MCID: FML026
MIFTS: 48

Familial Lipoprotein Lipase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Familial Lipoprotein Lipase Deficiency

About this section


Fully expand this MalaCard
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 based summary: Familial Lipoprotein Lipase Deficiency, also known as lipoprotein lipase deficiency, familial, is related to pancreatitis and hyperlipoproteinemia type v, and has symptoms including An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (lipoprotein lipase). Affiliated tissues include skin, spleen and liver.

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.

Wikipedia:65 Lipoprotein lipase (LPL) (EC 3.1.1.34) is a member of the lipase gene family, which includes pancreatic... more...

Description from OMIM:46 238600

GeneReviews summary for lpl

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

About this section

Familial Lipoprotein Lipase Deficiency, Aliases & Descriptions:

Name: Familial Lipoprotein Lipase Deficiency 8 19 21 10 48
Lipoprotein Lipase Deficiency, Familial 65 20 21 62
Hyperlipoproteinemia Type I 65 42 21 62
Familial Lpl Deficiency 8 65 19 21
Lipoprotein Lipase Deficiency 42 46 62
Lipase D Deficiency 65 42 21
Familial Lipoprotein Lipase Deficiency with Type I Phenotype 8 62
Familial Fat-Induced Hypertriglyceridemia 65 21
Familial Hyperlipoproteinemia Type I 8 62
Hypercholesterinaemic Xanthomatosis 8 62
Hyperchylomicronemia, Familial 65 21
Hyperlipoproteinemia Type 1 42 22
Chylomicronemia Syndrome 42 62
Burger-Grutz Syndrome 65 21
Lipd Deficiency 65 21
Lpl Deficiency 42 48
 
Familial Fat-Induced Hypertriglyceridaemia 62
Hyperlipemia Idiopathic Burger-Grutz Type 42
Fredrickson Type I Hyperlipoproteinaemia 62
Fredrickson Type I Hyperlipoproteinemia 8
Familial Hyperlipo-Proteinemia Type 1 42
Hyperlipemia Essential Familial 42
Hyperchylomicro-Nemia Familial 42
Familial Hyperchylomicronaemia 62
Familial Hyperchylomicronemia 8
Hyperlipoproteinemia Type Ia 62
Fredrickson Type I Lipaemia 8
Type I Hyperlipoproteinemia 19
Chylomicronemia, Familial 42
Familial Chylomicronemia 42
Mixed Hyperglyceridemia 8
Hyperchylomicronemia 8


Classifications:



External Ids:

Disease Ontology8 DOID:14118
OMIM46 238600
ICD9CM27 272.3
NCIt39 C84771
ICD10 via Orphanet26 E78.3

Related Diseases for Familial Lipoprotein Lipase Deficiency

About this section

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

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis30.6LPL, GPIHBP1
2hyperlipoproteinemia type v30.4LPL
3hypertriglyceridemia10.4
4lipase deficiency combined10.4
5endotheliitis10.4
6hepatitis10.3
7obesity10.3
8acute pancreatitis10.3
9familial hypertriglyceridemia10.2
10ischemic heart disease10.2
11thrombocytopenia10.2
12biotinidase deficiency10.2
13pancytopenia10.2
14kidney disease10.2
15hypercholesterolemia10.2
16urticaria10.2
17apolipoprotein c-ii deficiency10.2
18hyperlipoproteinemia, type ib10.2
19diabetes mellitus10.1
20insulin resistance10.1
21atherosclerosis10.1
22hypoglycemia10.1

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

About this section

Symptoms by clinical synopsis from OMIM:

238600

Clinical features from OMIM:

238600

HPO human phenotypes related to Familial Lipoprotein Lipase Deficiency:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 lipemia retinalis HP:0000660
3 jaundice HP:0000952
4 eruptive xanthomas HP:0001013
5 hepatosplenomegaly HP:0001433
6 abnormality of the cardiovascular system HP:0001626
7 pancreatitis HP:0001733
8 splenomegaly HP:0001744
9 vomiting HP:0002013
10 nausea HP:0002018
11 episodic abdominal pain HP:0002574
12 hyperlipidemia HP:0003077
13 hypercholesterolemia HP:0003124
14 hyperchylomicronemia HP:0012238

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Familial Lipoprotein Lipase Deficiency

Search NIH Clinical Center for Familial Lipoprotein Lipase Deficiency

Genetic Tests for Familial Lipoprotein Lipase Deficiency

About this section

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

About this section

MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

32
Skin, Spleen, Liver, Pancreas, Endothelial

Animal Models for Familial Lipoprotein Lipase Deficiency or affiliated genes

About this section

Publications for Familial Lipoprotein Lipase Deficiency

About this section

Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 26)
idTitleAuthorsYear
1
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. (24680758)
2013
2
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
3
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. (18275685)
2008
4
Familial lipoprotein lipase deficiency]. (17824045)
2007
5
Familial lipoprotein lipase deficiency]. (11347061)
2001
6
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. (11468054)
2001
7
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. (10342813)
1999
8
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. (10199753)
1999
9
Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. (10400113)
1999
10
A gene analysis of familial lipoprotein lipase deficiency in China]. (10431049)
1999
11
Familial lipoprotein lipase deficiency]. (9645014)
1998
12
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. (9738727)
1998
13
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
14
Familial Lipoprotein Lipase Deficiency (20301485)
1993
15
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (1619366)
1992
16
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
17
Adipose cell size and distribution in familial lipoprotein lipase deficiency. (1330953)
1992
18
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. (1554674)
1992
19
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. (1761570)
1991
20
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. (1752947)
1991
21
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
22
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. (2574035)
1989
23
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. (3401291)
1988
24
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. (3630977)
1987
25
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
26
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

About this section

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

64 (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:

6 (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

About this section
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

About this section

Compounds for genes affiliated with Familial Lipoprotein Lipase Deficiency

About this section

GO Terms for genes affiliated with Familial Lipoprotein Lipase Deficiency

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Lipoprotein Lipase Deficiency

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet