MCID: FML026
MIFTS: 51

Familial Lipoprotein Lipase Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Familial Lipoprotein Lipase Deficiency

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Hyperlipoproteinemia type 1Ā 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.Ā mutations in the lpl gene causeĀ 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 hyperlipoproteinemia type i, is related to pancreatitis and hyperlipoproteinemia type v. An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (lipoprotein lipase). The drugs fish oils and coenzyme q10 have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and liver.

Wikipedia:66 Lipoprotein lipase (LPL) (EC 3.1.1.34) is a member of the lipase gene family, which includes pancreatic... more...

Description from OMIM:48 238600

GeneReviews summary for lpl

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 28ICD9CM, 41NCIt, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

familial lipoprotein lipase deficiency 9 20 22 11 50
hyperlipoproteinemia type i 66 44 22 63
familial lpl deficiency 9 66 20 22
lipoprotein lipase deficiency, familial 66 21 22
lipase d deficiency 66 44 22
familial fat-induced hypertriglyceridemia 66 22
hyperchylomicronemia, familial 66 22
lipoprotein lipase deficiency 44 48
hyperlipoproteinemia type 1 44 23
chylomicronemia syndrome 44 63
burger-grutz syndrome 66 22
lipd deficiency 66 22
lpl deficiency 44 50
familial lipoprotein lipase deficiency with type i phenotype 9
hyperlipemia idiopathic burger-grutz type 44
fredrickson type i hyperlipoproteinemia 9
familial hyperlipo-proteinemia type 1 44
familial hyperlipoproteinemia type i 9
hypercholesterinaemic xanthomatosis 9
hyperlipemia essential familial 44
secondary hypertriglyceridemia 63
hyperchylomicro-nemia familial 44
familial hyperchylomicronemia 9
hyperlipoproteinemia type ia 63
fredrickson type i lipaemia 9
type i hyperlipoproteinemia 20
chylomicronemia, familial 44
familial chylomicronemia 44
mixed hyperglyceridemia 9
hyperchylomicronemia 9
hyperlipidemia 63


External Ids:

Disease Ontology9 DOID:14118
ICD9CM28 272.3
NCIt41 C84771
OMIM48 238600
SNOMED-CT via Orphanet60 238086005, 403827000, 275598004
ICD10 via Orphanet27 E78.3

Related Diseases for Familial Lipoprotein Lipase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Familial Lipoprotein Lipase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis30.6LPL, GPIHBP1
2hyperlipoproteinemia type v30.4LPL
3endotheliitis10.4
4hepatitis10.3
5obesity10.3
6hypertriglyceridemia10.3
7acute pancreatitis10.2
8familial hypertriglyceridemia10.2
9biotinidase deficiency10.2
10pancytopenia10.2
11kidney disease10.2
12thrombocytopenia10.2
13lipase deficiency combined10.2
14hypercholesterolemia10.2
15urticaria10.2
16apolipoprotein c-ii deficiency10.2
17hyperlipoproteinemia, type ib10.1
18diabetes mellitus10.1
19insulin resistance10.1
20hypoglycemia10.1
21atherosclerosis10.1

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



Diseases related to familial lipoprotein lipase deficiency

Symptoms for Familial Lipoprotein Lipase Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

238600

Clinical features from OMIM:

238600

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Familial Lipoprotein Lipase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Familial Lipoprotein Lipase Deficiency:

id Genetic test Affiliating Genes
1 Familial Lipoprotein Lipase Deficiency21 LPL
2 Hyperlipoproteinemia, Type I23

Anatomical Context for Familial Lipoprotein Lipase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

34
Skin, Spleen, Liver, Pancreas, Endothelial

Animal Models for Familial Lipoprotein Lipase Deficiency or affiliated genes

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Publications for Familial Lipoprotein Lipase Deficiency

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53PubMed
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Articles related to Familial Lipoprotein Lipase Deficiency:

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

Variations for Familial Lipoprotein Lipase Deficiency

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Familial Lipoprotein Lipase Deficiency:

65 (show all 68)
id Symbol AA change Variation ID SNP ID
1LPLp.Arg102SerVAR_004211
2LPLp.Trp113GlyVAR_004212
3LPLp.Trp113ArgVAR_004213
4LPLp.His163ArgVAR_004214
5LPLp.Gly169GluVAR_004215
6LPLp.Gly181SerVAR_004216
7LPLp.Asp183GlyVAR_004217
8LPLp.Asp183AsnVAR_004218
9LPLp.Pro184ArgVAR_004219
10LPLp.Ala185ThrVAR_004220
11LPLp.Ser199CysVAR_004221
12LPLp.Ala203ThrVAR_004222
13LPLp.Asp207GluVAR_004223
14LPLp.His210GlnVAR_004224
15LPLp.Gly215GluVAR_004225
16LPLp.Ser220ArgVAR_004226
17LPLp.Ile221ThrVAR_004227
18LPLp.Gly222GluVAR_004228
19LPLp.Asp231GluVAR_004229
20LPLp.Ile232SerVAR_004230
21LPLp.Pro234LeuVAR_004231
22LPLp.Cys243SerVAR_004232
23LPLp.Arg270HisVAR_004233
24LPLp.Ser271ThrVAR_004234rs28934893
25LPLp.Asp277AsnVAR_004235
26LPLp.Ser278CysVAR_004236
27LPLp.Ser286GlyVAR_004237
28LPLp.Ser286ArgVAR_004238
29LPLp.Asn318SerVAR_004239rs268
30LPLp.Met328ThrVAR_004240
31LPLp.Leu330ProVAR_004241
32LPLp.Ala361ThrVAR_004242
33LPLp.Leu392ValVAR_004243
34LPLp.Glu437LysVAR_004245
35LPLp.Glu437ValVAR_004246
36LPLp.Asp36AsnVAR_011948rs1801177
37LPLp.Asn70SerVAR_057914
38LPLp.Val96LeuVAR_057915
39LPLp.Ala98ThrVAR_057916
40LPLp.Thr128AlaVAR_057917
41LPLp.Gly132ArgVAR_057918
42LPLp.Gly181ValVAR_057919
43LPLp.Asp183HisVAR_057920
44LPLp.Gly186GluVAR_057921
45LPLp.Glu190GlyVAR_057922
46LPLp.Asp201ValVAR_057923
47LPLp.Val208IleVAR_057924
48LPLp.His210AspVAR_057925
49LPLp.Gly215ArgVAR_057926
50LPLp.Lys225ArgVAR_057927
51LPLp.Val227AlaVAR_057928
52LPLp.Ile252ThrVAR_057929
53LPLp.Cys266TrpVAR_057930
54LPLp.Arg270CysVAR_057931
55LPLp.Leu279ArgVAR_057932rs35414700
56LPLp.Leu279ValVAR_057933
57LPLp.Tyr289HisVAR_057934
58LPLp.Phe297LeuVAR_057935
59LPLp.Leu303PheVAR_057936
60LPLp.Cys305ArgVAR_057937
61LPLp.Cys310TyrVAR_057938
62LPLp.Leu313ProVAR_057939
63LPLp.Ser325ArgVAR_057940
64LPLp.Met328ArgVAR_057941
65LPLp.Leu330PheVAR_057942
66LPLp.Ser365PheVAR_057943
67LPLp.Cys445TyrVAR_057944
68LPLp.Glu448LysVAR_057945

Clinvar genetic disease variations for Familial Lipoprotein Lipase Deficiency:

1 (show all 35)
id Gene Name Type Significance SNP ID Assembly Location
1LPLNM_000237.2(LPL): c.607G> A (p.Ala203Thr)single nucleotide variantPathogenicrs118204056GRCh37Chr 8, 19811696: 19811696
2LPLLPL, INSinsertionPathogenic
3LPLnsv513798duplicationPathogenic
4LPLNM_000237.2(LPL): c.644G> A (p.Gly215Glu)single nucleotide variantPathogenicrs118204057GRCh37Chr 8, 19811733: 19811733
5LPLLPL, 6-KB DELdeletionPathogenic
6LPLNM_000237.2(LPL): c.397C> T (p.Gln133Ter)single nucleotide variantPathogenicrs118204058GRCh37Chr 8, 19809427: 19809427
7LPLNM_000237.2(LPL): c.811T> A (p.Ser271Thr)single nucleotide variantPathogenicrs118204059GRCh37Chr 8, 19813387: 19813387
8LPLLPL, IVS2DS, G-Asingle nucleotide variantPathogenic
9LPLNM_000237.2(LPL): c.701C> T (p.Pro234Leu)single nucleotide variantPathogenicrs118204060GRCh37Chr 8, 19811790: 19811790
10LPLNM_000237.2(LPL): c.693C> G (p.Asp231Glu)single nucleotide variantPathogenicrs118204067GRCh37Chr 8, 19811782: 19811782
11LPLNM_000237.2(LPL): c.662T> C (p.Ile221Thr)single nucleotide variantPathogenicrs118204061GRCh37Chr 8, 19811751: 19811751
12LPLNM_000237.2(LPL): c.809G> A (p.Arg270His)single nucleotide variantPathogenicrs118204062GRCh37Chr 8, 19813385: 19813385
13LPLNM_000237.2(LPL): c.300C> A (p.Tyr100Ter)single nucleotide variantPathogenicrs118204074GRCh37Chr 8, 19809330: 19809330
14LPLNM_000237.2(LPL): c.506G> A (p.Gly169Glu)single nucleotide variantPathogenicrs118204063GRCh37Chr 8, 19810897: 19810897
15LPLNM_000237.2(LPL): c.548A> G (p.Asp183Gly)single nucleotide variantPathogenicrs118204064GRCh37Chr 8, 19811637: 19811637
16LPLLPL, IVS2DS, G-A, +1single nucleotide variantPathogenic
17LPLNM_000237.2(LPL): c.264T> A (p.Tyr88Ter)single nucleotide variantPathogenicrs118204065GRCh37Chr 8, 19809294: 19809294
18LPLNM_000237.2(LPL): c.1227G> A (p.Trp409Ter)single nucleotide variantPathogenicrs118204066GRCh37Chr 8, 19818499: 19818499
19LPLLPL, 1-BP DEL, 916GdeletionPathogenic
20LPLNM_000237.2(LPL): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs118204068GRCh37Chr 8, 19813405: 19813405
21LPLNM_000237.2(LPL): c.337T> C (p.Trp113Arg)single nucleotide variantPathogenicrs118204069GRCh37Chr 8, 19809367: 19809367
22LPLNM_000237.2(LPL): c.272G> A (p.Trp91Ter)single nucleotide variantPathogenicrs118204070GRCh37Chr 8, 19809302: 19809302
23LPLLPL, IVS1, G-C, +1single nucleotide variantPathogenic
24LPLNM_000237.2(LPL): c.1081G> A (p.Ala361Thr)single nucleotide variantPathogenicrs118204071GRCh37Chr 8, 19816833: 19816833
25LPLNM_000237.2(LPL): c.596C> G (p.Ser199Cys)single nucleotide variantPathogenicrs118204072GRCh37Chr 8, 19811685: 19811685
26LPLNM_000237.2(LPL): c.306A> C (p.Arg102Ser)single nucleotide variantPathogenicrs118204073GRCh37Chr 8, 19809336: 19809336
27LPLNM_000237.2(LPL): c.665G> A (p.Gly222Glu)single nucleotide variantPathogenicrs118204075GRCh37Chr 8, 19811754: 19811754
28LPLNM_000237.2(LPL): c.621C> G (p.Asp207Glu)single nucleotide variantPathogenicrs118204076GRCh37Chr 8, 19811710: 19811710
29LPLNM_000237.2(LPL): c.808C> T (p.Arg270Cys)single nucleotide variantPathogenicrs118204077GRCh37Chr 8, 19813384: 19813384
30LPLNM_000237.2(LPL): c.1174C> G (p.Leu392Val)single nucleotide variantPathogenicrs118204078GRCh37Chr 8, 19818446: 19818446
31LPLNM_000237.2(LPL): c.1334G> A (p.Cys445Tyr)single nucleotide variantPathogenicrs118204079GRCh37Chr 8, 19819637: 19819637
32LPLNM_000237.2(LPL): c.755T> C (p.Ile252Thr)single nucleotide variantPathogenicrs118204080GRCh37Chr 8, 19811844: 19811844
33LPLNM_000237.2(LPL): c.987C> A (p.Tyr329Ter)single nucleotide variantPathogenicrs118204081GRCh37Chr 8, 19813563: 19813563
34LPLNM_000237.2(LPL): c.798C> G (p.Cys266Trp)single nucleotide variantPathogenicrs118204082GRCh37Chr 8, 19813374: 19813374
35LPLLPL, 1-BP DEL, CODON 172deletionPathogenic

Expression for genes affiliated with Familial Lipoprotein Lipase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Lipoprotein Lipase Deficiency

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Pathways for genes affiliated with Familial Lipoprotein Lipase Deficiency

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Compounds for genes affiliated with Familial Lipoprotein Lipase Deficiency

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GO Terms for genes affiliated with Familial Lipoprotein Lipase Deficiency

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17Gene Ontology
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Biological processes related to Familial Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1triglyceride homeostasisGO:0703289.0LPL, GPIHBP1

Products for genes affiliated with Familial Lipoprotein Lipase Deficiency

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  • Antibodies
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Sources for Familial Lipoprotein Lipase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet