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LPG
MCID: LPP002
MIFTS: 44

Lipoprotein Glomerulopathy (LPG)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Lipoprotein Glomerulopathy

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MalaCards integrated aliases for Lipoprotein Glomerulopathy:

Name: Lipoprotein Glomerulopathy 57 59 74 37 29 13 6 40 72
Lpg 57 59 74

Characteristics:

Orphanet epidemiological data:

59
lipoprotein glomerulopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

OMIM 57 611771
KEGG 37 H00887
ICD10 via Orphanet 34 N07.8
UMLS via Orphanet 73 C2673196
Orphanet 59 ORPHA329481
MedGen 42 C2673196
UMLS 72 C2673196
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Summaries for Lipoprotein Glomerulopathy

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OMIM : 57 Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians. (611771)

MalaCards based summary : Lipoprotein Glomerulopathy, also known as lpg, is related to hypertriglyceridemia, familial and hyperlipoproteinemia, type iii. An important gene associated with Lipoprotein Glomerulopathy is APOE (Apolipoprotein E), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include kidney and endothelial, and related phenotypes are renal insufficiency and proteinuria

KEGG : 37
Lipoprotein glomerulopathy is a rare hereditary disorder characterized by disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually present with proteinuria and hypertension, microhematuria is rare, and renal function becomes impaired. Rare mutations in apolipoprotein E (apoE) gene may contribute to the pathogenesis of the disease.

UniProtKB/Swiss-Prot : 74 Lipoprotein glomerulopathy: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.

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Related Diseases for Lipoprotein Glomerulopathy

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Diseases related to Lipoprotein Glomerulopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 30.8 APOE APOB
2 hyperlipoproteinemia, type iii 29.7 LPA LDLR APOE APOB
3 atherosclerosis susceptibility 29.4 LPA LDLR APOE APOB
4 kidney disease 29.1 LPA LCAT APOE
5 lipid metabolism disorder 28.5 LPA LDLR LCAT APOE APOB
6 familial hyperlipidemia 28.4 LPA LDLR LCAT APOE APOB
7 nephrotic syndrome 10.7
8 kala-azar 1 10.4
9 leishmaniasis 10.4
10 glomerular disease 10.3
11 xanthoma disseminatum 10.3 APOE APOB
12 hyperlipoproteinemia, type v 10.3 APOE APOB
13 hypercholesterolemia, familial, 1 10.3
14 hypobetalipoproteinemia, familial, 2 10.2 LPA APOB
15 graft-versus-host disease 10.2
16 trichoepithelioma, multiple familial, 1 10.1
17 trichoepithelioma, multiple familial, 2 10.1
18 hearing loss, noise-induced 10.1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 systemic scleroderma 10.1
21 localized scleroderma 10.1
22 cutaneous leishmaniasis 10.1
23 obsolete: atypical teratoid/rhabdoid tumor 10.1
24 hyperlipoproteinemia, type iv 10.1 APOB APOA2
25 coronary stenosis 10.1 APOE APOB
26 smith-lemli-opitz syndrome 10.1 LDLR APOE
27 malignant hypertension 10.1
28 glomerulonephritis 10.1
29 iga glomerulonephritis 10.1
30 uremia 10.1
31 end stage renal failure 10.1
32 chronic graft versus host disease 10.1
33 posttransplant acute limbic encephalitis 10.1
34 gallbladder disease 10.0 APOE APOB
35 exfoliation syndrome 10.0 CLU APOE
36 amyloidosis, familial visceral 10.0 LPA APOA2
37 huntington disease-like 1 9.9 LPA APOE APOB
38 autoimmune disease 9.9
39 systemic lupus erythematosus 9.9
40 neurofibromatosis, type i 9.9
41 neurofibromatosis, type iv, of riccardi 9.9
42 microvascular complications of diabetes 3 9.9
43 microvascular complications of diabetes 4 9.9
44 microvascular complications of diabetes 6 9.9
45 microvascular complications of diabetes 7 9.9
46 membranous nephropathy 9.9
47 leukemia, acute lymphoblastic 3 9.9
48 deficiency anemia 9.9
49 autosomal recessive disease 9.9
50 renal hypertension 9.9

Graphical network of the top 20 diseases related to Lipoprotein Glomerulopathy:



