MCID: LPP002
MIFTS: 43

Lipoprotein Glomerulopathy malady

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

Aliases & Classifications for Lipoprotein Glomerulopathy

About this section

Aliases & Descriptions for Lipoprotein Glomerulopathy:

Name: Lipoprotein Glomerulopathy 49 11 51 24 65 67
 
Lpg 51 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
lipoprotein glomerulopathy:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

OMIM49 611771
Orphanet51 329481
MedGen34 C2673196

Summaries for Lipoprotein Glomerulopathy

About this section
OMIM:49 Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and... (611771) more...

MalaCards based summary: Lipoprotein Glomerulopathy, also known as lpg, is related to nephrotic syndrome and atherosclerosis, and has symptoms including renal insufficiency, proteinuria and mesangial abnormality. An important gene associated with Lipoprotein Glomerulopathy is APOE (Apolipoprotein E), and among its related pathways are amb2 Integrin signaling and A-beta Uptake and Degradation. Affiliated tissues include kidney and endothelial, and related mouse phenotypes are pigmentation and liver/biliary system.

UniProtKB/Swiss-Prot:67 Lipoprotein glomerulopathy: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.

Related Diseases for Lipoprotein Glomerulopathy

About this section

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome10.6
2atherosclerosis10.4
3nephronophthisis10.1APOE, LPA
4glomerulonephritis10.1
5gamma chain deficiency10.1
6malignant hypertension10.1
7psoriasis10.1
8fibrillary glomerulonephritis10.1
9glomerular disease10.1
10endotheliitis10.1
11progressive nodular histiocytosis10.1APOB, APOE
12ischemic optic neuropathy10.1APOB, APOE
13gallbladder sarcoma10.0APOB, APOE
14amyloidosis, familial visceral10.0APOA2, LPA
15cranial nerve disease10.0APOB, APOE
16crimean-congo hemorrhagic fever10.0APOE, CLU
17sarcomatoid renal cell carcinoma10.0APOB, APOE, LPA
18alzheimer disease-210.0APOE, LCAT
19cauda equina neoplasm10.0APOB, APOE, LPA
20arteriovenous fistula10.0APOE, LDLR, LPA
21hypercholesterolemia, due to ligand-defective apo b10.0APOB, APOE, LDLR
22stroke, ischemic10.0APOB, APOE, LPA
23amyloidosis beta2m9.9LCAT, LPA
24cardiomyopathy, dilated, 1u9.9APOE, CLU
25cerebrum cancer9.9APOB, APOE, LDLR
26fetal methimazole syndrome9.9APOB, LCAT
27spinocerebellar ataxia 49.9APOA2, LCAT
28tendinopathy9.9APOB, LPA
29abetalipoproteinemia9.8APOB, APOE, LCAT
30macrocephaly, alopecia, cutis laxa, and scoliosis9.8LCAT, LPA
31hyperphenilalaninemia due to pterin-4-alpha-carbin9.8APOB, APOE, LDLR, LPA
32yaws9.8APOB, APOE, LDLR, LPA
33fasciitis9.8APOB, APOE, LDLR, LPA
34artery disease9.8APOB, APOE, LDLR, LPA
35autistic disorder9.8APOB, APOE, LDLR, LPA
36vascular hemostatic disease9.8APOB, APOE, LDLR, LPA
37malignant anus melanoma9.8APOA2, APOB, LCAT
38off-periods in parkinson disease not responding to oral treatment9.8APOA2, APOB, APOE, LDLR
39scurvy9.7APOB, APOE, LCAT, LPA
40deficiency of n-glycanase 19.6APOB, APOE, LCAT, LDLR
41hypobetalipoproteinemia9.6APOB, APOE, LCAT, LDLR
42hyperlipidemia, familial combined9.6APOA2, APOB, APOE, LCAT
43hypopharynx cancer9.6APOA2, APOB, LCAT, LPA
44hypertriglyceridemia9.6APOA2, APOB, APOE, LDLR, LPA
45obesity9.6APOB, APOE, LCAT, LPA
46lissencephaly 6, with microcephaly9.6APOA2, APOB, LCAT, LDLR
47myocardial infarction9.6APOA2, APOB, APOE, LDLR, LPA
48tangier disease9.5APOA2, APOB, APOE, LCAT, LPA
49lipid storage disease9.5APOB, APOE, LCAT, LDLR, LPA
50esophagus carcinoma in situ9.3APOA2, APOB, APOE, LCAT, LDLR, LPA

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



Diseases related to lipoprotein glomerulopathy

Symptoms for Lipoprotein Glomerulopathy

About this section


Clinical features from OMIM:

611771

HPO human phenotypes related to Lipoprotein Glomerulopathy:

id Description Frequency HPO Source Accession
1 renal insufficiency HP:0000083
2 proteinuria HP:0000093
3 mesangial abnormality HP:0001966
4 glomerulopathy HP:0100820

Drugs & Therapeutics for Lipoprotein Glomerulopathy

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Angiotensin II Type 1 Receptor Blockers928

Interventional clinical trials:

idNameStatusNCT IDPhase
1Therapeutic Effect of Immunoadsorption for Patients With Lipoprotein GlomerulopathyCompletedNCT00302510
2A Prospective, Single-center, Randomized, Controlled Study of Sevelamer Carbonate in the Lipid Metabolism and Uric Acid Treatment of Obesity-Related GlomerulopathyNot yet recruitingNCT02644486

Search NIH Clinical Center for Lipoprotein Glomerulopathy

Genetic Tests for Lipoprotein Glomerulopathy

About this section

Genetic tests related to Lipoprotein Glomerulopathy:

id Genetic test Affiliating Genes
1 Lipoprotein Glomerulopathy24

Anatomical Context for Lipoprotein Glomerulopathy

About this section

MalaCards organs/tissues related to Lipoprotein Glomerulopathy:

33
Kidney, Endothelial

Animal Models for Lipoprotein Glomerulopathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Lipoprotein Glomerulopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5APOB, APOE, LDLR
2MP:00053708.5APOB, APOE, LCAT, LDLR
3MP:00053958.5APOA2, APOE, CLU, LDLR
4MP:00053918.2APOB, APOE, LCAT, LDLR
5MP:00053857.7APOB, APOE, CLU, LCAT, LDLR
6MP:00053767.2APOA2, APOB, APOE, CLU, LCAT, LDLR

Publications for Lipoprotein Glomerulopathy

About this section

Articles related to Lipoprotein Glomerulopathy:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Lipoprotein glomerulopathy: a case report of a rare disease in a Brazilian child. (24676620)
2014
2
Apolipoprotein e mutation and double filtration plasmapheresis therapy on a new chinese patient with lipoprotein glomerulopathy. (25300642)
2014
3
Macrophage-derived apoESendai suppresses atherosclerosis while causing lipoprotein glomerulopathy in hyperlipidemic mice. (25183802)
2014
4
Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. (24025644)
2013
5
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. (24348079)
2013
6
A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension. (23448537)
2013
7
Thermodynamic and structural destabilization of apoE3 by hereditary mutations associated with the development of lipoprotein glomerulopathy. (23110818)
2013
8
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy. (24149834)
2013
9
Scavenger receptor expressions in the kidneys of mice with lipoprotein glomerulopathy. (22072188)
2012
10
Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy]. (22487820)
2012
11
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
12
A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy. (22874113)
2012
13
A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. (21325775)
2011
14
Significance of a novel apolipoprotein E variant, ApoE Osaka/Kurashiki, in lipoprotein glomerulopathy. (21670560)
2011
15
Lipoprotein glomerulopathy: first report of 2 not consanguineous Italian men from the same town. (21534236)
2011
16
A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy. (21467726)
2011
17
Lipoprotein glomerulopathy. (21464714)
2011
18
A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy. (20624773)
2010
19
A rare case of lipoprotein glomerulopathy in a white man: an emerging entity in Asia, rare in the white population. (20121619)
2010
20
Lipoprotein glomerulopathy induced by ApoE-Sendai is different from glomerular lesions in aged apoE-deficient mice. (19459027)
2009
21
A rare cause of nephrotic syndrome: lipoprotein glomerulopathy. (19197098)
2009
22
Renal failure with intracapillary thrombi. Lipoprotein glomerulopathy. (18414445)
2008
23
Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy. (18046082)
2008
24
A complete genomic analysis of the apolipoprotein E gene in Chinese patients with lipoprotein glomerulopathy. (17918142)
2007
25
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity. (17593519)
2007
26
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. (18077821)
2007
27
Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding. (16490634)
2006
28
Clinical and pathological analyses of lipoprotein glomerulopathy]. (15181857)
2004
29
Disappearance of intraglomerular lipoprotein thrombi and marked improvement of nephrotic syndrome by bezafibrate treatment in a patient with lipoprotein glomerulopathy. (12921981)
2003
30
A patient with apolipoprotein E2 variant (Q187E) without lipoprotein glomerulopathy. (11877595)
2002
31
Etiological significance of apolipoprotein E mutations in lipoprotein glomerulopathy. (11852253)
2002
32
Interaction of endothelial cells and triglyceride-rich lipoproteins with apolipoprotein E (Arg-->Cys) from a patient with lipoprotein glomerulopathy. (11833049)
2002
33
Chronic graft-versus-host autoimmune disease in Fc receptor gamma chain-deficient mice results in lipoprotein glomerulopathy. (12039982)
2002
34
Diminished LDL receptor and high heparin binding of apolipoprotein E2 Sendai associated with lipoprotein glomerulopathy. (11181800)
2001
35
A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy. (10684367)
2000
36
Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. (10903326)
2000
37
Apolipoprotein E2/E5 variants in lipoprotein glomerulopathy recurred in transplanted kidney. (10405216)
1999
38
A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy. (10432380)
1999
39
A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy. (10504484)
1999
40
Lipoprotein glomerulopathy: significance of lipoprotein and ultrastructural features. (10412734)
1999
41
Lipoprotein glomerulopathy: a new cause of nephrotic syndrome after renal transplantation. Implications for renal transplantation. (10052520)
1999
42
Association of apolipoprotein E polymorphism with lipoprotein glomerulopathy. Report of 2 cases with a new genotype and comparison of the relative frequencies of apolipoprotein E isoforms in lipoprotein glomerulopathy and in the general population. (9546684)
1998
43
Lipoprotein glomerulopathy and its pathogenesis. (9257045)
1997
44
Lipoprotein glomerulopathy: a pediatric case report. (9090668)
1997
45
A case of lipoprotein glomerulopathy successfully treated with probucol. (8052351)
1994
46
Lipoprotein glomerulopathy. Report of a normolipidemic case and review of the literature. (8322843)
1993
47
Abnormal lipoprotein and apolipoprotein pattern in lipoprotein glomerulopathy. (1951334)
1991
48
A case of lipoprotein glomerulopathy. Light and electron microscopic observations of the glomerulus. (2392939)
1990
49
Lipoprotein glomerulopathy: glomerular lipoprotein thrombi in a patient with hyperlipoproteinemia. (2644825)
1989
50
Similarities between glomerular sclerosis and atherosclerosis in human renal biopsy specimens: a role for lipoprotein glomerulopathy. (2486545)
1989

Variations for Lipoprotein Glomerulopathy

About this section

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

67
id Symbol AA change Variation ID SNP ID
1APOEp.Arg43CysVAR_042734
2APOEp.Arg163ProVAR_042735

Clinvar genetic disease variations for Lipoprotein Glomerulopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1APOENM_000041.3(APOE): c.488G> C (p.Arg163Pro)single nucleotide variantPathogenicrs121918397GRCh37Chr 19, 45412041: 45412041
2APOENM_000041.3(APOE): c.127C> T (p.Arg43Cys)single nucleotide variantPathogenicrs121918399GRCh37Chr 19, 45411100: 45411100

Expression for genes affiliated with Lipoprotein Glomerulopathy

About this section
Search GEO for disease gene expression data for Lipoprotein Glomerulopathy.

Pathways for genes affiliated with Lipoprotein Glomerulopathy

About this section

GO Terms for genes affiliated with Lipoprotein Glomerulopathy

About this section

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:007168210.3APOB, APOE
2intermediate-density lipoprotein particleGO:003436310.3APOB, APOE
3clathrin-coated endocytic vesicle membraneGO:003066910.0APOB, LDLR
4spherical high-density lipoprotein particleGO:003436610.0APOA2, CLU
5low-density lipoprotein particleGO:00343629.8APOB, APOE, LDLR
6chylomicronGO:00426279.8APOA2, APOB, APOE
7very-low-density lipoprotein particleGO:00343619.8APOA2, APOB, APOE
8blood microparticleGO:00725629.5APOA2, APOE, CLU
9high-density lipoprotein particleGO:00343649.4APOA2, APOE, LCAT
10early endosomeGO:00057698.8APOA2, APOB, APOE, LDLR
11Golgi apparatusGO:00057948.7APOB, APOE, CLU, LDLR
12extracellular spaceGO:00056157.7APOA2, APOB, APOE, CLU, LCAT
13extracellular regionGO:00055767.0APOA2, APOB, APOE, CLU, LCAT, LPA

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1protein importGO:001703810.2APOE, CLU
2regulation of beta-amyloid clearanceGO:190022110.2APOE, CLU
3positive regulation of cholesterol esterificationGO:001087310.2APOA2, APOE
4negative regulation of beta-amyloid formationGO:190243010.2APOE, CLU
5positive regulation of neurofibrillary tangle assemblyGO:190299810.2APOE, CLU
6high-density lipoprotein particle assemblyGO:003438010.2APOA2, APOE
7high-density lipoprotein particle clearanceGO:003438410.2APOA2, APOE
8phospholipid effluxGO:003370010.2APOA2, APOE
9positive regulation of beta-amyloid formationGO:190200410.2APOE, CLU
10artery morphogenesisGO:004884410.2APOB, APOE
11triglyceride catabolic processGO:001943310.1APOB, APOE
12positive regulation of neuron deathGO:190121610.1APOE, CLU
13low-density lipoprotein particle clearanceGO:003438310.0APOB, LDLR
14very-low-density lipoprotein particle remodelingGO:003437210.0APOE, LCAT
15triglyceride metabolic processGO:00066419.9APOA2, APOE
16lipoprotein catabolic processGO:00421599.8APOB, APOE, LDLR
17regulation of neuron deathGO:19012149.8APOE, CLU
18low-density lipoprotein particle remodelingGO:00343749.7APOA2, APOB, APOE
19cholesterol effluxGO:00333449.7APOA2, APOB, APOE
20phosphatidylcholine biosynthetic processGO:00066569.6APOA2, LCAT
21lipoprotein biosynthetic processGO:00421589.5APOB, APOE, LCAT
22high-density lipoprotein particle remodelingGO:00343759.3APOA2, APOE, LCAT
23lipid transportGO:00068699.2APOA2, APOB, APOE, LPA
24retinoid metabolic processGO:00015238.9APOA2, APOB, APOE, LDLR
25phototransduction, visible lightGO:00076038.9APOA2, APOB, APOE, LDLR
26reverse cholesterol transportGO:00436918.7APOA2, APOE, CLU, LCAT
27receptor-mediated endocytosisGO:00068988.7APOB, APOE, LDLR, LPA
28cholesterol homeostasisGO:00426328.3APOA2, APOB, APOE, LCAT, LDLR
29cholesterol transportGO:00303018.3APOA2, APOB, APOE, LCAT, LDLR
30cholesterol metabolic processGO:00082038.1APOA2, APOB, APOE, LCAT, LDLR
31lipoprotein metabolic processGO:00421577.9APOA2, APOB, APOE, LCAT, LDLR, LPA
32lipid metabolic processGO:00066297.6APOB, APOE, CLU, LCAT, LDLR, LPA
33small molecule metabolic processGO:00442817.3APOA2, APOB, APOE, LCAT, LDLR, LPA

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.0APOA2, APOE
2low-density lipoprotein particle receptor bindingGO:005075010.0APOB, APOE
3cholesterol bindingGO:001548510.0APOA2, APOE
4cholesterol transporter activityGO:00171279.6APOA2, APOB, APOE
5lipid transporter activityGO:00053199.5APOA2, APOB, APOE
6heparin bindingGO:00082019.1APOB, APOE, LPA
7phospholipid bindingGO:00055439.1APOA2, APOB, APOE
8lipid bindingGO:00082899.1APOA2, APOB, APOE

Sources for Lipoprotein Glomerulopathy

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet