MCID: FML026
MIFTS: 52

Familial Lipoprotein Lipase Deficiency malady

Genetic diseases category

Summaries for Familial Lipoprotein Lipase Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body. this condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas. mutations in the lpl gene cause hyperlipoproteinemia type 1, and this condition is inherited in an autosomal recessive pattern. the treatment for hyperlipoproteinemia type 1 is a low-fat diet. last updated: 8/24/2009

MalaCards: Familial Lipoprotein Lipase Deficiency, also known as familial lpl deficiency, is related to familial hyperlipidemia and acute pancreatitis. An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (lipoprotein lipase), and among its related pathways are Visual phototransduction and Lipoprotein metabolism. The drugs fish oils and niacin and the compounds trioleoylglycerol and gemfibrozil have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen.

Genetics Home Reference:21 Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body. The condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly) and small yellow skin lesions called eruptive xanthomas.

Description from OMIM:46 238600

GeneReviews summary for lpl

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 56SNOMED-CT, 34MeSH, 46OMIM, 27ICD9CM, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

familial lipoprotein lipase deficiency 8 19 21 10
familial lpl deficiency 8 63 19 21
lipoprotein lipase deficiency, familial 63 20 21
hyperlipoproteinemia type i 63 21 60
familial fat-induced hypertriglyceridemia 63 21
hyperchylomicronemia, familial 63 21
hyperlipoproteinemia type 1 42 22
chylomicronemia syndrome 42 60
burger-grutz syndrome 63 21
lipase d deficiency 63 21
lipd deficiency 63 21
familial lipoprotein lipase deficiency with type i phenotype 8
hyperlipemia idiopathic burger-grutz type 42
fredrickson type i hyperlipoproteinemia 8
familial hyperlipo-proteinemia type 1 42
familial hyperlipoproteinemia type i 8
hypercholesterinaemic xanthomatosis 8
hyperlipemia essential familial 42
secondary hypertriglyceridemia 60
hyperchylomicro-nemia familial 42
familial hyperchylomicronemia 8
hyperlipoproteinemia type ia 60
fredrickson type i lipaemia 8
type i hyperlipoproteinemia 19
chylomicronemia, familial 42
familial chylomicronemia 42
mixed hyperglyceridemia 8
hyperchylomicronemia 8
lpl deficiency 42
hyperlipidemia 60


External Ids:

Disease Ontology8 DOID:14118
OMIM46 238600
ICD9CM27 272.3
NCIt39 C84771

Related Diseases for Familial Lipoprotein Lipase Deficiency

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

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1familial hyperlipidemia31.5LPL, APOC2
2acute pancreatitis30.4APOC2, LPL
3lipoprotein lipase deficiency30.3LPL
4type 2 diabetes mellitus30.3APOC2, LPL
5familial hypertriglyceridemia30.3APOC2, LPL
6hyperlipoproteinemia type v30.3APOC2, LPL
7glucose intolerance30.2APOC2, LPL
8vascular disease29.9APOC2, LPL
9hypertriglyceridemia29.7APOC2, LPL
10hypercholesterolemia29.6LPL, APOC2
11familial combined hyperlipidemia11.0
12hypertension10.5
13pancreatitis10.4
14familial hypercholesterolemia10.4
15coronary artery disease10.3
16hyperglycemia10.3
17factor xii deficiency10.2
18hepatitis10.2
19obesity10.2
20hyperlipidemia type 310.2
21nephrotic syndrome10.2
22xanthomatosis10.2
23urticaria10.1
24hyperlipoproteinemia, type ib10.1
25hyperhomocysteinemia10.1
26glycogen storage disease10.1
27ischemic heart disease10.1
28atherosclerosis10.1
29diabetes mellitus10.1
30stroke, ischemic10.0
31liver disease10.0
32glycogen storage disease type 1a10.0
33hypoglycemia10.0
34abetalipoproteinemia10.0LPL
35pancreatitis, chronic10.0APOC2, LPL
36chronic kidney failure10.0LPL, APOC2
37diabetic nephropathy10.0
38focal segmental glomerulosclerosis10.0
39major depressive disorder10.0
40glycogen storage disease iii10.0
41cerebritis10.0
42hyperphosphatemia10.0
43fatty liver disease10.0
44focal glomerulosclerosis10.0
45acute leukemia10.0
46hepatitis a10.0
47diabetic neuropathy10.0
48glomerulonephritis10.0
49ischemia10.0
50leukemia10.0

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



Diseases related to familial lipoprotein lipase deficiency

Clinical Features for Familial Lipoprotein Lipase Deficiency

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46OMIM
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Clinical features from OMIM:

238600

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Familial Lipoprotein Lipase Deficiency

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

id Genetic test Affiliating Genes
1 Familial Lipoprotein Lipase Deficiency20 LPL
2 Hyperlipoproteinemia, Type I22

Anatomical Context for Familial Lipoprotein Lipase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

32
Skin, Liver, Spleen, Pancreas

Animal Models for Familial Lipoprotein Lipase Deficiency or affiliated genes

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Publications for Familial Lipoprotein Lipase Deficiency

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50PubMed
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Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 39)
idTitleAuthorsYear
1
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. (23761384)
2013
2
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. (18275685)
2008
3
Familial lipoprotein lipase deficiency]. (17824045)
2007
4
HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family. (15255783)
2004
5
A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency. (11750290)
2002
6
Lipoprotein lipase deficiency, familial]. (11528646)
2001
7
Familial lipoprotein lipase deficiency]. (11347061)
2001
8
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. (11468054)
2001
9
Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPL(Arita)) and apolipoprotein epsilon4: a report of a family with LPL(Arita). (11403097)
2001
10
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. (11068186)
2000
11
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)). (10735636)
2000
12
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. (10342813)
1999
13
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. (10199753)
1999
14
Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. (10400113)
1999
15
A gene analysis of familial lipoprotein lipase deficiency in China]. (10431049)
1999
16
Familial lipoprotein lipase deficiency]. (9645014)
1998
17
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. (9738727)
1998
18
Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. (9401010)
1997
19
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
20
Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His). (8728326)
1996
21
Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency. (8097805)
1993
22
Familial Lipoprotein Lipase Deficiency (20301485)
1993
23
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (1619366)
1992
24
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
25
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. (1530621)
1992
26
Adipose cell size and distribution in familial lipoprotein lipase deficiency. (1330953)
1992
27
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. (1554674)
1992
28
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. (1761570)
1991
29
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. (1752947)
1991
30
Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family. (1907278)
1991
31
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. (1872917)
1991
32
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
33
Hepatic lipase activity and high density lipoproteins in familial hypercholesterolemia: adaptational mechanisms for LDL-receptor deficient state. (1966695)
1990
34
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. (2574035)
1989
35
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. (3401291)
1988
36
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. (3630977)
1987
37
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
38
Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency. (6827414)
1983
39
Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives. (6651913)
1983

Genetic Variations for Familial Lipoprotein Lipase Deficiency

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Expression for genes affiliated with Familial Lipoprotein Lipase Deficiency

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

Search GEO for disease gene expression data for Familial Lipoprotein Lipase Deficiency.

Pathways for genes affiliated with Familial Lipoprotein Lipase Deficiency

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53Reactome, 49PharmGKB, 37NCBI BioSystems Database
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Pathways related to Familial Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1LPL, APOC2
2
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9.1LPL, APOC2
3
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9.1LPL, APOC2

Compounds for genes affiliated with Familial Lipoprotein Lipase Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Familial Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trioleoylglycerol449.2APOC2, LPL
2gemfibrozil44 28 1111.1APOC2, LPL
3vitamin a44 11 2411.1APOC2, LPL
4triacylglycerol449.0APOC2, LPL
5sodium dodecylsulfate448.8APOC2, LPL

GO Terms for genes affiliated with Familial Lipoprotein Lipase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:0343619.1LPL, APOC2
2chylomicronGO:0426278.8LPL, APOC2

Biological processes related to Familial Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remodelingGO:0343719.3LPL, APOC2
2very-low-density lipoprotein particle remodelingGO:0343729.3APOC2, LPL
3lipoprotein metabolic processGO:0421579.2APOC2, LPL
4positive regulation of lipoprotein lipase activityGO:0510069.1GPIHBP1, APOC2
5retinoid metabolic processGO:0015239.1LPL, APOC2
6response to drugGO:0424939.1LPL, APOC2
7cholesterol homeostasisGO:0426328.9GPIHBP1, APOC2
8phototransduction, visible lightGO:0076038.8LPL, APOC2
9triglyceride homeostasisGO:0703288.7GPIHBP1, LPL, APOC2

Molecular functions related to Familial Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:0341859.0GPIHBP1, LPL
2lipid bindingGO:0082899.0GPIHBP1, APOC2

Products for genes affiliated with Familial Lipoprotein Lipase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Lipoprotein 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