MCID: HPT025
MIFTS: 43

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 hmg-coa lyase deficiency and osteoarthritis, 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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Diseases related to Hepatic Lipase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1hmg-coa lyase deficiency11.5
2osteoarthritis10.6
3hepatitis10.1
4spondylometaphyseal dysplasia, megarbane-dagher-melike type10.0LIPC, LPL
5bacteriuria10.0LIPC, LPL
6neuronal ceroid lipofuscinosis10.0LIPC, LPL
7arteriovenous fistula10.0LIPC, LPL
8malaria9.9
9esophageal cancer9.9
10osteogenesis imperfecta, type i9.9
11cholangiocarcinoma9.9
12motor neuron disease9.9
13vitelliform macular dystrophy9.9
14lymphoma9.9
15apraxia9.9
16microcephaly9.9
17esophagitis9.9
18osteogenesis imperfecta9.9
19hepatitis a9.9
20plasmodium vivax malaria9.9
21prostatitis9.9
22olivopontocerebellar atrophy9.9
23intestinal perforation9.9
24hemoglobinopathy9.9
25cerebritis9.9
26retinitis9.9
27tuberculosis9.9
28avian influenza9.9
29neuronitis9.9
30influenza9.9
31ischemic optic neuropathy9.8APOA1, LPL
32hiv-19.8
33breast cancer9.8
34landau-kleffner syndrome9.8
35infertility9.8
36endotheliitis9.8
37sick sinus syndrome9.7APOA1, LPL
38scurvy9.7APOA1, LPL
39wolfram syndrome 29.7APOA1, LPL
40immunodeficiency 32a, mycobacteriosis, autosomal dominant9.7APOA1, LPL
41thyroid cancer9.6APOA1, LPL
42hyperphenilalaninemia due to pterin-4-alpha-carbin9.5APOA1, LIPC, LPL
43apolipoprotein c-iii deficiency9.5APOA1, LIPC, LPL
44hyperlipidemia, familial combined9.5APOA1, LIPC, LPL
45lissencephaly 6, with microcephaly9.5APOA1, LIPC, LPL
46melanoacanthoma9.5APOA1, LIPC, LPL
47autistic disorder9.5APOA1, LIPC
48dermal unilateral segmental cavernous angioma9.5APOA1, LIPC, LPL
49immunodeficiency 199.5APOA1, LIPC, LPL
50codas syndrome9.5APOA1, LIPC, LPL

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, Thyroid, Prostate, Endothelial, Testes

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 30)
idTitleAuthorsYear
1
The deferiprone and deferasirox combination is efficacious in iron overloaded patients with I^-thalassemia major: A prospective, single center, open-label study. (25820920)
2015
2
The value of FDG-PET in the diagnosis of thromboangiitis obliterans-a case series. (24794493)
2014
3
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription. (24702955)
2014
4
Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes. (24664696)
2014
5
Lyme disease with effusion either in hip or knee in children from Podlaskie region treated in clinic in 2004-2010. (25394303)
2014
6
Clinical and microbiological characteristics of peritoneal dialysis-related peritonitis caused by Klebsiella pneumoniae in southern Taiwan. (24291619)
2013
7
Dietary pattern, nutritional density, and dietary quality were low in patients with cerebral infarction in Korea. (21925345)
2011
8
Testing for and treating the underlying causes of dyspepsia. (22010761)
2011
9
Interference with netrin-1 and tumor cell death in non-small cell lung cancer. (19211441)
2009
10
Sweetness and bitterness taste of meals per se does not mediate gastric emptying in humans. (19535679)
2009
11
Surgical management of spontaneous coronary artery dissection. (19156232)
2008
12
ADAM15 supports prostate cancer metastasis by modulating tumor cell-endothelial cell interaction. (18281484)
2008
13
Lipoplex gene transfer of inducible nitric oxide synthase inhibits the reactive intimal hyperplasia after expanded polytetrafluoroethylene bypass grafting. (16678699)
2006
14
A report of two cases of Hashimoto's thyroiditis and synchronous parathyroid adenoma. (17183886)
2006
15
p53-Independent negative regulation of p21/cyclin-dependent kinase-interacting protein 1 by the sonic hedgehog-glioma-associated oncogene 1 pathway in gastric carcinoma cells. (16322228)
2005
16
Lymphocyte subsets in Bell's palsy: immune pathogenesis and outcome prediction. (15464637)
2004
17
Percutaneous injection of recombinant human bone morphogenetic protein-2 in a calcium phosphate paste accelerates healing of a canine tibial osteotomy. (15252089)
2004
18
Rottlerin, an inhibitor of protein kinase Cdelta (PKCdelta), inhibits astrocytic glutamate transport activity and reduces GLAST immunoreactivity by a mechanism that appears to be PKCdelta-independent. (12859677)
2003
19
Adenovirus targeting to c-erbB-2 oncoprotein by single-chain antibody fused to trimeric form of adenovirus receptor ectodomain. (11809717)
2002
20
Geminin bans replication licence. (11175762)
2001
21
Heat-induced alterations in the localization of HSP72 and HSP73 as measured by indirect immunohistochemistry and immunogold electron microscopy. (10681386)
2000
22
Infectious agents as triggers of reactive arthritis. (9766488)
1998
23
Fenfluramine and idiopathic pain: a serotonergic study in non-psychiatric patients with functional gastrointestinal disorder. (9712230)
1998
24
Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. (9158137)
1997
25
Identification and characterization of Saccharomyces cerevisiae EXO1, a gene encoding an exonuclease that interacts with MSH2. (9207118)
1997
26
LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120- kDa anchoring filament protein synthesized by epidermal cells. (8618013)
1996
27
Dermatomyositis presenting with Ludwig's angina. (3468463)
1987
28
THE BJERRUM SCOTOMA. (14271000)
1965
29
30

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