Diseases related to Lipoprotein Glomerulopathy
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Symptoms & Phenotypes for Lipoprotein Glomerulopathy

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Human phenotypes related to Lipoprotein Glomerulopathy:

32
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 proteinuria 32 HP:0000093
3 glomerulopathy 32 HP:0100820
4 mesangial hypercellularity 32 HP:0012574

Clinical features from OMIM:

611771

GenomeRNAi Phenotypes related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 APOB APOE LDLR LPA
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Lipoprotein Glomerulopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 APOB APOE CLU LCAT LDLR
2 homeostasis/metabolism MP:0005376 9.63 APOA2 APOB APOE CLU LCAT LDLR
3 liver/biliary system MP:0005370 9.26 APOB APOE LCAT LDLR
4 pigmentation MP:0001186 8.8 APOB APOE LDLR
Sources

Drugs & Therapeutics for Lipoprotein Glomerulopathy

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Immunoadsorption for Patients With Lipoprotein Completed NCT00302510

Search NIH Clinical Center for Lipoprotein Glomerulopathy

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Genetic Tests for Lipoprotein Glomerulopathy

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Genetic tests related to Lipoprotein Glomerulopathy:

# Genetic test Affiliating Genes
1 Lipoprotein Glomerulopathy 29 APOE
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Anatomical Context for Lipoprotein Glomerulopathy

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MalaCards organs/tissues related to Lipoprotein Glomerulopathy:

41
Kidney, Endothelial
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Publications for Lipoprotein Glomerulopathy

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Articles related to Lipoprotein Glomerulopathy:

(show top 50) (show all 123)
# Title Authors PMID Year
1
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. 38 8 71
18077821 2007
2
Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. 38 8 71
10903326 2000
3
A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy. 38 8 71
10432380 1999
4
Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 38 8 71
9176854 1997
5
Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. 38 8
16431249 2006
6
Intravascular cardiac lipoproteinosis: extrarenal manifestation of lipoprotein glomerulopathy. 38
31158730 2019
7
A novel apolipoprotein E mutation caused by a five amino acid deletion in a Chinese family with lipoprotein glomerulopathy: a case report. 38
31092271 2019
8
A young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy. 38
30685233 2019
9
Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease. 38
30598326 2019
10
Unusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft Biopsy. 38
30775634 2019
11
Lipoprotein Glomerulopathy in a Hispanic Female: A Case Report and Literature Review. 38
31285830 2019
12
A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy. 38
30614865 2019
13
Thermodynamic destabilization and aggregation propensity as the mechanism behind the association of apoE3 mutants and lipoprotein glomerulopathy. 38
30309894 2018
14
Pathogenesis, histopathologic findings and treatment modalities of lipoprotein glomerulopathy: A review. 38
30421781 2018
15
[Clinicopathologic features of lipoprotein glomerulopathy: observation of 6 cases]. 38
30293348 2018
16
The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy. 38
29398675 2018
17
A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I. 38
29356944 2018
18
A Case of Lipoprotein Glomerulopathy with apoE Chicago and apoE (Glu3Lys) Treated with Fenofibrate. 38
28966924 2017
19
Five-year follow-up of a case of lipoprotein glomerulopathy with APOE Kyoto mutation. 38
28508969 2016
20
SPONTANEOUS LIPOPROTEIN GLOMERULOPATHY-LIKE NEPHROPATHY IN A SQUIRREL (SCIURUS VULGARIS). 38
27468047 2016
21
Update on the molecular biology of dyslipidemias. 38
26546829 2016
22
Histiocytic and Nonhistiocytic Glomerular Lesions: Foam Cells and Their Mimickers. 38
26606995 2016
23
[A case of diagnosing lipoprotein glomerulopathy in Russia]. 38
28139603 2016
24
Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy. 38
26955632 2015
25
Macrophage-derived apoESendai suppresses atherosclerosis while causing lipoprotein glomerulopathy in hyperlipidemic mice. 38
25183802 2014
26
Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis. 38
25852917 2014
27
Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia. 38
24570178 2014
28
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy. 38
24149834 2014
29
Lipoprotein glomerulopathy in China. 38
24165683 2014
30
Topics in lipoprotein glomerulopathy: an overview. 38
24149835 2014
31
Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E. 38
24405372 2014
32
Lipoprotein glomerulopathy may provide a key to unlock the puzzles of renal lipidosis. 38
24487366 2014
33
Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. 38
24025644 2014
34
Lipoprotein glomerulopathy: a case report of a rare disease in a Brazilian child. 38
24676620 2014
35
Apolipoprotein e mutation and double filtration plasmapheresis therapy on a new Chinese patient with lipoprotein glomerulopathy. 38
25300642 2014
36
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. 38
23407349 2013
37
A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension. 38
23448537 2013
38
Thermodynamic and structural destabilization of apoE3 by hereditary mutations associated with the development of lipoprotein glomerulopathy. 38
23110818 2013
39
[New evolution in lipoprotein glomerulopathy]. 38
24288968 2013
40
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. 38
24348079 2013
41
Macrophage impairment produced by Fc receptor gamma deficiency plays a principal role in the development of lipoprotein glomerulopathy in concert with apoE abnormalities. 38
22863838 2012
42
A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy. 38
22874113 2012
43
[Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy]. 38
22487820 2012
44
[A case of lipoprotein glomerulopathy and a literature review of the subject]. 38
22561509 2012
45
Scavenger receptor expressions in the kidneys of mice with lipoprotein glomerulopathy. 38
22072188 2012
46
Lipoprotein glomerulopathy. 38
21464714 2011
47
Lipoprotein glomerulopathy: first report of 2 not consanguineous Italian men from the same town. 38
21534236 2011
48
A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy. 38
21467726 2011
49
Significance of a novel apolipoprotein E variant, ApoE Osaka/Kurashiki, in lipoprotein glomerulopathy. 38
21670560 2011
50
A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. 38
21325775 2011
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Variations for Lipoprotein Glomerulopathy

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ClinVar genetic disease variations for Lipoprotein Glomerulopathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 APOE NM_000041.4(APOE): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs121918397 19:45412041-45412041 19:44908784-44908784
2 APOE NM_000041.4(APOE): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs121918399 19:45411100-45411100 19:44907843-44907843

UniProtKB/Swiss-Prot genetic disease variations for Lipoprotein Glomerulopathy:

74
# Symbol AA change Variation ID SNP ID
1 APOE p.Arg43Cys VAR_042734 rs121918399
2 APOE p.Arg163Pro VAR_042735 rs121918397

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Expression for Lipoprotein Glomerulopathy

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Search GEO for disease gene expression data for Lipoprotein Glomerulopathy.
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Pathways for Lipoprotein Glomerulopathy

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Pathways related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.56 LPA LDLR LCAT APOE APOB APOA2
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.16 LDLR APOE APOB APOA2
3
Lipoprotein metabolism 66
Show member pathways
 11.97 LPA LDLR LCAT APOE APOB APOA2
4
Selenium Micronutrient Network 1
Show member pathways
 11.83 LDLR APOE APOB
5
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.79 LDLR APOE APOB APOA2
6
Statin Pathway 1
Show member pathways
 11.17 LPA LDLR LCAT APOE APOB APOA2
7
amb2 Integrin signaling 1
11.09 LPA APOB
8
A-beta Pathways: Uptake and Degradation 65
10.87 LDLR APOE
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GO Terms for Lipoprotein Glomerulopathy

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Cellular components related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.93 LCAT CLU APOE APOB APOA2
2 extracellular region GO:0005576 9.93 LPA LCAT CLU APOE APOB APOA2
3 extracellular space GO:0005615 9.91 LCAT CLU APOE APOB APOA2
4 endoplasmic reticulum lumen GO:0005788 9.7 APOE APOB APOA2
5 early endosome GO:0005769 9.67 LDLR APOE APOB APOA2
6 blood microparticle GO:0072562 9.65 CLU APOE APOA2
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.5 LDLR APOE APOB
8 endocytic vesicle lumen GO:0071682 9.49 APOE APOB
9 spherical high-density lipoprotein particle GO:0034366 9.43 CLU APOA2
10 high-density lipoprotein particle GO:0034364 9.43 LCAT APOE APOA2
11 intermediate-density lipoprotein particle GO:0034363 9.4 APOE APOB
12 very-low-density lipoprotein particle GO:0034361 9.33 APOE APOB APOA2
13 low-density lipoprotein particle GO:0034362 9.13 LDLR APOE APOB
14 chylomicron GO:0042627 8.8 APOE APOB APOA2

Biological processes related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.95 LPA LDLR LCAT CLU APOE APOB
2 positive regulation of gene expression GO:0010628 9.86 LDLR CLU APOB
3 post-translational protein modification GO:0043687 9.86 APOE APOB APOA2
4 steroid metabolic process GO:0008202 9.86 LDLR LCAT APOE APOB
5 cellular protein metabolic process GO:0044267 9.85 APOE APOB APOA2
6 receptor-mediated endocytosis GO:0006898 9.83 LDLR APOE APOB
7 lipid transport GO:0006869 9.83 LPA LDLR APOE APOB APOA2
8 retinoid metabolic process GO:0001523 9.77 APOE APOB APOA2
9 cholesterol efflux GO:0033344 9.74 APOE APOB APOA2
10 high-density lipoprotein particle remodeling GO:0034375 9.72 LCAT APOE APOA2
11 high-density lipoprotein particle clearance GO:0034384 9.71 LDLR APOE APOA2
12 chylomicron assembly GO:0034378 9.7 APOE APOB APOA2
13 chylomicron remodeling GO:0034371 9.69 APOE APOB APOA2
14 triglyceride metabolic process GO:0006641 9.68 APOE APOA2
15 long-term memory GO:0007616 9.68 LDLR APOE
16 phosphatidylcholine biosynthetic process GO:0006656 9.68 LCAT APOA2
17 triglyceride catabolic process GO:0019433 9.67 APOE APOB
18 chylomicron remnant clearance GO:0034382 9.67 LDLR APOE APOB
19 cholesterol transport GO:0030301 9.67 LDLR LCAT APOB APOA2
20 low-density lipoprotein particle clearance GO:0034383 9.66 LDLR APOB
21 artery morphogenesis GO:0048844 9.65 APOE APOB
22 regulation of cholesterol metabolic process GO:0090181 9.65 LDLR APOE
23 high-density lipoprotein particle assembly GO:0034380 9.65 APOE APOA2
24 cholesterol homeostasis GO:0042632 9.65 LDLR LCAT APOE APOB APOA2
25 regulation of protein metabolic process GO:0051246 9.64 LDLR APOE
26 phospholipid efflux GO:0033700 9.64 APOE APOA2
27 negative regulation of amyloid-beta formation GO:1902430 9.63 CLU APOE
28 very-low-density lipoprotein particle remodeling GO:0034372 9.63 LCAT APOE
29 lipoprotein biosynthetic process GO:0042158 9.63 LCAT APOE APOB
30 positive regulation of cholesterol esterification GO:0010873 9.62 APOE APOA2
31 very-low-density lipoprotein particle clearance GO:0034447 9.62 APOE APOB
32 lipoprotein metabolic process GO:0042157 9.62 LDLR APOE APOB APOA2
33 protein import GO:0017038 9.61 CLU APOE
34 positive regulation of amyloid fibril formation GO:1905908 9.61 CLU APOE
35 negative regulation of amyloid fibril formation GO:1905907 9.6 LDLR CLU
36 response to caloric restriction GO:0061771 9.58 LDLR APOE
37 regulation of amyloid-beta clearance GO:1900221 9.58 CLU APOE
38 lipoprotein catabolic process GO:0042159 9.58 LDLR APOE APOB
39 cholesterol metabolic process GO:0008203 9.55 LDLR LCAT APOE APOB APOA2
40 positive regulation of endocytosis GO:0045807 9.36 APOE
41 reverse cholesterol transport GO:0043691 9.26 LCAT CLU APOE APOA2
42 low-density lipoprotein particle remodeling GO:0034374 8.92 LPA APOE APOB APOA2

Molecular functions related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.58 LPA APOE APOB
2 phospholipid binding GO:0005543 9.54 APOE APOB APOA2
3 cholesterol binding GO:0015485 9.48 APOE APOA2
4 lipid binding GO:0008289 9.46 APOE APOA2
5 tau protein binding GO:0048156 9.43 CLU APOE
6 amyloid-beta binding GO:0001540 9.43 LDLR CLU APOE
7 lipid transporter activity GO:0005319 9.33 APOE APOB APOA2
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOE APOA2
9 low-density lipoprotein particle receptor binding GO:0050750 9.13 CLU APOE APOB
10 cholesterol transporter activity GO:0017127 8.8 APOE APOB APOA2
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Sources for Lipoprotein Glomerulopathy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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