HL DEFICIENCY
MCID: HPT025
MIFTS: 48

Hepatic Lipase Deficiency (HL DEFICIENCY) malady

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

Aliases & Classifications for Hepatic Lipase Deficiency

Aliases & Descriptions for Hepatic Lipase Deficiency:

Name: Hepatic Lipase Deficiency 54 50 24 25 66 29 13 69
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 50 25 56
Lipc Deficiency 50 24 25
Hl Deficiency 24 25 66
Hmg Coa Lyase Deficiency 69
Lipase, Hepatic 13

Characteristics:

HPO:

32
hepatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614025
Orphanet 56 ORPHA140905
ICD10 via Orphanet 34 E78.4
MedGen 40 C3151466
MeSH 42 D008052

Summaries for Hepatic Lipase Deficiency

NIH Rare Diseases : 50 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 hmg-coa lyase deficiency and hepatitis, and has symptoms including angina pectoris, hypertriglyceridemia and hyperalphalipoproteinemia. An important gene associated with Hepatic Lipase Deficiency is LIPC (Lipase C, Hepatic Type), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include heart, liver and adrenal gland, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Genetics Home Reference : 25 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 : 66 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 : 71 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM: 614025

Related Diseases for Hepatic Lipase Deficiency

Diseases related to Hepatic Lipase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
id Related Disease Score Top Affiliating Genes
1 hmg-coa lyase deficiency 11.0
2 hepatitis 10.4
3 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.1 LIPC LPL
4 pleural disease 10.0 LIPC PNLIP
5 alport syndrome and thin basement membrane nephropathy 10.0 APOE LPL
6 c1s deficiency 9.9 APOE LPL
7 myxofibrosarcoma 9.9 APOE LPL
8 asphyxia neonatorum 9.9 APOE LPL
9 abducens nerve neoplasm 9.9 LIPC LPL PNLIP
10 familial progressive cardiac conduction defect 9.9 APOA1 APOE
11 albinism, oculocutaneous, type v 9.9 APOA1 APOE
12 lacrimal system cancer 9.9 LPL PNLIP
13 pars planitis 9.9 APOA1 APOE
14 stone in bladder diverticulum 9.9 APOA1 APOE
15 primary pigmented nodular adrenocortical disease 9.9 APOA1 APOE
16 gait apraxia 9.9 APOA1 APOE
17 optic nerve neoplasm 9.8 APOA1 APOE
18 neuropathy, hereditary sensory and autonomic, type ia 9.8 APOA1 APOE
19 atherosclerosis 9.8
20 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 9.8 APOE LIPC LPL
21 dyserythropoietic anemia, congenital, type ii 9.8 APOA1 APOE
22 hard palate cancer 9.8 APOA1 APOE
23 joint disorders 9.7 APOA1 APOE LPL
24 bird fancier's lung 9.7 APOA1 APOE LPL
25 von willebrand disease, platelet-type 9.7 APOA1 APOE LPL
26 mannosidosis, beta 9.7 APOA1 APOE LPL
27 pyrimidine metabolic disorder 9.7 APOA1 APOE LPL
28 pericarditis 9.7 APOA1 APOE LPL
29 cervix small cell carcinoma 9.7 APOA1 APOE
30 glucose intolerance 9.7
31 myocardial infarction 9.7
32 hypoalphalipoproteinemia 9.7
33 skin squamous cell carcinoma 9.6 APOA1 APOE LIPC LPL
34 bleeding disorder, east texas type 9.6 APOA1 APOE LIPC LPL
35 hypertriglyceridemia 9.6 APOA1 APOE LIPC LPL
36 cataract 5, multiple types 9.6 APOA1 APOE LIPC LPL
37 acute apical periodontitis 9.6 APOA1 APOE LIPC LPL
38 lipomatosis 9.6 APOA1 APOE LIPC LPL
39 immunodeficiency 18 9.6 APOA1 APOE LIPC LPL
40 narcolepsy 6 9.6 APOA1 APOE LIPC LPL
41 autoimmune-related retinopathy and optic neuropathy 9.6 APOA1 APOE LIPC LPL
42 macular degeneration, age-related, 12 9.6 APOA1 APOE LIPC LPL
43 chondrocalcinosis with early-onset osteoarthritis 9.6 APOA1 APOE LPL PNLIP
44 maturity-onset diabetes of the young 6 9.5 APOA1 APOE LIPC LPL
45 hyperchlorhidrosis, isolated 9.4 APOA1 APOE LIPC LPL PNLIP
46 von hippel-lindau syndrome 9.4 APOA1 APOE LIPC LPL PNLIP

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



Diseases related to Hepatic Lipase Deficiency

Symptoms & Phenotypes for Hepatic Lipase Deficiency

Symptoms by clinical synopsis from OMIM:

614025

Clinical features from OMIM:

614025

Human phenotypes related to Hepatic Lipase Deficiency:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angina pectoris 56 32 Frequent (79-30%) HP:0001681
2 hypertriglyceridemia 56 32 Obligate (100%) HP:0002155
3 hyperalphalipoproteinemia 56 32 Obligate (100%) HP:0012184
4 eruptive xanthomas 56 32 Very frequent (99-80%) HP:0001013
5 premature coronary artery disease 56 32 Frequent (79-30%) HP:0005181

UMLS symptoms related to Hepatic Lipase Deficiency:


angina pectoris

GenomeRNAi Phenotypes related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 APOA1 APOE LIPC LPL
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 APOA1 APOE LIPC LPL PNLIP
2 liver/biliary system MP:0005370 8.92 APOA1 APOE LPL PNLIP

Drugs & Therapeutics for Hepatic Lipase Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Active, not recruiting NCT01757184 Phase 3
2 Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study Unknown status NCT01791452
3 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Recruiting NCT02851550
4 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Recruiting NCT02852304
5 National Lysosomal Acid Lipase Deficiency Study Recruiting NCT02372513
6 Screening for Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02926872

Search NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

Genetic tests related to Hepatic Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency 29 24 LIPC

Anatomical Context for Hepatic Lipase Deficiency

MalaCards organs/tissues related to Hepatic Lipase Deficiency:

39
Heart, Liver, Adrenal Gland

Publications for Hepatic Lipase Deficiency

Articles related to Hepatic Lipase Deficiency:

(show all 31)
id Title Authors Year
1
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. ( 27573733 )
2016
2
Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. ( 26423094 )
2015
3
Hepatic lipase deficiency in a Middle-Eastern-Arabic male. ( 22798447 )
2010
4
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. ( 16397139 )
2006
5
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. ( 15910863 )
2005
6
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. ( 16224048 )
2005
7
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. ( 15292235 )
2004
8
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. ( 15175359 )
2004
9
Lipoprotein metabolism in subjects with hepatic lipase deficiency. ( 15045702 )
2004
10
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. ( 12777476 )
2003
11
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. ( 11906928 )
2002
12
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. ( 10787427 )
2000
13
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. ( 10208500 )
1999
14
Hepatic lipase deficiency. ( 9885775 )
1998
15
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. ( 9050773 )
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
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. ( 9284885 )
1997
19
Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. ( 8824281 )
1996
20
Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. ( 8609237 )
1996
21
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. ( 8123642 )
1994
22
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. ( 8364012 )
1993
23
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. ( 8485124 )
1993
24
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. ( 1883393 )
1991
25
The molecular basis of hepatic lipase deficiency. ( 1933710 )
1991
26
Plasma lipoproteins in familial hepatic lipase deficiency. ( 2297346 )
1990
27
The rabbit as an animal model of hepatic lipase deficiency. ( 2930766 )
1989
28
Large buoyant LDL-like particles in hepatic lipase deficiency. ( 2719594 )
1989
29
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
30
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
31
Familial hepatic lipase deficiency. ( 3799360 )
1986

Variations for Hepatic Lipase Deficiency

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

66
id Symbol AA change Variation ID SNP ID
1 LIPC p.Ser289Phe VAR_004209 rs121912502
2 LIPC p.Thr405Met VAR_004210 rs113298164

ClinVar genetic disease variations for Hepatic Lipase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LIPC NM_000236.2(LIPC): c.1214C> T (p.Thr405Met) single nucleotide variant Pathogenic rs113298164 GRCh37 Chromosome 15, 58855748: 58855748
2 LIPC LIPC, ALA174THR single nucleotide variant Pathogenic

Expression for Hepatic Lipase Deficiency

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

Pathways for Hepatic Lipase Deficiency

Pathways related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 APOA1 APOE LIPC LPL PNLIP
2
Show member pathways
12.17 APOA1 APOE LPL PNLIP
3
Show member pathways
11.89 APOA1 APOE LIPC LPL PNLIP
4
Show member pathways
11.79 APOA1 APOE LPL PNLIP
5 11.63 APOA1 APOE
6
Show member pathways
11.61 LIPC LPL PNLIP
7
Show member pathways
11.53 APOA1 APOE
8 11.35 APOA1 LPL
9
Show member pathways
11.22 LIPC PNLIP
10
Show member pathways
11.18 LIPC LPL
11
Show member pathways
11.08 APOA1 PNLIP
12 10.78 APOA1 PNLIP
13
Show member pathways
10.76 APOA1 APOE LIPC LPL
14 10.41 LIPC PNLIP

GO Terms for Hepatic Lipase Deficiency

Cellular components related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 APOA1 APOE LIPC LPL PNLIP
2 extracellular space GO:0005615 9.78 APOA1 APOE LIPC LPL
3 endoplasmic reticulum lumen GO:0005788 9.61 APOA1 APOE LIPC
4 extracellular vesicle GO:1903561 9.46 APOA1 APOE
5 endocytic vesicle lumen GO:0071682 9.37 APOA1 APOE
6 high-density lipoprotein particle GO:0034364 9.33 APOA1 APOE LIPC
7 low-density lipoprotein particle GO:0034362 9.32 APOA1 APOE
8 intermediate-density lipoprotein particle GO:0034363 9.26 APOA1 APOE
9 very-low-density lipoprotein particle GO:0034361 9.13 APOA1 APOE LPL
10 chylomicron GO:0042627 8.8 APOA1 APOE LPL

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 APOA1 APOE LIPC LPL PNLIP
2 lipid catabolic process GO:0016042 9.72 LIPC LPL PNLIP
3 cholesterol metabolic process GO:0008203 9.69 APOA1 APOE LIPC
4 lipid transport GO:0006869 9.65 APOA1 APOE
5 steroid metabolic process GO:0008202 9.65 APOA1 APOE
6 negative regulation of inflammatory response GO:0050728 9.65 APOA1 APOE
7 lipoprotein metabolic process GO:0042157 9.65 APOA1 APOE LPL
8 fatty acid biosynthetic process GO:0006633 9.64 LIPC LPL
9 phospholipid metabolic process GO:0006644 9.64 APOA1 LPL
10 triglyceride metabolic process GO:0006641 9.63 APOE LPL
11 cholesterol efflux GO:0033344 9.63 APOA1 APOE
12 cholesterol transport GO:0030301 9.62 APOA1 LIPC
13 lipid digestion GO:0044241 9.62 LIPC PNLIP
14 cholesterol homeostasis GO:0042632 9.62 APOA1 APOE LIPC LPL
15 high-density lipoprotein particle assembly GO:0034380 9.61 APOA1 APOE
16 low-density lipoprotein particle remodeling GO:0034374 9.61 APOE LIPC
17 reverse cholesterol transport GO:0043691 9.61 APOA1 APOE LIPC
18 phospholipid efflux GO:0033700 9.6 APOA1 APOE
19 regulation of lipoprotein lipase activity GO:0051004 9.59 LIPC LPL
20 lipoprotein biosynthetic process GO:0042158 9.58 APOA1 APOE
21 chylomicron assembly GO:0034378 9.58 APOA1 APOE
22 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 APOE LIPC
23 positive regulation of cholesterol esterification GO:0010873 9.57 APOA1 APOE
24 high-density lipoprotein particle clearance GO:0034384 9.56 APOA1 APOE
25 chylomicron remnant clearance GO:0034382 9.54 APOE LIPC
26 chylomicron remodeling GO:0034371 9.54 APOA1 APOE LPL
27 neuron projection regeneration GO:0031102 9.52 APOA1 APOE
28 regulation of Cdc42 protein signal transduction GO:0032489 9.49 APOA1 APOE
29 retinoid metabolic process GO:0001523 9.46 APOA1 APOE LPL PNLIP
30 very-low-density lipoprotein particle remodeling GO:0034372 9.43 APOE LIPC LPL
31 triglyceride homeostasis GO:0070328 9.26 APOA1 APOE LIPC LPL
32 triglyceride catabolic process GO:0019433 8.92 APOA1 APOE LIPC LPL

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.51 APOA1 APOE
2 heparin binding GO:0008201 9.5 APOE LIPC LPL
3 cholesterol binding GO:0015485 9.49 APOA1 APOE
4 beta-amyloid binding GO:0001540 9.48 APOA1 APOE
5 lipid transporter activity GO:0005319 9.46 APOA1 APOE
6 cholesterol transporter activity GO:0017127 9.43 APOA1 APOE
7 apolipoprotein binding GO:0034185 9.4 LIPC LPL
8 phospholipase activity GO:0004620 9.37 LIPC LPL
9 lipoprotein particle binding GO:0071813 9.26 APOA1 APOE
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA1 APOE
11 carboxylic ester hydrolase activity GO:0052689 9.13 LIPC LPL PNLIP
12 triglyceride lipase activity GO:0004806 8.8 LIPC LPL PNLIP

Sources for Hepatic Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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