MCID: FML026
MIFTS: 44

Familial Lipoprotein Lipase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

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Sources:
9Disease Ontology, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 60UMLS, 27ICD9CM, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Familial Lipoprotein Lipase Deficiency, Aliases & Descriptions:

Name: Familial Lipoprotein Lipase Deficiency 9 19 21 11 47
Familial Hyperchylomicronemia 9 41 21 47
Hyperlipoproteinemia Type I 63 41 21 60
Familial Lpl Deficiency 9 63 19 21
Lipoprotein Lipase Deficiency, Familial 63 20 21
Lipase D Deficiency 63 41 21
Familial Fat-Induced Hypertriglyceridemia 63 21
Hyperlipoproteinemia Type 1 41 47
Chylomicronemia Syndrome 41 60
Burger-Grutz Syndrome 63 21
Lipd Deficiency 63 21
Lpl Deficiency 41 47
Familial Lipoprotein Lipase Deficiency with Type I Phenotype 9
Hyperlipemia Idiopathic Burger-Grutz Type 41
Fredrickson Type I Hyperlipoproteinemia 9
Familial Hyperlipo-Proteinemia Type 1 41
 
Familial Hyperlipoproteinemia Type I 9
Hypercholesterinaemic Xanthomatosis 9
Endogenous Hypertriglyceridaemia 21
Hyperlipemia Essential Familial 41
Hyperchylomicronemia, Familial 63
Apolipoprotein C-Ii Deficiency 60
Hyperchylomicro-Nemia Familial 41
Lipoprotein Lipase Deficiency 41
Hyperlipoproteinemia Type Ia 21
Fredrickson Type I Lipaemia 9
Type I Hyperlipoproteinemia 19
Chylomicronemia, Familial 41
Familial Chylomicronemia 41
Mixed Hyperglyceridemia 9
Hyperchylomicronemia 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial hyperchylomicronemia:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:14118
ICD9CM27 272.3
NCIt38 C84771
Orphanet47 411, 309015
MESH via Orphanet34 D008072
ICD10 via Orphanet26 E78.3
UMLS via Orphanet61 C0023817, C1706413

Summaries for Familial Lipoprotein Lipase Deficiency

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NIH Rare Diseases:41 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 familial hyperchylomicronemia, is related to hyperchylomicronemia, late-onset and hypertriglyceridemia. An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (lipoprotein lipase), and among its related pathways are Diseases associated with visual transduction and Lipoprotein metabolism. The compounds trioleoylglycerol and TG(18:2(9Z,12Z)/18:2(9Z,12Z)/18:3(9Z,12Z,15Z))[iso3] have been mentioned in the context of this disorder. 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, resulting in an increase of certain kinds of fats.

GeneReviews summary for lpl

Related Diseases for Familial Lipoprotein Lipase Deficiency

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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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Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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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

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Genetic tests related to Familial Lipoprotein Lipase Deficiency:

id Genetic test Affiliating Genes
1 Familial Lipoprotein Lipase Deficiency20 LPL

Anatomical Context for Familial Lipoprotein Lipase Deficiency

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MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

31
Skin, Spleen, Liver, 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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Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 27)
idTitleAuthorsYear
1
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. (25559420)
2015
2
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. (24680758)
2013
3
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
4
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. (18275685)
2008
5
Familial lipoprotein lipase deficiency]. (17824045)
2007
6
Familial lipoprotein lipase deficiency]. (11347061)
2001
7
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. (11468054)
2001
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
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
15
Familial Lipoprotein Lipase Deficiency (20301485)
1993
16
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (1619366)
1992
17
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
18
Adipose cell size and distribution in familial lipoprotein lipase deficiency. (1330953)
1992
19
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. (1554674)
1992
20
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. (1761570)
1991
21
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. (1752947)
1991
22
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
23
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. (2574035)
1989
24
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. (3401291)
1988
25
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. (3630977)
1987
26
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
27
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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Clinvar genetic disease variations for Familial Lipoprotein Lipase Deficiency:

6 (show all 44)
id Gene Variation 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
36NM_000483.4(APOC2): c.177C> A (p.Tyr59Ter)single nucleotide variantPathogenicrs120074111GRCh37Chr 19, 45452079: 45452079
37APOC2APOC2, 1-BP INSinsertionPathogenic
38APOC2APOC2, 1-BP DELdeletionPathogenic
39APOC2APOC2, IVS2, G-C, +1single nucleotide variantPathogenic
40APOC2APOC2, 1-BP DEL, 2943GdeletionPathogenic
41NM_000483.4(APOC2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs120074112GRCh37Chr 19, 45451736: 45451736
42NM_000483.4(APOC2): c.177C> G (p.Tyr59Ter)single nucleotide variantPathogenicrs120074111GRCh37Chr 19, 45452079: 45452079
43NM_000483.4(APOC2): c.142T> C (p.Trp48Arg)single nucleotide variantPathogenicrs120074115GRCh37Chr 19, 45452044: 45452044
44NM_000483.4(APOC2): c.255C> A (p.Tyr85Ter)single nucleotide variantPathogenicrs120074116GRCh37Chr 19, 45452455: 45452455

Expression for genes affiliated with Familial Lipoprotein Lipase Deficiency

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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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Compounds for genes affiliated with Familial Lipoprotein Lipase Deficiency

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Sources:
43Novoseek, 24HMDB
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Compounds related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 293)
idCompoundScoreTop Affiliating Genes
1trioleoylglycerol4310.0LPL, APOC2
2TG(18:2(9Z,12Z)/18:2(9Z,12Z)/18:3(9Z,12Z,15Z))[iso3]249.9LPL, APOC2
3TG(18:3(9Z,12Z,15Z)/18:1(11Z)/18:3(9Z,12Z,15Z))[iso3]249.9LPL, APOC2
4TG(18:3(9Z,12Z,15Z)/18:1(9Z)/18:3(9Z,12Z,15Z))[iso3]249.9LPL, APOC2
5TG(18:3(9Z,12Z,15Z)/18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]249.9LPL, APOC2
6TG(18:3(9Z,12Z,15Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
7TG(18:2(9Z,12Z)/18:2(9Z,12Z)/18:3(6Z,9Z,12Z))[iso3]249.9APOC2, LPL
8TG(18:2(9Z,12Z)/18:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.9APOC2, LPL
9TG(18:2(9Z,12Z)/16:0/18:3(9Z,12Z,15Z))[iso6]249.9APOC2, LPL
10TG(18:2(9Z,12Z)/16:0/20:2(11Z,14Z))[iso6]249.9LPL, APOC2
11TG(18:2(9Z,12Z)/16:0/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]249.9LPL, APOC2
12TG(18:2(9Z,12Z)/18:1(9Z)/22:4(7Z,10Z,13Z,16Z))[iso6]249.9LPL, APOC2
13TG(18:2(9Z,12Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
14TG(18:3(9Z,12Z,15Z)/18:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
15TG(20:4(5Z,8Z,11Z,14Z)/14:0/20:4(5Z,8Z,11Z,14Z))[iso3]249.9LPL, APOC2
16TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:2(9Z,12Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso3]249.9APOC2, LPL
17TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:2(9Z,12Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
18TG(22:5(7Z,10Z,13Z,16Z,19Z)/20:4(5Z,8Z,11Z,14Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.9LPL, APOC2
19TG(22:5(7Z,10Z,13Z,16Z,19Z)/20:4(5Z,8Z,11Z,14Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
20TG(22:5(7Z,10Z,13Z,16Z,19Z)/20:5(5Z,8Z,11Z,14Z,17Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.9LPL, APOC2
21TG(22:5(7Z,10Z,13Z,16Z,19Z)/20:5(5Z,8Z,11Z,14Z,17Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
22TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.9APOC2, LPL
23TG(20:4(5Z,8Z,11Z,14Z)/16:0/18:3(9Z,12Z,15Z))[iso6]249.9LPL, APOC2
24TG(20:4(5Z,8Z,11Z,14Z)/16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
25TG(20:4(5Z,8Z,11Z,14Z)/18:0/18:3(9Z,12Z,15Z))[iso6]249.9LPL, APOC2
26TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.9LPL, APOC2
27TG(10:0/10:0/10:0)[iso]249.9LPL, APOC2
28TG(16:0/14:0/18:0)[iso6]249.9APOC2, LPL
29TG(16:1(9Z)/16:0/18:3(9Z,12Z,15Z))[iso6]249.8LPL, APOC2
30TG(16:1(9Z)/16:1(9Z)/16:1(9Z))[iso]249.8LPL, APOC2
31TG(16:1(9Z)/18:0/18:1(11Z))[iso6]249.8LPL, APOC2
32TG(18:0/14:0/16:1(9Z))[iso6]249.8LPL, APOC2
33TG(18:0/14:0/18:0)[iso3]249.8LPL, APOC2
34TG(16:0/14:0/16:1(9Z))[iso6]249.8APOC2, LPL
35TG(15:0/16:0/20:2(11Z,14Z))[iso6]249.8LPL, APOC2
36TG(15:0/20:0/14:1(9Z))[iso6]249.8LPL, APOC2
37TG(15:0/20:1(11Z)/14:0)[iso6]249.8LPL, APOC2
38TG(16:0/14:0/16:0)[iso3]249.8LPL, APOC2
39TG(18:1(11Z)/16:0/18:2(9Z,12Z))[iso3]249.8LPL, APOC2
40TG(18:1(9Z)/18:1(11Z)/18:1(9Z))[iso3]249.7LPL, APOC2
41TG(18:1(9Z)/18:1(11Z)/18:2(9Z,12Z))[iso6]249.7LPL, APOC2
42TG(18:1(9Z)/18:1(9Z)/18:1(9Z))[iso]249.7LPL, APOC2
43TG(18:2(9Z,12Z)/14:0/18:3(9Z,12Z,15Z))[iso6]249.7LPL, APOC2
44TG(18:2(9Z,12Z)/14:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.6LPL, APOC2
45TG(18:1(9Z)/18:0/18:3(9Z,12Z,15Z))[iso6]249.6APOC2, LPL
46TG(18:1(11Z)/16:0/18:3(9Z,12Z,15Z))[iso6]249.6LPL, APOC2
47TG(18:1(11Z)/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.5LPL, APOC2
48TG(18:1(9Z)/16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.5LPL, APOC2
49TG(18:1(11Z)/16:1(9Z)/18:1(11Z))[iso3]249.4LPL, APOC2
50TG(18:1(11Z)/16:1(9Z)/18:1(9Z))[iso6]249.2LPL, APOC2

GO Terms for genes affiliated with Familial Lipoprotein Lipase Deficiency

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Cellular components related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:00343619.5LPL, APOC2
2chylomicronGO:00426279.2LPL, APOC2

Biological processes related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remodelingGO:00343719.6LPL, APOC2
2very-low-density lipoprotein particle remodelingGO:00343729.6APOC2, LPL
3lipoprotein metabolic processGO:00421579.5LPL, APOC2
4phototransduction, visible lightGO:00076039.5LPL, APOC2
5retinoid metabolic processGO:00015239.4LPL, APOC2
6chylomicron remnant clearanceGO:00343829.2LMF1, APOC2
7triglyceride homeostasisGO:00703289.1GPIHBP1, APOC2, LPL
8cholesterol homeostasisGO:00426329.0APOC2, GPIHBP1
9positive regulation of lipoprotein lipase activityGO:00510068.7LMF1, APOC2, GPIHBP1

Molecular functions related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lipid bindingGO:00082899.3APOC2, GPIHBP1

Products for genes affiliated with Familial Lipoprotein Lipase Deficiency

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Sources for Familial Lipoprotein Lipase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet