MCID: FML026
MIFTS: 50

Familial Lipoprotein Lipase Deficiency malady

Genetic category

Summaries for Familial Lipoprotein Lipase Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 lipoprotein lipase deficiency and hypercholesterolemia. 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:47 238600

GeneReviews summary for lpl

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 57SNOMED-CT, 35MeSH, 47OMIM, 27ICD9CM, 40NCIt
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Classifications:

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


Aliases & Descriptions:

familial lipoprotein lipase deficiency 8 19 21 10
familial lpl deficiency 8 64 19 21
lipoprotein lipase deficiency, familial 64 20 21
hyperlipoproteinemia type i 64 21 61
familial fat-induced hypertriglyceridemia 64 21
hyperchylomicronemia, familial 64 21
hyperlipoproteinemia type 1 43 22
chylomicronemia syndrome 43 61
burger-grutz syndrome 64 21
lipase d deficiency 64 21
lipd deficiency 64 21
familial lipoprotein lipase deficiency with type i phenotype 8
hyperlipemia idiopathic burger-grutz type 43
fredrickson type i hyperlipoproteinemia 8
familial hyperlipo-proteinemia type 1 43
familial hyperlipoproteinemia type i 8
hypercholesterinaemic xanthomatosis 8
hyperlipemia essential familial 43
secondary hypertriglyceridemia 61
hyperchylomicro-nemia familial 43
familial hyperchylomicronemia 8
hyperlipoproteinemia type ia 61
fredrickson type i lipaemia 8
type i hyperlipoproteinemia 19
chylomicronemia, familial 43
familial chylomicronemia 43
mixed hyperglyceridemia 8
hyperchylomicronemia 8
lpl deficiency 43
hyperlipidemia 61


External Ids:

Disease Ontology8 DOID:14118
OMIM47 238600
ICD9CM27 272.3
NCIt40 C84771

Related Diseases for Familial Lipoprotein Lipase Deficiency

Sources:
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 153)
idRelated DiseaseScoreTop Affiliating Genes
1lipoprotein lipase deficiency31.4LPL
2hypercholesterolemia30.7LPL, APOC2
3acute pancreatitis30.4APOC2, LPL
4hypertriglyceridemia30.3APOC2, LPL
5familial hypertriglyceridemia30.3APOC2, LPL
6hyperlipoproteinemia type v30.3APOC2, LPL
7glucose intolerance30.2APOC2, LPL
8pancreatitis, chronic30.0APOC2, LPL
9vascular disease29.9APOC2, LPL
10familial combined hyperlipidemia11.1
11insulin resistance10.6
12familial hypercholesterolemia10.4
13lip disease10.4
14coronary heart disease10.4
15coronary artery disease,10.3
16n syndrome10.3
17hepatic lipase deficiency10.3
18hyperlipidemia type 310.2
19xanthomatosis10.2
20nephrosis10.2
21urticaria10.1
22hyperhomocysteinemia10.1
23hyperlipidemia, combined, 210.1
24hyperlipoproteinemia, type ib10.1
25atherosclerosis10.1
26stroke, ischemic10.1
27apo a-i deficiency10.1
28familial hypertension10.1
29glycogen storage disease type 1a10.1
30recurrent acute pancreatitis10.1
31protein s deficiency10.0
32hypoglycemia10.0
33t cell deficiency10.0
34diabetic nephropathy10.0
35focal segmental glomerulosclerosis10.0
36major depressive disorder10.0
37hyperphosphatemia10.0
38fatty liver disease10.0
39focal glomerulosclerosis10.0
40acute leukemia10.0
41fish-eye disease10.0
42griscelli syndrome type 110.0
43mandibuloacral dysplasia with type b lipodystrophy10.0
44cardiovascular disease risk factor10.0
45m�ni�re disease10.0
46analbuminemia10.0
47hyperalphalipoproteinemia10.0
48hyperlipidemia due to hepatic triglyceride lipase deficiency10.0
49abetalipoproteinemia10.0LPL
50familial hyperlipidemia10.0LPL, APOC2

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

Sources:
47OMIM
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Clinical features from OMIM:

238600

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Lipoprotein Lipase Deficiency

Search CenterWatch for Familial Lipoprotein Lipase Deficiency

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Familial Lipoprotein Lipase Deficiency

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

33
Skin, Liver, Spleen, Pancreas

Animal Models for Familial Lipoprotein Lipase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Lipoprotein Lipase Deficiency

Sources:
51PubMed
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Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 32)
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
Lipoprotein lipase deficiency, familial]. (11528646)
2001
5
Familial lipoprotein lipase deficiency]. (11347061)
2001
6
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. (11468054)
2001
7
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. (11068186)
2000
8
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. (10342813)
1999
9
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. (10199753)
1999
10
Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. (10400113)
1999
11
A gene analysis of familial lipoprotein lipase deficiency in China]. (10431049)
1999
12
Familial lipoprotein lipase deficiency]. (9645014)
1998
13
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. (9738727)
1998
14
Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. (9401010)
1997
15
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
16
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
17
Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency. (8097805)
1993
18
Familial Lipoprotein Lipase Deficiency (20301485)
1993
19
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (1619366)
1992
20
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
21
Adipose cell size and distribution in familial lipoprotein lipase deficiency. (1330953)
1992
22
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. (1554674)
1992
23
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. (1761570)
1991
24
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. (1752947)
1991
25
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
26
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
27
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. (2574035)
1989
28
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. (3401291)
1988
29
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. (3630977)
1987
30
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
31
Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency. (6827414)
1983
32
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

Expression for genes affiliated with Familial Lipoprotein Lipase Deficiency

Sources:
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

Sources:
54Reactome, 50PharmGKB, 38NCBI 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
Hide members
9.1LPL, APOC2
3
Hide members
9.1LPL, APOC2

Compounds for genes affiliated with Familial Lipoprotein Lipase Deficiency

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Familial Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trioleoylglycerol459.2LPL, APOC2
2gemfibrozil45 29 1111.1LPL, APOC2
3vitamin a45 11 2411.1LPL, APOC2
4triacylglycerol459.0APOC2, LPL
5sodium dodecylsulfate458.8LPL, APOC2

GO Terms for genes affiliated with Familial Lipoprotein Lipase Deficiency

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Lipoprotein Lipase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet