MCID: APP012
MIFTS: 17

Apoe P.leu167del-Related Lipid Disorders

Aliases & Classifications for Apoe P.leu167del-Related Lipid Disorders

MalaCards integrated aliases for Apoe P.leu167del-Related Lipid Disorders:

Name: Apoe P.leu167del-Related Lipid Disorders 24

Characteristics:

GeneReviews:

24
Penetrance To date the apoe p.leu167del variant has been found only in families with hyperlipidemia. among the 38 people described with this allele, only one (a girl age 14 years) had a normal lipoprotein profile with ldl cholesterol at the 75th percentile for age and sex.

Summaries for Apoe P.leu167del-Related Lipid Disorders

MalaCards based summary : Apoe P.leu167del-Related Lipid Disorders is related to hypertriglyceridemia, familial and lipid metabolism disorder. An important gene associated with Apoe P.leu167del-Related Lipid Disorders is APOE (Apolipoprotein E), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

GeneReviews: NBK208534

Related Diseases for Apoe P.leu167del-Related Lipid Disorders

Graphical network of the top 20 diseases related to Apoe P.leu167del-Related Lipid Disorders:



Diseases related to Apoe P.leu167del-Related Lipid Disorders

Symptoms & Phenotypes for Apoe P.leu167del-Related Lipid Disorders

GenomeRNAi Phenotypes related to Apoe P.leu167del-Related Lipid Disorders according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.96 APOE LPL
2 Increased LDL uptake GR00340-A-1 8.62 APOE LPL

Drugs & Therapeutics for Apoe P.leu167del-Related Lipid Disorders

Search Clinical Trials , NIH Clinical Center for Apoe P.leu167del-Related Lipid Disorders

Genetic Tests for Apoe P.leu167del-Related Lipid Disorders

Anatomical Context for Apoe P.leu167del-Related Lipid Disorders

MalaCards organs/tissues related to Apoe P.leu167del-Related Lipid Disorders:

41
Heart

Publications for Apoe P.leu167del-Related Lipid Disorders

Articles related to Apoe P.leu167del-Related Lipid Disorders:

(show all 15)
# Title Authors PMID Year
1
2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. 4
24239923 2014
2
APOE p.Leu167del mutation in familial hypercholesterolemia. 4
24267230 2013
3
Inherited lipemic splenomegaly and the spectrum of apolipoprotein E p.Leu167del mutation phenotypic variation. 4
24314356 2013
4
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. 4
22949395 2013
5
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. 4
22481068 2012
6
An unusual case of severe hypertriglyceridemia and splenomegaly. 4
18310149 2008
7
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation. 4
16094309 2005
8
Pregnancy outcomes after maternal exposure to simvastatin and lovastatin. 4
16163683 2005
9
Nomogram to diagnose familial combined hyperlipidemia on the basis of results of a 5-year follow-up study. 4
15184285 2004
10
Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. 4
11882522 2002
11
Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. 4
11095479 2000
12
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. 4
9343467 1997
13
Population-based frequency of dyslipidemia syndromes in coronary-prone families in Utah. 4
2310276 1990
14
The syndrome of the sea-blue histiocyte. 4
4242937 1970
15
APOE p.Leu167del-Related Lipid Disorders 38
24921113 2014

Variations for Apoe P.leu167del-Related Lipid Disorders

Expression for Apoe P.leu167del-Related Lipid Disorders

Search GEO for disease gene expression data for Apoe P.leu167del-Related Lipid Disorders.

Pathways for Apoe P.leu167del-Related Lipid Disorders

Pathways related to Apoe P.leu167del-Related Lipid Disorders according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 LPL APOE
2
Show member pathways
11.69 LPL APOE
3
Show member pathways
11.29 LPL APOE
4
Show member pathways
10.7 LPL APOE

GO Terms for Apoe P.leu167del-Related Lipid Disorders

Cellular components related to Apoe P.leu167del-Related Lipid Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 very-low-density lipoprotein particle GO:0034361 8.96 LPL APOE
2 chylomicron GO:0042627 8.62 LPL APOE

Biological processes related to Apoe P.leu167del-Related Lipid Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.4 LPL APOE
2 cholesterol homeostasis GO:0042632 9.37 LPL APOE
3 triglyceride metabolic process GO:0006641 9.32 LPL APOE
4 triglyceride homeostasis GO:0070328 9.26 LPL APOE
5 triglyceride catabolic process GO:0019433 9.16 LPL APOE
6 very-low-density lipoprotein particle remodeling GO:0034372 8.96 LPL APOE
7 chylomicron remodeling GO:0034371 8.62 LPL APOE

Molecular functions related to Apoe P.leu167del-Related Lipid Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.62 LPL APOE

Sources for Apoe P.leu167del-Related Lipid Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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