MCID: LPP002
MIFTS: 45

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 54 24 56 71 29 13 69
Lpg 24 56 71

Characteristics:

Orphanet epidemiological data:

56
lipoprotein glomerulopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

OMIM 54 611771
Orphanet 56 ORPHA329481
UMLS via Orphanet 70 C2673196
ICD10 via Orphanet 34 N07.8
MedGen 40 C2673196

Summaries for Lipoprotein Glomerulopathy

OMIM : 54
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 xk aprosencephaly and cataract, autosomal dominant congenital 4, and has symptoms including renal insufficiency, proteinuria and mesangial hypercellularity. 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. The drugs Irbesartan and Sevelamer have been mentioned in the context of this disorder. Affiliated tissues include kidney and endothelial, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

UniProtKB/Swiss-Prot : 71 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 54)
id Related Disease Score Top Affiliating Genes
1 xk aprosencephaly 10.4 APOB APOE
2 cataract, autosomal dominant congenital 4 10.3 APOB APOE
3 islet cell tumor 10.3 APOB APOE
4 dental anomalies and short stature 10.2 APOB LPA
5 fetal parvovirus syndrome 10.1 APOB LCAT
6 amyloidosis nodular localized cutaneous 10.1 LCAT LPA
7 nephrotic syndrome 10.1
8 pontocerebellar hypoplasia 10.1 APOB APOE
9 microphthalmia, syndromic 9 10.0 APOE CLU
10 short stature, brachydactyly, intellectual developmental disability, and seizures 10.0 APOA2 LCAT
11 melorheostosis 10.0 APOB APOE
12 glossopharyngeal nerve disease 10.0 APOB APOE LPA
13 atherosclerosis 9.9
14 myelophthisic anemia 9.9 APOB APOE LPA
15 stroke, ischemic 9.9 APOB APOE LPA
16 afibrinogenemia, congenital 9.9 APOA2 LPA
17 wolfram syndrome 2 9.9 APOB APOE LCAT
18 hemochromatosis, type 5 9.8 APOE LDLR
19 hyperlipidemia, familial combined 9.8 APOA2 APOB APOE
20 hyperchylomicronemia, late-onset 9.8 APOA2 APOB APOE
21 familial osteochondritis dissecans 9.7 APOA2 APOE LCAT
22 glomerulonephritis 9.7
23 malignant hypertension 9.7
24 psoriasis 9.7
25 fibrillary glomerulonephritis 9.7
26 endotheliitis 9.7
27 angina pectoris 9.7 APOB LPA
28 hypercholesterolemia, due to ligand-defective apo b 9.6 APOB APOE LDLR
29 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.6 APOB APOE LDLR
30 arthritis 9.6 APOE LDLR LPA
31 malignant type ab thymoma 9.5 APOB APOE LDLR
32 chondrocalcinosis with early-onset osteoarthritis 9.5 APOB APOE LCAT LPA
33 migraine with or without aura 1 9.4 APOA2 APOB APOE LPA
34 von hippel-lindau syndrome 9.3 APOB APOE LCAT LPA
35 alzheimer disease-2 9.2 APOB APOE LDLR LPA
36 malignant fibrous histiocytoma of bone 9.2 APOB APOE LDLR LPA
37 autoimmune hepatitis 9.1 APOB APOE LDLR LPA
38 pericarditis 9.1 APOB APOE LDLR LPA
39 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 9.1 APOB APOE LCAT LDLR
40 hypobetalipoproteinemia 9.1 APOB APOE LCAT LDLR
41 bird fancier's lung 8.9 APOA2 APOB APOE LCAT LPA
42 obesity, hyperphagia, and developmental delay 8.9 APOA2 APOB APOE LCAT LPA
43 maturity-onset diabetes of the young 6 8.8 APOA2 APOB APOE LCAT LPA
44 acute apical periodontitis 8.7 APOB APOE LCAT LDLR LPA
45 skin squamous cell carcinoma 8.7 APOB APOE LCAT LDLR LPA
46 myocardial infarction 8.5 APOA2 APOB APOE LDLR LPA
47 lissencephaly 6, with microcephaly 8.5 APOA2 APOB APOE LCAT LDLR
48 stone in bladder diverticulum 8.1 APOA2 APOB APOE LCAT LDLR LPA
49 fish-eye disease 8.1 APOA2 APOB APOE LCAT LDLR LPA
50 apolipoprotein c-iii deficiency 8.1 APOA2 APOB APOE LCAT LDLR LPA

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
id 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
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 APOB APOE LCAT LDLR

Drugs & Therapeutics for Lipoprotein Glomerulopathy

Drugs for Lipoprotein Glomerulopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irbesartan Approved, Investigational 138402-11-6 3749
2
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
3
Angiotensin II Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
4
Uric Acid Experimental, Investigational 69-93-2 1175
5 Angiotensin II Type 1 Receptor Blockers
6 Angiotensin Receptor Antagonists
7 Angiotensinogen
8 Antihypertensive Agents
9 Chelating Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Immunoadsorption for Patients With Lipoprotein Glomerulopathy Completed NCT00302510
2 A Prospective, Single-center, Randomized, Controlled Study of Sevelamer Carbonate in the Lipid Metabolism and Uric Acid Treatment of Obesity-Related Glomerulopathy Recruiting NCT02644486 High dosage Sevelamer Carbonate + Irbesartan;Low dosage Sevelamer Carbonate + Irbesartan;Irbesartan

Search NIH Clinical Center for Lipoprotein Glomerulopathy

Genetic Tests for Lipoprotein Glomerulopathy

Genetic tests related to Lipoprotein Glomerulopathy:

id Genetic test Affiliating Genes
1 Lipoprotein Glomerulopathy 29 24 APOE

Anatomical Context for Lipoprotein Glomerulopathy

MalaCards organs/tissues related to Lipoprotein Glomerulopathy:

39
Kidney, Endothelial

Publications for Lipoprotein Glomerulopathy

Articles related to Lipoprotein Glomerulopathy:

(show top 50) (show all 85)
id Title Authors Year
1
Five-year follow-up of a case of lipoprotein glomerulopathy with APOE Kyoto mutation. ( 28508969 )
2016
2
SPONTANEOUS LIPOPROTEIN GLOMERULOPATHY-LIKE NEPHROPATHY IN A SQUIRREL (SCIURUS VULGARIS). ( 27468047 )
2016
3
Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy. ( 26955632 )
2015
4
Lipoprotein glomerulopathy: a case report of a rare disease in a Brazilian child. ( 24676620 )
2014
5
Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis. ( 25852917 )
2014
6
Lipoprotein glomerulopathy may provide a key to unlock the puzzles of renal lipidosis. ( 24487366 )
2014
7
Macrophage-derived apoESendai suppresses atherosclerosis while causing lipoprotein glomerulopathy in hyperlipidemic mice. ( 25183802 )
2014
8
Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia. ( 24570178 )
2014
9
Apolipoprotein e mutation and double filtration plasmapheresis therapy on a new chinese patient with lipoprotein glomerulopathy. ( 25300642 )
2014
10
Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. ( 24025644 )
2013
11
Lipoprotein glomerulopathy in China. ( 24165683 )
2013
12
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. ( 24348079 )
2013
13
Topics in lipoprotein glomerulopathy: an overview. ( 24149835 )
2013
14
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. ( 23407349 )
2013
15
Thermodynamic and structural destabilization of apoE3 by hereditary mutations associated with the development of lipoprotein glomerulopathy. ( 23110818 )
2013
16
A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension. ( 23448537 )
2013
17
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy. ( 24149834 )
2013
18
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
19
A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy. ( 22874113 )
2012
20
[Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy]. ( 22487820 )
2012
21
Scavenger receptor expressions in the kidneys of mice with lipoprotein glomerulopathy. ( 22072188 )
2012
22
A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. ( 21325775 )
2011
23
Lipoprotein glomerulopathy: first report of 2 not consanguineous Italian men from the same town. ( 21534236 )
2011
24
Significance of a novel apolipoprotein E variant, ApoE Osaka/Kurashiki, in lipoprotein glomerulopathy. ( 21670560 )
2011
25
Lipoprotein glomerulopathy. ( 21464714 )
2011
26
A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy. ( 21467726 )
2011
27
Successful treatment of lipoprotein glomerulopathy in a daughter and a mother using niceritrol. ( 20842518 )
2010
28
Atherosclerosis, inflammation and lipoprotein glomerulopathy in kidneys of apoE-/-/LDL-/- double knockout mice. ( 20727187 )
2010
29
A rare case of lipoprotein glomerulopathy in a white man: an emerging entity in Asia, rare in the white population. ( 20121619 )
2010
30
A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy. ( 20624773 )
2010
31
Common apolipoprotein E gene mutations contribute to lipoprotein glomerulopathy in China. ( 20090368 )
2010
32
Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy. ( 19603250 )
2009
33
Lipoprotein glomerulopathy induced by ApoE-Sendai is different from glomerular lesions in aged apoE-deficient mice. ( 19459027 )
2009
34
Lipoprotein glomerulopathy treated with LDL-apheresis (Heparin-induced Extracorporeal Lipoprotein Precipitation system): a case report. ( 20062740 )
2009
35
A rare cause of nephrotic syndrome: lipoprotein glomerulopathy. ( 19197098 )
2009
36
Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy. ( 18046082 )
2008
37
A novel apolipoprotein E mutation, ApoE Tsukuba (Arg 114 Cys), in lipoprotein glomerulopathy. ( 17967799 )
2008
38
Renal failure with intracapillary thrombi. Lipoprotein glomerulopathy. ( 18414445 )
2008
39
A novel variant apolipoprotein E Okayama in a patient with lipoprotein glomerulopathy. ( 18045818 )
2008
40
Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy. ( 18264944 )
2008
41
A complete genomic analysis of the apolipoprotein E gene in Chinese patients with lipoprotein glomerulopathy. ( 17918142 )
2007
42
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity. ( 17593519 )
2007
43
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. ( 18077821 )
2007
44
Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. ( 16431249 )
2006
45
Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding. ( 16490634 )
2006
46
Plasma level and genetic variation of apolipoprotein E in patients with lipoprotein glomerulopathy. ( 15820086 )
2005
47
[Clinical and pathological analyses of lipoprotein glomerulopathy]. ( 15181857 )
2004
48
Resolution of typical lipoprotein glomerulopathy by intensive lipid-lowering therapy. ( 12500244 )
2003
49
Lipoprotein glomerulopathy associated with psoriasis vulgaris: report of 2 cases with apolipoprotein E3/3. ( 12955707 )
2003
50
Disappearance of intraglomerular lipoprotein thrombi and marked improvement of nephrotic syndrome by bezafibrate treatment in a patient with lipoprotein glomerulopathy. ( 12921981 )
2003

Variations for Lipoprotein Glomerulopathy

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

71
id 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
id 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.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs121918399 GRCh37 Chromosome 19, 45411100: 45411100

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 APOA2 APOB APOE LCAT LDLR LPA
2
Show member pathways
12.17 APOA2 APOB APOE LDLR
3
Show member pathways
11.97 APOA2 APOB APOE LCAT LDLR LPA
4
Show member pathways
11.79 APOA2 APOB APOE LDLR
5 11.05 APOB LPA
6 10.87 APOE LDLR
7
Show member pathways
10.85 APOA2 APOB APOE LCAT LDLR

GO Terms for Lipoprotein Glomerulopathy

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

(show all 13)
id 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 9.7 APOA2 APOB APOE
4 blood microparticle GO:0072562 9.69 APOA2 APOE CLU
5 early endosome GO:0005769 9.67 APOA2 APOB APOE LDLR
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.5 APOB APOE LDLR
7 endocytic vesicle lumen GO:0071682 9.49 APOB APOE
8 spherical high-density lipoprotein particle GO:0034366 9.46 APOA2 CLU
9 high-density lipoprotein particle GO:0034364 9.43 APOA2 APOE LCAT
10 intermediate-density lipoprotein particle GO:0034363 9.4 APOB APOE
11 very-low-density lipoprotein particle GO:0034361 9.33 APOA2 APOB APOE
12 low-density lipoprotein particle GO:0034362 9.13 APOB APOE LDLR
13 chylomicron GO:0042627 8.8 APOA2 APOB APOE

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

(show all 37)
id 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 9.85 APOB CLU LDLR
3 post-translational protein modification GO:0043687 9.85 APOA2 APOB APOE
4 steroid metabolic process GO:0008202 9.85 APOB APOE LCAT LDLR
5 cellular protein metabolic process GO:0044267 9.83 APOA2 APOB APOE
6 receptor-mediated endocytosis GO:0006898 9.82 APOB APOE LDLR
7 lipid transport GO:0006869 9.8 APOA2 APOB APOE LDLR LPA
8 retinoid metabolic process GO:0001523 9.75 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 chylomicron remnant clearance GO:0034382 9.67 APOB APOE LDLR
14 cholesterol transport GO:0030301 9.67 APOA2 APOB LCAT LDLR
15 triglyceride metabolic process GO:0006641 9.66 APOA2 APOE
16 phosphatidylcholine biosynthetic process GO:0006656 9.66 APOA2 LCAT
17 low-density lipoprotein particle clearance GO:0034383 9.65 APOB LDLR
18 triglyceride catabolic process GO:0019433 9.65 APOB APOE
19 cholesterol metabolic process GO:0008203 9.65 APOA2 APOB APOE LCAT LDLR
20 artery morphogenesis GO:0048844 9.64 APOB APOE
21 high-density lipoprotein particle assembly GO:0034380 9.63 APOA2 APOE
22 lipoprotein biosynthetic process GO:0042158 9.63 APOB APOE LCAT
23 phospholipid efflux GO:0033700 9.62 APOA2 APOE
24 positive regulation of cholesterol esterification GO:0010873 9.62 APOA2 APOE
25 lipoprotein metabolic process GO:0042157 9.62 APOA2 APOB APOE LDLR
26 high-density lipoprotein particle clearance GO:0034384 9.61 APOA2 APOE
27 negative regulation of beta-amyloid formation GO:1902430 9.61 APOE CLU
28 lipoprotein catabolic process GO:0042159 9.61 APOB APOE LDLR
29 very-low-density lipoprotein particle remodeling GO:0034372 9.6 APOE LCAT
30 very-low-density lipoprotein particle clearance GO:0034447 9.59 APOB APOE
31 protein import GO:0017038 9.58 APOE CLU
32 regulation of beta-amyloid clearance GO:1900221 9.57 APOE CLU
33 reverse cholesterol transport GO:0043691 9.46 APOA2 APOE CLU LCAT
34 cholesterol homeostasis GO:0042632 9.35 APOA2 APOB APOE LCAT LDLR
35 positive regulation of endocytosis GO:0045807 9.33 APOE
36 low-density lipoprotein particle remodeling GO:0034374 8.92 APOA2 APOB APOE LPA
37 transport GO:0006810 10.06 APOA2 APOB APOE LDLR LPA

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

id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.61 APOA2 APOB APOE
2 heparin binding GO:0008201 9.58 APOB APOE LPA
3 phospholipid binding GO:0005543 9.54 APOA2 APOB APOE
4 cholesterol binding GO:0015485 9.46 APOA2 APOE
5 lipid transporter activity GO:0005319 9.33 APOA2 APOB APOE
6 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOA2 APOE
7 beta-amyloid binding GO:0001540 9.26 APOE CLU
8 low-density lipoprotein particle receptor binding GO:0050750 9.13 APOB APOE CLU
9 cholesterol transporter activity GO:0017127 8.8 APOA2 APOB APOE

Sources for Lipoprotein Glomerulopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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