MCID: LPP002
MIFTS: 44

Lipoprotein Glomerulopathy

Categories: Genetic diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Lipoprotein Glomerulopathy

MalaCards integrated aliases for Lipoprotein Glomerulopathy:

Name: Lipoprotein Glomerulopathy 57 59 75 37 29 13 6 40 73
Lpg 57 59 75

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

OMIM 57 611771
Orphanet 59 ORPHA329481
UMLS via Orphanet 74 C2673196
ICD10 via Orphanet 34 N07.8
MedGen 42 C2673196
KEGG 37 H00887
UMLS 73 C2673196

Summaries for Lipoprotein Glomerulopathy

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 xanthoma disseminatum and ischemic heart disease. 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

UniProtKB/Swiss-Prot : 75 Lipoprotein glomerulopathy: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.

Related Diseases for Lipoprotein Glomerulopathy

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 xanthoma disseminatum 10.4 APOB APOE
2 ischemic heart disease 10.3 APOB APOE
3 sea-blue histiocyte disease 10.2 APOE LCAT
4 nephrotic syndrome 10.2
5 fetal macrosomia 10.1 APOB LCAT
6 coronary stenosis 10.1 APOB APOE
7 amyloidosis aa 10.1 LCAT LPA
8 exfoliation syndrome 10.0 APOE CLU
9 burns 10.0
10 fish-eye disease 9.9 APOA2 LCAT
11 gallbladder disease 9.9 APOB APOE
12 pick disease of brain 9.9 APOE CLU
13 carotid artery disease 9.9 APOB APOE LPA
14 arteriosclerosis 9.8 APOB APOE LPA
15 amyloidosis, familial visceral 9.8 APOA2 LPA
16 abetalipoproteinemia 9.8 APOB APOE LCAT
17 stroke, ischemic 9.8 APOB APOE LPA
18 autoimmune disease 9.8
19 neurofibromatosis, type i 9.8
20 aging 9.8
21 psoriasis 2 9.8
22 psoriasis 7 9.8
23 autoimmune disease 1 9.8
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
25 psoriasis 11 9.8
26 psoriasis 13 9.8
27 glomerulonephritis 9.8
28 malignant hypertension 9.8
29 psoriasis 9.8
30 type i 9.8
31 fibrillary glomerulonephritis 9.8
32 endotheliitis 9.8
33 smith-lemli-opitz syndrome 9.7 APOE LDLR
34 schnyder corneal dystrophy 9.7 APOA2 APOB APOE
35 hypertriglyceridemia, familial 9.7 APOB LDLR
36 hyperlipoproteinemia, type iv 9.7 APOA2 APOB APOE
37 familial lcat deficiency 9.6 APOA2 APOE LCAT
38 peripheral vascular disease 9.6 APOB LPA
39 hypercholesterolemia, autosomal dominant, type b 9.5 APOB APOE LDLR
40 homozygous familial hypercholesterolemia 9.5 APOB APOE LDLR
41 aortic atherosclerosis 9.4 APOE LDLR LPA
42 cerebrovascular disease 9.4 APOB APOE LDLR
43 leukodystrophy, hypomyelinating, 3 9.2 APOA2 APOB APOE LPA
44 hyperlipidemia, familial combined 9.2 APOA2 APOB APOE LPA
45 body mass index quantitative trait locus 11 9.1 APOA2 APOB APOE LPA
46 xanthomatosis 9.0 APOB APOE LDLR LPA
47 hyperlipoproteinemia, type iii 9.0 APOB APOE LDLR LPA
48 arteries, anomalies of 9.0 APOB APOE LDLR LPA
49 atherosclerosis susceptibility 8.9 APOB APOE LDLR LPA
50 defective apolipoprotein b-100 8.9 APOB APOE LCAT LDLR

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



Diseases related to Lipoprotein Glomerulopathy

Symptoms & Phenotypes for Lipoprotein Glomerulopathy

Clinical features from OMIM:

611771

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 mesangial hypercellularity 32 HP:0012574
4 glomerulopathy 32 HP:0100820

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 9.55 APOB APOE CLU LCAT LDLR
2 homeostasis/metabolism MP:0005376 9.43 APOA2 APOB APOE CLU LCAT LDLR
3 liver/biliary system MP:0005370 8.92 APOB APOE LCAT LDLR

Drugs & Therapeutics for Lipoprotein Glomerulopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Immunoadsorption for Patients With Lipoprotein Glomerulopathy Completed NCT00302510 Not Applicable

Search NIH Clinical Center for Lipoprotein Glomerulopathy

Genetic Tests for Lipoprotein Glomerulopathy

Genetic tests related to Lipoprotein Glomerulopathy:

# Genetic test Affiliating Genes
1 Lipoprotein Glomerulopathy 29 APOE

Anatomical Context for Lipoprotein Glomerulopathy

MalaCards organs/tissues related to Lipoprotein Glomerulopathy:

41
Kidney, Endothelial

Publications for Lipoprotein Glomerulopathy

Articles related to Lipoprotein Glomerulopathy:

(show top 50) (show all 89)
# Title Authors Year
1
The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518Ti19C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy. ( 29398675 )
2018
2
A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I. ( 29356944 )
2018
3
A Case of Lipoprotein Glomerulopathy with apoE Chicago and apoE (Glu3Lys) Treated with Fenofibrate. ( 28966924 )
2017
4
Five-year follow-up of a case of lipoprotein glomerulopathy with APOE Kyoto mutation. ( 28508969 )
2016
5
SPONTANEOUS LIPOPROTEIN GLOMERULOPATHY-LIKE NEPHROPATHY IN A SQUIRREL (SCIURUS VULGARIS). ( 27468047 )
2016
6
Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy. ( 26955632 )
2015
7
Apolipoprotein e mutation and double filtration plasmapheresis therapy on a new chinese patient with lipoprotein glomerulopathy. ( 25300642 )
2014
8
Macrophage-derived apoESendai suppresses atherosclerosis while causing lipoprotein glomerulopathy in hyperlipidemic mice. ( 25183802 )
2014
9
Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia. ( 24570178 )
2014
10
Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis. ( 25852917 )
2014
11
Lipoprotein glomerulopathy: a case report of a rare disease in a Brazilian child. ( 24676620 )
2014
12
Lipoprotein glomerulopathy may provide a key to unlock the puzzles of renal lipidosis. ( 24487366 )
2014
13
A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension. ( 23448537 )
2013
14
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. ( 24348079 )
2013
15
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy. ( 24149834 )
2013
16
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. ( 23407349 )
2013
17
Thermodynamic and structural destabilization of apoE3 by hereditary mutations associated with the development of lipoprotein glomerulopathy. ( 23110818 )
2013
18
Topics in lipoprotein glomerulopathy: an overview. ( 24149835 )
2013
19
Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. ( 24025644 )
2013
20
Lipoprotein glomerulopathy in China. ( 24165683 )
2013
21
Scavenger receptor expressions in the kidneys of mice with lipoprotein glomerulopathy. ( 22072188 )
2012
22
Macrophage impairment produced by Fc receptor gamma deficiency plays a principal role in the development of lipoprotein glomerulopathy in concert with apoE abnormalities. ( 22863838 )
2012
23
A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy. ( 22874113 )
2012
24
[Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy]. ( 22487820 )
2012
25
Lipoprotein glomerulopathy: first report of 2 not consanguineous Italian men from the same town. ( 21534236 )
2011
26
Lipoprotein glomerulopathy. ( 21464714 )
2011
27
A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy. ( 21467726 )
2011
28
A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. ( 21325775 )
2011
29
Significance of a novel apolipoprotein E variant, ApoE Osaka/Kurashiki, in lipoprotein glomerulopathy. ( 21670560 )
2011
30
A rare case of lipoprotein glomerulopathy in a white man: an emerging entity in Asia, rare in the white population. ( 20121619 )
2010
31
Successful treatment of lipoprotein glomerulopathy in a daughter and a mother using niceritrol. ( 20842518 )
2010
32
A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy. ( 20624773 )
2010
33
Common apolipoprotein E gene mutations contribute to lipoprotein glomerulopathy in China. ( 20090368 )
2010
34
Atherosclerosis, inflammation and lipoprotein glomerulopathy in kidneys of apoE-/-/LDL-/- double knockout mice. ( 20727187 )
2010
35
Lipoprotein glomerulopathy induced by ApoE-Sendai is different from glomerular lesions in aged apoE-deficient mice. ( 19459027 )
2009
36
Lipoprotein glomerulopathy treated with LDL-apheresis (Heparin-induced Extracorporeal Lipoprotein Precipitation system): a case report. ( 20062740 )
2009
37
Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy. ( 19603250 )
2009
38
A rare cause of nephrotic syndrome: lipoprotein glomerulopathy. ( 19197098 )
2009
39
Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy. ( 18046082 )
2008
40
Renal failure with intracapillary thrombi. Lipoprotein glomerulopathy. ( 18414445 )
2008
41
A novel apolipoprotein E mutation, ApoE Tsukuba (Arg 114 Cys), in lipoprotein glomerulopathy. ( 17967799 )
2008
42
Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy. ( 18264944 )
2008
43
A novel variant apolipoprotein E Okayama in a patient with lipoprotein glomerulopathy. ( 18045818 )
2008
44
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity. ( 17593519 )
2007
45
A complete genomic analysis of the apolipoprotein E gene in Chinese patients with lipoprotein glomerulopathy. ( 17918142 )
2007
46
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. ( 18077821 )
2007
47
Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. ( 16431249 )
2006
48
Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding. ( 16490634 )
2006
49
Plasma level and genetic variation of apolipoprotein E in patients with lipoprotein glomerulopathy. ( 15820086 )
2005
50
[Clinical and pathological analyses of lipoprotein glomerulopathy]. ( 15181857 )
2004

Variations for Lipoprotein Glomerulopathy

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

75
# Symbol AA change Variation ID SNP ID
1 APOE p.Arg43Cys VAR_042734 rs121918399
2 APOE p.Arg163Pro VAR_042735 rs121918397

ClinVar genetic disease variations for Lipoprotein Glomerulopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOE NM_000041.3(APOE): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs121918397 GRCh37 Chromosome 19, 45412041: 45412041
2 APOE NM_000041.3(APOE): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs121918397 GRCh38 Chromosome 19, 44908784: 44908784
3 APOE NM_000041.3(APOE): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs121918399 GRCh37 Chromosome 19, 45411100: 45411100
4 APOE NM_000041.3(APOE): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs121918399 GRCh38 Chromosome 19, 44907843: 44907843

Expression for Lipoprotein Glomerulopathy

Search GEO for disease gene expression data for Lipoprotein Glomerulopathy.

Pathways for Lipoprotein Glomerulopathy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 APOA2 APOB APOE LCAT LDLR LPA
2
Show member pathways
12.16 APOA2 APOB APOE LDLR
3
Show member pathways
11.97 APOA2 APOB APOE LCAT LDLR LPA
4
Show member pathways
11.83 APOB APOE LDLR
5
Show member pathways
11.79 APOA2 APOB APOE LDLR
6
Show member pathways
11.17 APOA2 APOB APOE LCAT LDLR LPA
7 11.09 APOB LPA
8 10.87 APOE LDLR

GO Terms for Lipoprotein Glomerulopathy

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.95 APOA2 APOB APOE CLU LCAT LPA
2 extracellular space GO:0005615 9.91 APOA2 APOB APOE CLU LCAT LDLR
3 endoplasmic reticulum lumen GO:0005788 9.71 APOA2 APOB APOE
4 blood microparticle GO:0072562 9.7 APOA2 APOE CLU
5 early endosome GO:0005769 9.67 APOA2 APOB APOE LDLR
6 endocytic vesicle lumen GO:0071682 9.51 APOB APOE
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.5 APOB APOE LDLR
8 amyloid-beta complex GO:0106003 9.49 APOE CLU
9 spherical high-density lipoprotein particle GO:0034366 9.46 APOA2 CLU
10 high-density lipoprotein particle GO:0034364 9.43 APOA2 APOE LCAT
11 intermediate-density lipoprotein particle GO:0034363 9.4 APOB APOE
12 very-low-density lipoprotein particle GO:0034361 9.33 APOA2 APOB APOE
13 low-density lipoprotein particle GO:0034362 9.13 APOB APOE LDLR
14 chylomicron GO:0042627 8.8 APOA2 APOB APOE

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 APOB APOE CLU LCAT LDLR LPA
2 positive regulation of gene expression GO:0010628 9.86 APOB CLU LDLR
3 post-translational protein modification GO:0043687 9.86 APOA2 APOB APOE
4 cellular protein metabolic process GO:0044267 9.85 APOA2 APOB APOE
5 steroid metabolic process GO:0008202 9.85 APOB APOE LCAT LDLR
6 receptor-mediated endocytosis GO:0006898 9.83 APOB APOE LDLR
7 lipid transport GO:0006869 9.8 APOA2 APOB APOE LDLR LPA
8 retinoid metabolic process GO:0001523 9.76 APOA2 APOB APOE
9 cholesterol efflux GO:0033344 9.73 APOA2 APOB APOE
10 high-density lipoprotein particle remodeling GO:0034375 9.71 APOA2 APOE LCAT
11 chylomicron assembly GO:0034378 9.7 APOA2 APOB APOE
12 chylomicron remodeling GO:0034371 9.69 APOA2 APOB APOE
13 triglyceride metabolic process GO:0006641 9.68 APOA2 APOE
14 long-term memory GO:0007616 9.68 APOE LDLR
15 phosphatidylcholine biosynthetic process GO:0006656 9.68 APOA2 LCAT
16 triglyceride catabolic process GO:0019433 9.67 APOB APOE
17 low-density lipoprotein particle clearance GO:0034383 9.67 APOB LDLR
18 chylomicron remnant clearance GO:0034382 9.67 APOB APOE LDLR
19 cholesterol transport GO:0030301 9.67 APOA2 APOB LCAT LDLR
20 positive regulation of endocytosis GO:0045807 9.66 APOE LDLR
21 artery morphogenesis GO:0048844 9.65 APOB APOE
22 high-density lipoprotein particle assembly GO:0034380 9.65 APOA2 APOE
23 phospholipid efflux GO:0033700 9.65 APOA2 APOE
24 cholesterol metabolic process GO:0008203 9.65 APOA2 APOB APOE LCAT LDLR
25 regulation of protein metabolic process GO:0051246 9.64 APOE LDLR
26 regulation of cholesterol metabolic process GO:0090181 9.64 APOE LDLR
27 very-low-density lipoprotein particle remodeling GO:0034372 9.63 APOE LCAT
28 positive regulation of cholesterol esterification GO:0010873 9.63 APOA2 APOE
29 lipoprotein biosynthetic process GO:0042158 9.63 APOB APOE LCAT
30 high-density lipoprotein particle clearance GO:0034384 9.62 APOA2 APOE
31 negative regulation of amyloid-beta formation GO:1902430 9.62 APOE CLU
32 lipoprotein metabolic process GO:0042157 9.62 APOA2 APOB APOE LDLR
33 very-low-density lipoprotein particle clearance GO:0034447 9.61 APOB APOE
34 protein import GO:0017038 9.61 APOE CLU
35 lipoprotein catabolic process GO:0042159 9.61 APOB APOE LDLR
36 positive regulation of amyloid fibril formation GO:1905908 9.6 APOE CLU
37 negative regulation of amyloid fibril formation GO:1905907 9.59 CLU LDLR
38 regulation of amyloid-beta clearance GO:1900221 9.58 APOE CLU
39 response to caloric restriction GO:0061771 9.57 APOE LDLR
40 cholesterol homeostasis GO:0042632 9.55 APOA2 APOB APOE LCAT LDLR
41 reverse cholesterol transport GO:0043691 9.26 APOA2 APOE CLU LCAT
42 low-density lipoprotein particle remodeling GO:0034374 8.92 APOA2 APOB APOE LPA

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.63 APOA2 APOB APOE
2 heparin binding GO:0008201 9.61 APOB APOE LPA
3 phospholipid binding GO:0005543 9.54 APOA2 APOB APOE
4 cholesterol binding GO:0015485 9.48 APOA2 APOE
5 amyloid-beta binding GO:0001540 9.43 APOE CLU LDLR
6 tau protein binding GO:0048156 9.4 APOE CLU
7 lipid transporter activity GO:0005319 9.33 APOA2 APOB APOE
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOA2 APOE
9 low-density lipoprotein particle receptor binding GO:0050750 9.13 APOB APOE CLU
10 cholesterol transporter activity GO:0017127 8.8 APOA2 APOB APOE

Sources for Lipoprotein Glomerulopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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