MCID: LPP002
MIFTS: 46

Lipoprotein Glomerulopathy malady

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

Aliases & Classifications for Lipoprotein Glomerulopathy

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Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 35MedGen
See all MalaCards sources

Aliases & Descriptions for Lipoprotein Glomerulopathy:

Name: Lipoprotein Glomerulopathy 50 52 68 25 12 66
 
Lpg 52 68

Characteristics:

Orphanet epidemiological data:

52
lipoprotein glomerulopathy:
Inheritance: Autosomal dominant; Age of onset: All ages

Classifications:



External Ids:

OMIM50 611771
Orphanet52 ORPHA329481
ICD10 via Orphanet29 N07.8
MedGen35 C2673196

Summaries for Lipoprotein Glomerulopathy

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OMIM:50 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 respiratory syncytial virus infectious disease and dysmorphism-pectus carinatum-joint laxity syndrome, 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 Pathways: Uptake and Degradation. Affiliated tissues include kidney and endothelial, and related mouse phenotypes are pigmentation and liver/biliary system.

UniProtKB/Swiss-Prot:68 Lipoprotein glomerulopathy: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.

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 55)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory syncytial virus infectious disease10.4APOE, LPA
2dysmorphism-pectus carinatum-joint laxity syndrome10.3APOB, APOE
3casr-related disorders10.3APOB, APOE
4islet cell tumor10.3APOB, APOE
5nephrotic syndrome10.2
6peripheral degeneration of cornea10.2APOB, APOE
7pontocerebellar hypoplasia10.2APOB, APOE
8bone angioendothelial sarcoma10.2APOB, LPA
9atherosclerosis10.1
10dermal unilateral segmental cavernous angioma10.0APOB, APOE, LPA
11afibrinogenemia, congenital10.0APOA2, LPA
12night blindness, congenital stationary , 1d, autosomal recessive10.0APOE, CLU
13lipoprotein glomerulopathy10.0APOE, LCAT
14hemochromatosis, type 510.0APOE, LDLR
15glossopharyngeal nerve neoplasm10.0APOB, APOE, LPA
16iron metabolism disease9.9APOB, APOE, LPA
17littre gland carcinoma9.9APOB, APOE, LPA
18arthritis9.9APOE, LDLR, LPA
19stroke, ischemic9.9APOB, APOE, LPA
20angina pectoris9.9APOB, LPA
21hypercholesterolemia, due to ligand-defective apo b9.9APOB, APOE, LDLR
22surf1-related charcot-marie-tooth disease type 49.9APOB, APOE, LDLR
23cardiomyopathy, dilated, 1u9.9APOE, CLU
24fetal methyl mercury syndrome9.8APOB, LCAT
25glomerulonephritis9.8
26gamma chain deficiency9.8
27malignant hypertension9.8
28psoriasis9.8
29fibrillary glomerulonephritis9.8
30endotheliitis9.8
31blue toe syndrome9.8APOB, LCAT
32tyrosinemia, type ii9.8APOA2, LCAT
33wolfram syndrome 29.6APOB, APOE, LCAT
34rubinstein taybi like syndrome9.5APOB, APOE, LDLR, LPA
35keratoacanthoma9.5APOB, APOE, LDLR, LPA
36adrenal rest tumor9.5APOB, APOE, LDLR, LPA
37autoimmune hepatitis9.5APOB, APOE, LDLR, LPA
38dyserythropoietic anemia, congenital, type ii9.3LCAT, LPA
39chondrocalcinosis with early-onset osteoarthritis9.2APOB, APOE, LCAT, LPA
40degos 'en cocarde' erythrokeratoderma9.1APOB, APOE, LCAT, LDLR
41hypobetalipoproteinemia9.1APOB, APOE, LCAT, LDLR
42inflamed seborrheic keratosis9.0APOA2, APOB, APOE, LDLR, LPA
43immunodeficiency 199.0APOA2, APOB, APOE, LDLR, LPA
44myocardial infarction9.0APOA2, APOB, APOE, LDLR, LPA
45hyperlipidemia, familial combined9.0APOA2, APOB, LCAT, LDLR
46cataract 5, multiple types9.0APOA2, APOB, LCAT, LDLR
47polyneuropathy8.7APOA2, APOB, APOE, LCAT, LPA
48obesity, hyperphagia, and developmental delay8.7APOA2, APOB, APOE, LCAT, LPA
49bladder diverticulum8.2APOA2, APOB, APOE, LCAT, LDLR, LPA
50von willebrand disease, platelet-type8.2APOA2, 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

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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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Uric acid12769-93-21175
Synonyms:
1H-Purine-2,6,8-triol
2,6,8-Trihydroxypurine
2,6,8-Trioxopurine
2,6,8-Trioxypurine
 
7,9-dihydro-1H-purine-2,6,8(3H)-trione
Lithate
Lithic acid
Purine-2,6,8(1H,3H,9H)-trione
Urate
Uric acid
2
Sevelamer7352757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
3
Irbesartan99138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
4
angiotensin II113568521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II

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 GlomerulopathyRecruitingNCT02644486

Search NIH Clinical Center for Lipoprotein Glomerulopathy

Genetic Tests for Lipoprotein Glomerulopathy

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Genetic tests related to Lipoprotein Glomerulopathy:

id Genetic test Affiliating Genes
1 Lipoprotein Glomerulopathy25

Anatomical Context for Lipoprotein Glomerulopathy

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MalaCards organs/tissues related to Lipoprotein Glomerulopathy:

34
Kidney, Endothelial

Animal Models for Lipoprotein Glomerulopathy or affiliated genes

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MGI Mouse Phenotypes related to Lipoprotein Glomerulopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4APOB, APOE, LDLR
2MP:00053708.6APOB, APOE, LCAT, LDLR
3MP:00053857.4APOB, APOE, CLU, LCAT, LDLR
4MP:00053767.2APOA2, APOB, APOE, CLU, LCAT, LDLR

Publications for Lipoprotein Glomerulopathy

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Articles related to Lipoprotein Glomerulopathy:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
SPONTANEOUS LIPOPROTEIN GLOMERULOPATHY-LIKE NEPHROPATHY IN A SQUIRREL (SCIURUS VULGARIS). (27468047)
2016
2
Lipoprotein glomerulopathy: a case report of a rare disease in a Brazilian child. (24676620)
2014
3
Macrophage-derived apoESendai suppresses atherosclerosis while causing lipoprotein glomerulopathy in hyperlipidemic mice. (25183802)
2014
4
Lipoprotein glomerulopathy may provide a key to unlock the puzzles of renal lipidosis. (24487366)
2014
5
Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia. (24570178)
2014
6
Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis. (25852917)
2014
7
Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. (24025644)
2013
8
A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension. (23448537)
2013
9
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy. (24149834)
2013
10
Topics in lipoprotein glomerulopathy: an overview. (24149835)
2013
11
Lipoprotein glomerulopathy in China. (24165683)
2013
12
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. (23407349)
2013
13
A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy. (22874113)
2012
14
Scavenger receptor expressions in the kidneys of mice with lipoprotein glomerulopathy. (22072188)
2012
15
Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy]. (22487820)
2012
16
A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. (21325775)
2011
17
A rare case of lipoprotein glomerulopathy in a white man: an emerging entity in Asia, rare in the white population. (20121619)
2010
18
Common apolipoprotein E gene mutations contribute to lipoprotein glomerulopathy in China. (20090368)
2010
19
A rare cause of nephrotic syndrome: lipoprotein glomerulopathy. (19197098)
2009
20
Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy. (19603250)
2009
21
Lipoprotein glomerulopathy treated with LDL-apheresis (Heparin-induced Extracorporeal Lipoprotein Precipitation system): a case report. (20062740)
2009
22
Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy. (18264944)
2008
23
A novel apolipoprotein E mutation, ApoE Tsukuba (Arg 114 Cys), in lipoprotein glomerulopathy. (17967799)
2008
24
Renal failure with intracapillary thrombi. Lipoprotein glomerulopathy. (18414445)
2008
25
A complete genomic analysis of the apolipoprotein E gene in Chinese patients with lipoprotein glomerulopathy. (17918142)
2007
26
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. (18077821)
2007
27
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity. (17593519)
2007
28
Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding. (16490634)
2006
29
Clinical and pathological analyses of lipoprotein glomerulopathy]. (15181857)
2004
30
Disappearance of intraglomerular lipoprotein thrombi and marked improvement of nephrotic syndrome by bezafibrate treatment in a patient with lipoprotein glomerulopathy. (12921981)
2003
31
Resolution of typical lipoprotein glomerulopathy by intensive lipid-lowering therapy. (12500244)
2003
32
A patient with apolipoprotein E2 variant (Q187E) without lipoprotein glomerulopathy. (11877595)
2002
33
Interaction of endothelial cells and triglyceride-rich lipoproteins with apolipoprotein E (Arg-->Cys) from a patient with lipoprotein glomerulopathy. (11833049)
2002
34
Diminished LDL receptor and high heparin binding of apolipoprotein E2 Sendai associated with lipoprotein glomerulopathy. (11181800)
2001
35
A newborn infant with lipoprotein glomerulopathy associated with congenital nephrotic syndrome. (11208006)
2001
36
A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy. (10684367)
2000
37
A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy. (10504484)
1999
38
Lipoprotein glomerulopathy: a new cause of nephrotic syndrome after renal transplantation. Implications for renal transplantation. (10052520)
1999
39
Apolipoprotein E2/E5 variants in lipoprotein glomerulopathy recurred in transplanted kidney. (10405216)
1999
40
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
41
Lipoprotein glomerulopathy and its pathogenesis. (9257045)
1997
42
Lipoprotein glomerulopathy: a pediatric case report. (9090668)
1997
43
Lipoprotein glomerulopathy: a new apolipoprotein-E-related disease that recurs after renal transplantation. (9270770)
1997
44
Lipoprotein glomerulopathy: a new role for apolipoprotein E? (9176856)
1997
45
Lipoprotein glomerulopathy: first case in a white European. (7624001)
1995
46
Lipoprotein glomerulopathy with a new apolipoprotein E phenotype. (7771495)
1995
47
A case of lipoprotein glomerulopathy successfully treated with probucol. (8052351)
1994
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

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

68
id Symbol AA change Variation ID SNP ID
1APOEp.Arg43CysVAR_042734rs121918399
2APOEp.Arg163ProVAR_042735rs121918397

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

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Search GEO for disease gene expression data for Lipoprotein Glomerulopathy.

Pathways for genes affiliated with Lipoprotein Glomerulopathy

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

idSuper pathwaysScoreTop Affiliating Genes
19.6APOB, LPA
29.6APOE, LDLR
3
Show member pathways
8.6APOA2, APOB, APOE, LDLR
4
Show member pathways
8.6APOA2, APOB, APOE, LDLR
5
Show member pathways
7.8APOA2, APOB, APOE, LCAT, LDLR
6
Show member pathways
7.4APOA2, APOB, APOE, LCAT, LDLR, LPA
7
Show member pathways
7.4APOA2, APOB, APOE, LCAT, LDLR, LPA

GO Terms for genes affiliated with Lipoprotein Glomerulopathy

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:003436310.4APOB, APOE
2endocytic vesicle lumenGO:007168210.3APOB, APOE
3clathrin-coated endocytic vesicle membraneGO:003066910.1APOB, LDLR
4spherical high-density lipoprotein particleGO:003436610.0APOA2, CLU
5chylomicronGO:00426279.8APOA2, APOB, APOE
6low-density lipoprotein particleGO:00343629.8APOB, APOE, LDLR
7very-low-density lipoprotein particleGO:00343619.8APOA2, APOB, APOE
8high-density lipoprotein particleGO:00343649.4APOA2, APOE, LCAT
9blood microparticleGO:00725629.1APOA2, APOE, CLU
10early endosomeGO:00057699.0APOA2, APOB, APOE, LDLR
11Golgi apparatusGO:00057948.5APOB, APOE, CLU, LDLR
12extracellular spaceGO:00056157.4APOA2, APOB, APOE, CLU, LCAT
13extracellular regionGO:00055767.2APOA2, APOB, APOE, CLU, LCAT, LPA

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cholesterol esterificationGO:001087310.2APOA2, APOE
2phospholipid effluxGO:003370010.2APOA2, APOE
3high-density lipoprotein particle clearanceGO:003438410.1APOA2, APOE
4high-density lipoprotein particle assemblyGO:003438010.1APOA2, APOE
5artery morphogenesisGO:004884410.1APOB, APOE
6lipid transportGO:000686910.0APOA2, LPA
7triglyceride catabolic processGO:00194339.9APOB, APOE
8negative regulation of beta-amyloid formationGO:19024309.9APOE, CLU
9protein importGO:00170389.9APOE, CLU
10regulation of beta-amyloid clearanceGO:19002219.9APOE, CLU
11triglyceride metabolic processGO:00066419.8APOA2, APOE
12very-low-density lipoprotein particle remodelingGO:00343729.8APOE, LCAT
13low-density lipoprotein particle clearanceGO:00343839.7APOB, LDLR
14lipoprotein catabolic processGO:00421599.7APOB, APOE, LDLR
15cholesterol effluxGO:00333449.7APOA2, APOB, APOE
16low-density lipoprotein particle remodelingGO:00343749.6APOA2, APOB, APOE
17phosphatidylcholine biosynthetic processGO:00066569.6APOA2, LCAT
18high-density lipoprotein particle remodelingGO:00343759.2APOA2, APOE, LCAT
19retinoid metabolic processGO:00015239.2APOA2, APOB, APOE
20receptor-mediated endocytosisGO:00068989.1APOB, APOE, LDLR
21lipoprotein biosynthetic processGO:00421588.9APOA2, APOB, APOE, LCAT
22cholesterol transportGO:00303018.6APOA2, APOB, LCAT, LDLR
23reverse cholesterol transportGO:00436918.6APOA2, APOE, CLU, LCAT
24lipid metabolic processGO:00066298.3APOB, APOE, CLU, LDLR, LPA
25cholesterol homeostasisGO:00426327.9APOA2, APOB, APOE, LCAT, LDLR
26cholesterol metabolic processGO:00082037.9APOA2, APOB, APOE, LCAT, LDLR
27lipoprotein metabolic processGO:00421577.7APOA2, 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:006022810.1APOA2, APOE
2lipid transporter activityGO:000531910.0APOA2, APOE
3cholesterol bindingGO:001548510.0APOA2, APOE
4low-density lipoprotein particle receptor bindingGO:00507509.5APOB, APOE
5cholesterol transporter activityGO:00171279.5APOA2, APOB, APOE
6heparin bindingGO:00082019.5APOB, APOE, LPA
7phospholipid bindingGO:00055439.2APOA2, APOB, APOE
8lipid bindingGO:00082899.1APOA2, APOB, APOE

Sources for Lipoprotein Glomerulopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet