MCID: HPT025
MIFTS: 44

Hepatic Lipase Deficiency malady

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

Aliases & Classifications for Hepatic Lipase Deficiency

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Aliases & Descriptions for Hepatic Lipase Deficiency:

Name: Hepatic Lipase Deficiency 49 11 45 22 23 67 65
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 45 23 51
Lipc Deficiency 45 22 23
 
Hl Deficiency 22 23 67
Lipase, Hepatic 11 24
Hmg Coa Lyase Deficiency 65

Characteristics:

HPO:

61
hepatic lipase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614025
Orphanet51 140905
ICD10 via Orphanet28 E78.4
MedGen34 C3151466
MeSH36 D008052
UMLS65 C3151466, C0268601

Summaries for Hepatic Lipase Deficiency

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NIH Rare Diseases:45 Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. affected people may also have increased levels of high-density lipoproteins (hdls) and decreased levels of low-density lipoproteins (ldls), which are two molecules that help transport fats throughout the body. hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. hepatic lipase deficiency is caused by changes (mutations) in the lipc gene and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 4/2/2016

MalaCards based summary: Hepatic Lipase Deficiency, also known as hyperlipidemia due to hepatic triglyceride lipase deficiency, is related to myocardial infarction and hmg-coa lyase deficiency, and has symptoms including eruptive xanthomasand angina pectoris. An important gene associated with Hepatic Lipase Deficiency is LIPC (Lipase C, Hepatic Type), and among its related pathways are triacylglycerol biosynthesis and Mitochondrial LC-Fatty Acid Beta-Oxidation. Affiliated tissues include liver, heart and adrenal gland.

Genetics Home Reference:23 Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large.

UniProtKB/Swiss-Prot:67 Hepatic lipase deficiency: A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins.

Wikipedia:68 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM:49 614025

Related Diseases for Hepatic Lipase Deficiency

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



Diseases related to hepatic lipase deficiency

Symptoms for Hepatic Lipase Deficiency

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Symptoms by clinical synopsis from OMIM:

614025

Clinical features from OMIM:

614025

HPO human phenotypes related to Hepatic Lipase Deficiency:

id Description Frequency HPO Source Accession
1 eruptive xanthomas HP:0001013
2 angina pectoris HP:0001681

Drugs & Therapeutics for Hepatic Lipase Deficiency

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Drugs for Hepatic Lipase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy)Active, not recruitingNCT01757184Phase 3
2National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513
3Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical StudyNot yet recruitingNCT01791452

Search NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

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Genetic tests related to Hepatic Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency22 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

33
Liver, Heart, Adrenal gland, Prostate, Thyroid, Endothelial, Breast

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Hepatic Lipase Deficiency

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Articles related to Hepatic Lipase Deficiency:

(show all 32)
idTitleAuthorsYear
1
Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. (26423094)
2015
2
Hepatic lipase deficiency in a Middle-Eastern-Arabic male. (22798447)
2010
3
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)
2006
4
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)
2005
5
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)
2005
6
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)
2004
7
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)
2004
8
Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)
2004
9
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)
2003
10
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)
2002
11
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. (10787427)
2000
12
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. (10208500)
1999
13
Hepatic lipase deficiency. (9885775)
1998
14
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)
1997
15
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)
1997
16
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)
1997
17
Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)
1997
18
Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)
1996
19
Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)
1996
20
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)
1994
21
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)
1993
22
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)
1993
23
The molecular basis of hepatic lipase deficiency. (1933710)
1991
24
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)
1991
25
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
26
The rabbit as an animal model of hepatic lipase deficiency. (2930766)
1989
27
Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)
1989
28
The beta very low density lipoprotein present in hepatic lipase deficiency competitively inhibits low density lipoprotein binding to fibroblasts and stimulates fibroblast acyl-CoA:cholesterol acyltransferase. (3170542)
1988
29
Lipoprotein metabolism in hepatic lipase deficiency: studies on the turnover of apolipoprotein B and on the effect of hepatic lipase on high density lipoprotein. (3244012)
1988
30
Familial hepatic lipase deficiency. (3799360)
1986
31
32

Variations for Hepatic Lipase Deficiency

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

67
id Symbol AA change Variation ID SNP ID
1LIPCp.Ser289PheVAR_004209rs121912502
2LIPCp.Thr405MetVAR_004210rs113298164

Clinvar genetic disease variations for Hepatic Lipase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LIPCNM_000236.2(LIPC): c.1214C> T (p.Thr405Met)single nucleotide variantPathogenicrs113298164GRCh37Chr 15, 58855748: 58855748
2LIPCNM_000236.2(LIPC): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121912502GRCh37Chr 15, 58840586: 58840586
3LIPCLIPC, ALA174THRsingle nucleotide variantPathogenic

Expression for genes affiliated with Hepatic Lipase Deficiency

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

Pathways for genes affiliated with Hepatic Lipase Deficiency

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GO Terms for genes affiliated with Hepatic Lipase Deficiency

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Biological processes related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1reverse cholesterol transportGO:00436919.9APOA1, LIPC
2high-density lipoprotein particle remodelingGO:00343759.7APOA1, LIPC
3chylomicron remodelingGO:00343719.7LIPC, LPL
4triglyceride homeostasisGO:00703289.5APOA1, LPL
5response to drugGO:00424939.4APOA1, LIPC
6retinoid metabolic processGO:00015239.4APOA1, LPL
7lipid metabolic processGO:00066299.3LIPC, LPL
8phototransduction, visible lightGO:00076039.2APOA1, LPL
9cholesterol homeostasisGO:00426329.0LIPC, LPL

Molecular functions related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.1LIPC, LPL

Sources for Hepatic Lipase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet