1110.1LCAT, APOA1, APOE, LPL, LIPC
39vitamin a44 11 2410.0LCAT, APOA1, APOE, LPL, LIPC
40simvastatin44 49 59 28 11 2413.0LCAT, APOA1, APOE, LPL, CES1
41cholesterol ester447.6CES1, LCAT, APOA1, APOE, LPL, LIPC
42probucol44 118.6LCAT, APOA1, APOE, LPL, LIPC, CES1
43triacylglycerol447.6LCAT, APOA1, APOE, LPL, LIPC, CES1
44atorvastatin44 49 28 11 2411.6LCAT, APOA1, APOE, LPL, LIPC, CES1
45phosphatidylcholine447.6LCAT, APOA1, APOE, LPL, LIPC, CES1
46phospholipid447.6LCAT, APOA1, APOE, LPL, LIPC, CES1
47testosterone44 59 11 2410.6LCAT, APOA1, APOE, LPL, LIPC, CES1
48cholesterol44 28 11 2410.6LCAT, APOA1, APOE, LPL, LIPC, CES1
49estrogen447.5LCAT, APOA1, APOE, LPL, LIPC, CES1
50lipid447.2LCAT, APOA1, APOE, LPL, LIPC, LIPH

GO Terms for genes affiliated with Hepatic Lipase Deficiency

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16Gene Ontology
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Cellular components related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.1APOE, APOA1
2chylomicronGO:0426279.0LPL, APOE
3very-low-density lipoprotein particleGO:0343618.4APOA1, APOE, LPL
4high-density lipoprotein particleGO:0343648.3LIPC, APOE, APOA1, LCAT
5extracellular spaceGO:0056157.2LCAT, APOA1, APOE, LPL, LIPC, LIPH

Biological processes related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:0343829.8APOE, LIPC
2low-density lipoprotein particle remodelingGO:0343749.8APOE, LIPC
3triglyceride catabolic processGO:0194339.6LIPC, LPL
4regulation of Cdc42 protein signal transductionGO:0324899.4APOA1, APOE
5peripheral nervous system axon regenerationGO:0140129.4APOE, APOA1
6high-density lipoprotein particle assemblyGO:0343809.4APOE, APOA1
7high-density lipoprotein particle clearanceGO:0343849.4APOA1, APOE
8positive regulation of cholesterol esterificationGO:0108739.4APOA1, APOE
9phospholipid effluxGO:0337009.3APOE, APOA1
10cholesterol transportGO:0303019.3APOA1, LCAT
11triglyceride metabolic processGO:0066419.2LPL, APOE
12cholesterol effluxGO:0333449.2APOE, APOA1
13fatty acid biosynthetic processGO:0066339.2LIPC, LPL
14phosphatidylcholine biosynthetic processGO:0066569.1LCAT, APOA1
15negative regulation of inflammatory responseGO:0507289.1APOE, APOA1
16triglyceride homeostasisGO:0703289.0LIPC, LPL, APOA1
17lipoprotein biosynthetic processGO:0421589.0LCAT, APOA1, APOE
18retinoid metabolic processGO:0015238.8LPL, APOE, APOA1
19very-low-density lipoprotein particle remodelingGO:0343728.8LIPC, LPL, APOE, LCAT
20phototransduction, visible lightGO:0076038.7LPL, APOE, APOA1
21high-density lipoprotein particle remodelingGO:0343758.6LCAT, APOA1, APOE, LIPC
22reverse cholesterol transportGO:0436918.6LCAT, APOA1, APOE, LIPC
23cholesterol homeostasisGO:0426328.6LIPC, APOE, APOA1, LCAT
24cholesterol metabolic processGO:0082038.6LCAT, APOA1, APOE, LIPC
25lipoprotein metabolic processGO:0421578.3LPL, APOE, APOA1, LCAT

Molecular functions related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:0341859.4LIPC, LPL
2phospholipase activityGO:0046209.2LIPH, LIPC, LPL
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.2APOA1, APOE
4triglyceride lipase activityGO:0048069.2LIPC, LPL
5cholesterol transporter activityGO:0171279.1APOE, APOA1
6beta-amyloid bindingGO:0015409.1APOE, APOA1
7heparin bindingGO:0082018.7LIPH, LIPC, LPL, APOE

Products for genes affiliated with Hepatic Lipase Deficiency

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Sources for Hepatic Lipase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet