DDD
MCID: C3G002
MIFTS: 46

C3 Glomerulopathy (DDD)

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for C3 Glomerulopathy

MalaCards integrated aliases for C3 Glomerulopathy:

Name: C3 Glomerulopathy 25 43 58
C3 Glomerulonephritis 43 29 70
C3g 25 43
Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 58
Non-Ig-Mediated Membranoproliferative Glomerulonephritis 58
Membranoproliferative Glomerulonephritis, Type Ii 70
Membranoproliferative Glomerulonephritis Type Ii 43
Glomerulonephritis with Dominant C3 25
Non-Immunoglobulin-Mediated Mpgn 58
Dense Deposit Disease 43
Non-Ig-Mediated Mpgn 58
Ddd/mpgnii 43
Ddd 43

Characteristics:

Orphanet epidemiological data:

58
c3 glomerulopathy
Prevalence: 1-9/1000000 (Europe);

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 N03.5
Orphanet 58 ORPHA329918
UMLS 70 C0268743 C4055342

Summaries for C3 Glomerulopathy

MedlinePlus Genetics : 43 C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.

MalaCards based summary : C3 Glomerulopathy, also known as c3 glomerulonephritis, is related to c3 glomerulopathy 3 and complement factor h deficiency. An important gene associated with C3 Glomerulopathy is C3 (Complement C3), and among its related pathways/superpathways are Innate Immune System and Creation of C4 and C2 activators. The drugs Enalaprilat and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include kidney, retina and eye, and related phenotypes are hematuria and hypertension

Wikipedia : 73 Glomerulonephritis (GN) is a term used to refer to several kidney diseases (usually affecting both... more...

GeneReviews: NBK1425

Related Diseases for C3 Glomerulopathy

Diseases in the C3 Glomerulopathy family:

C3 Glomerulopathy 3

Diseases related to C3 Glomerulopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 258)
# Related Disease Score Top Affiliating Genes
1 c3 glomerulopathy 3 32.6 CFHR5 CFHR1
2 complement factor h deficiency 32.0 CFI CFHR1 CFH CD46
3 complement factor i deficiency 31.8 CFP CFI C3
4 proliferative glomerulonephritis 30.7 CFH C3
5 basal laminar drusen 30.5 CFH CFB
6 dense deposit disease 30.2 DGKE CFHR5 CFHR2 CFH CFB C3
7 malignant hypertension 30.0 CFHR2 CFH
8 diffuse glomerulonephritis 30.0 CFP C3
9 membranoproliferative glomerulonephritis 30.0 DGKE CFP CFHR5 CFHR2 CFH CFB
10 glomerulonephritis 29.9 CFP CFI CFHR5 CFH CD46 C3
11 end stage renal disease 29.9 CFHR5 CFHR3 CFHR1 CFH CD46 C3
12 nephrotic syndrome, type 7 29.9 DGKE CFH
13 rapidly progressive glomerulonephritis 29.9 CFP C3
14 chronic kidney disease 29.6 CFI CFHR5 CFHR1 CFH
15 iga glomerulonephritis 29.5 CFP CFHR2 CFH C3
16 meningococcal meningitis 29.5 CFP CFHR2 CFH
17 hellp syndrome 29.5 CFI CFH CD46
18 acute poststreptococcal glomerulonephritis 29.5 CFP CFHR5 CFHR2 C3
19 thrombotic thrombocytopenic purpura 29.4 CFI CFH CD46 C3
20 complement component 3 deficiency 28.9 CFP CFHR2 CFH CD46 C3
21 systemic lupus erythematosus 28.9 CFI CFHR2 CFB CD46 C3
22 exudative glomerulonephritis 28.8 DGKE CFHR5 CFHR3 CFHR2 CFHR1 CFH
23 retinal drusen 28.6 CFI CFHR3 CFHR2 CFHR1 CFH CFB
24 hemolytic-uremic syndrome 28.4 DGKE CFI CFHR5 CFHR3 CFHR2 CFHR1
25 genetic atypical hemolytic-uremic syndrome 28.0 DGKE CFI CFHR5 CFHR3 CFHR1 CFH
26 thrombocytopenia 28.0 DGKE CFI CFHR5 CFHR3 CFHR1 CFH
27 hemolytic anemia 27.8 DGKE CFI CFHR5 CFHR3 CFHR1 CFH
28 hemolytic uremic syndrome, atypical 1 27.7 DGKE CFP CFI CFHR5 CFHR3 CFHR2
29 macular degeneration, age-related, 1 27.2 CFP CFI CFHR5 CFHR3 CFHR2 CFHR1
30 dowling-degos disease 1 11.4
31 dowling-degos disease 2 11.1
32 dowling-degos disease 11.0
33 acne inversa, familial, 2, with or without dowling-degos disease 10.9
34 degenerative disc disease 10.9
35 proteinuria, chronic benign 10.7
36 atrioventricular block 10.7
37 sick sinus syndrome 10.6
38 adrenal cortical carcinoma 10.5
39 nephrotic syndrome 10.5
40 adrenocortical carcinoma, hereditary 10.4
41 adrenal cortical adenocarcinoma 10.4
42 generalized epilepsy with febrile seizures plus 10.3
43 glomerulopathy with fibronectin deposits 2 10.3
44 fibrillary glomerulonephritis 10.3
45 immunotactoid glomerulopathy 10.3
46 immunotactoid or fibrillary glomerulopathy 10.3
47 collagen type iii glomerulopathy 10.3
48 syncope 10.3
49 atrial standstill 1 10.3
50 leukemia, chronic myeloid 10.2

Graphical network of the top 20 diseases related to C3 Glomerulopathy:



Diseases related to C3 Glomerulopathy

Symptoms & Phenotypes for C3 Glomerulopathy

Human phenotypes related to C3 Glomerulopathy:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
2 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
3 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
4 stage 5 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0003774
5 decreased serum complement c3 58 31 frequent (33%) Frequent (79-30%) HP:0005421
6 elevated serum creatinine 58 31 frequent (33%) Frequent (79-30%) HP:0003259
7 paraproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0031047
8 membranoproliferative glomerulonephritis 58 31 frequent (33%) Frequent (79-30%) HP:0000793
9 c3 nephritic factor positivity 58 31 frequent (33%) Frequent (79-30%) HP:0030888
10 mesangial hypercellularity 58 31 frequent (33%) Frequent (79-30%) HP:0012574
11 glomerular extracapillary hypercellularity 31 frequent (33%) HP:0025364
12 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
13 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
14 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
15 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
16 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
17 decreased serum complement c4 58 31 occasional (7.5%) Occasional (29-5%) HP:0045042
18 drusen 58 31 occasional (7.5%) Occasional (29-5%) HP:0011510
19 central serous chorioretinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0025567
20 abnormal dark-adapted electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0030469
21 autoimmunity 58 Occasional (29-5%)
22 chronic kidney disease 58 Frequent (79-30%)
23 yellow/white lesions of the retina 58 Occasional (29-5%)
24 extracapillary hypercellularity 58 Frequent (79-30%)

Drugs & Therapeutics for C3 Glomerulopathy

Drugs for C3 Glomerulopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalaprilat Approved Phase 2 76420-72-9 6917719
2
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
3
Daratumumab Approved Phase 2 945721-28-8
4 Angiotensin-Converting Enzyme Inhibitors Phase 2
5
protease inhibitors Phase 2
6 Antihypertensive Agents Phase 2
7 HIV Protease Inhibitors Phase 2
8 Immunoglobulin A Phase 2
9 Complement System Proteins Phase 2
10 Antigen-Antibody Complex Phase 2
11
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Phase 2a Proof-of-Mechanism, Open-Label Study to Determine the Effect of ACH-0144471 on C3 Levels in Patients With Low C3 Levels Due to Either C3 Glomerulopathy (C3G) or Immune-Complex Membranoproliferative Glomerulonephritis (IC-MPGN) Completed NCT03124368 Phase 2 ACH-0144471
2 A Randomized, Double Blind, Placebo Controlled Phase 2 Study to Evaluate the Safety and Efficacy of Avacopan (CCX168) in Patients With C3 Glomerulopathy Recruiting NCT03301467 Phase 2 Avacopan;Avacopan Matching Placebo
3 A Phase 2 Study to Evaluate the Safety and Effect on Proteinuria of OMS721 in Subjects With IgA Nephropathy, Lupus Nephritis, Membranous Nephropathy, or C3 Glomerulopathy Including Dense Deposit Disease Recruiting NCT02682407 Phase 2
4 An Open-label, Non-randomized Extension Study to Evaluate the Long-term Efficacy, Safety and Tolerability of LNP023 in Subjects With C3 Glomerulopathy Recruiting NCT03955445 Phase 2 LNP023
5 Phase 2, Multicenter, Randomized, Open-label, Controlled, 2-arm Cross-over Study to Evaluate the Clinical Efficacy of a Renin Inhibitor, Aliskiren, Compared to an Angiotensin Converting Enzyme Inhibitor, Enalapril, in C3 Glomerulopathy Recruiting NCT04183101 Phase 2 Aliskiren;Enalapril
6 An Open-label, Non-randomized Study on Efficacy, Pharmacokinetics, Pharmacodynamics, Safety and Tolerability of LNP023 in Two Patient Populations With C3 Glomerulopathy Recruiting NCT03832114 Phase 2 LNP023
7 A Phase 2 Study to Evaluate the Safety and Biologic Activity of APL- 2 in Patients With IgA Nephropathy, Lupus Nephritis, Primary Membranous Nephropathy, or C3 Glomerulopathy (C3 Glomerulonephritis and Dense Deposit Disease) Active, not recruiting NCT03453619 Phase 2 APL-2
8 An Open-Label Phase 2 Proof-of-Concept Study in Patients With C3 Glomerulopathy (C3G) or Immune-Complex Membranoproliferative Glomerulonephritis (IC-MPGN) Treated With ACH-0144471 Active, not recruiting NCT03459443 Phase 2 ACH-0144471
9 A Phase 2, Proof-of-Concept, Randomized, Double-Blinded, Placebo-Controlled Study of ACH-0144471 Treatment for 6 Months in Patients With C3 Glomerulopathy (C3G) Active, not recruiting NCT03369236 Phase 2 ACH-0144471;Placebo
10 Single-center Phase 2 Open-label Trial Evaluating Efficacy and Safety of Daratumumab in Treatment of Patients With Proliferative Glomerulonephritis With Monoclonal Immune Deposits and C3 Glomerulopathy Associated With Monoclonal Gammopathy Active, not recruiting NCT03095118 Phase 2 Daratumumab
11 Eculizumab Therapy for Dense Deposit Disease and C3 Nephropathy Completed NCT01221181 Phase 1 Eculizumab
12 A Pilot, Open-label, Multicenter Clinical Trial of CDX-1135 in Pediatric and Adult Patients With Dense Deposit Disease Terminated NCT01791686 Phase 1 CDX-1135
13 A Pilot, Open-Label Single Center Trial of TP10 in Pediatric and Adult Patients With C3 Glomerulopathy (C3G) Withdrawn NCT02302755 Phase 1 TP10
14 Sulodexide Treatment in Patients With Dense Deposit Disease Withdrawn NCT00583427 Phase 1 Sulodexide
15 Sub-project of the Clinical Protocol ACH471-205 "An Open-Label Phase 2 Proof-of-Concept Study in Patients With C3 Glomerulopathy (C3G) or Immune-Complex Membranoproliferative Glomerulonephritis (IC-MPGN) Treated With ACH-0144471" Active, not recruiting NCT03723512

Search NIH Clinical Center for C3 Glomerulopathy

Genetic Tests for C3 Glomerulopathy

Genetic tests related to C3 Glomerulopathy:

# Genetic test Affiliating Genes
1 C3 Glomerulonephritis 29

Anatomical Context for C3 Glomerulopathy

MalaCards organs/tissues related to C3 Glomerulopathy:

40
Kidney, Retina, Eye, Adipocyte, Endothelial, Neutrophil

Publications for C3 Glomerulopathy

Articles related to C3 Glomerulopathy:

(show top 50) (show all 447)
# Title Authors PMID Year
1
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. 25 61
29500241 2018
2
Complete functional characterization of disease-associated genetic variants in the complement factor H gene. 25 61
28941939 2018
3
C4 Nephritic Factors in C3 Glomerulopathy: A Case Series. 61 25
28838767 2017
4
A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. 25 61
28729035 2017
5
Treatment of B-cell disorder improves renal outcome of patients with monoclonal gammopathy-associated C3 glomerulopathy. 25 61
28069603 2017
6
Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. 61 25
27989322 2017
7
C3 glomerulopathy. 25 61
28357053 2017
8
C3 Glomerulopathy. 25 61
27056062 2017
9
Complement related kidney diseases: Recurrence after transplantation. 61 25
28058212 2016
10
Retinal disease in the C3 glomerulopathies and the risk of impaired vision. 61 25
26915021 2016
11
Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene. 61 25
27490940 2016
12
Revisiting post-infectious glomerulonephritis in the emerging era of C3 glomerulopathy. 61 25
27274823 2016
13
Complement inhibition in C3 glomerulopathy. 25 61
27402056 2016
14
Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN. 25 61
26567243 2016
15
Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases. 61 25
26376859 2016
16
Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome. 61 25
26895476 2016
17
SHEDDING LIGHT ON FUNDUS DRUSEN ASSOCIATED WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS: BREAKING STEREOTYPES OF TYPES I, II, AND III. 25 61
26110522 2016
18
Effectiveness of mycophenolate mofetil in C3 glomerulonephritis. 61 25
26221755 2015
19
The role of complement in C3 glomerulopathy. 25 61
25929733 2015
20
Glomerular Diseases Dependent on Complement Activation, Including Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, and C3 Glomerulopathy: Core Curriculum 2015. 61 25
26032627 2015
21
Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B. 61 25
25758434 2015
22
Current concepts in C3 glomerulopathy. 25 61
25484526 2014
23
Making sense of the spectrum of glomerular disease associated with complement dysregulation. 61 25
23852337 2014
24
A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl. 25 61
24536001 2014
25
Treatment of C3 glomerulopathy with complement blockers. 61 25
24799307 2014
26
C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. 25 61
24799308 2014
27
Clinical findings, pathology, and outcomes of C3GN after kidney transplantation. 61 25
24357668 2014
28
A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry. 61 25
24067434 2014
29
Complement factor H-related hybrid protein deregulates complement in dense deposit disease. 25 61
24334459 2014
30
C3 nephritic factor associated with C3 glomerulopathy in children. 25 61
24068526 2014
31
C3 glomerulopathy: consensus report. 25 61
24172683 2013
32
Diagnosis and treatment of C3 glomerulopathy. 61 25
23993166 2013
33
Soluble CR1 therapy improves complement regulation in C3 glomerulopathy. 61 25
23907509 2013
34
Dense deposit disease and C3 glomerulopathy. 25 61
24161036 2013
35
Recent insights into C3 glomerulopathy. 61 25
23479095 2013
36
C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. 25 61
23728178 2013
37
Treatment options for C3 glomerulopathy. 61 25
23318699 2013
38
C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families. 25 61
23402027 2013
39
C3 glomerulopathy. 25 61
23689580 2013
40
C3 glomerulopathy: what's in a name? 61 25
22846813 2012
41
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. 61 25
22673887 2012
42
A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. 25 61
22626820 2012
43
Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency. 61 25
22503529 2012
44
Eculizumab for dense deposit disease and C3 glomerulonephritis. 61 25
22403278 2012
45
Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion. 25 61
22157657 2012
46
Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees. 25 61
21566112 2011
47
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. 61 25
20800271 2010
48
Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. 61 25
17914026 2008
49
What we do and do not know about women and kidney diseases; questions unanswered and answers unquestioned: reflection on World Kidney Day and International Woman's Day. 25
29544451 2018
50
Successful pregnancy in a CKD patient on a low-protein, supplemented diet: an opportunity to reflect on CKD and pregnancy in Mexico, an emerging country. 25
28918595 2017

Variations for C3 Glomerulopathy

Expression for C3 Glomerulopathy

Search GEO for disease gene expression data for C3 Glomerulopathy.

Pathways for C3 Glomerulopathy

Pathways related to C3 Glomerulopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 CFP CFI CFHR3 CFH CFB CD46
2
Show member pathways
11.79 CFI CFHR3 CFH CFB CD46 C3
3
Show member pathways
11.7 CFP CFI CFHR3 CFH CFB CD46
4 11.54 CFI CFH CFB C3
5 11.44 CFI CFHR5 CFHR3 CFHR2 CFHR1 CFH
6
Show member pathways
11.41 CFP CFB C3

GO Terms for C3 Glomerulopathy

Cellular components related to C3 Glomerulopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 CFI CFHR3 CFH CFB CD46 C3
2 extracellular space GO:0005615 9.7 CFP CFI CFHR3 CFHR1 CFH CFB
3 protein-containing complex GO:0032991 9.62 CFHR5 CFHR2 CFHR1 C3
4 extracellular region GO:0005576 9.61 CFP CFI CFHR5 CFHR3 CFHR2 CFHR1
5 blood microparticle GO:0072562 9.02 CFHR3 CFHR1 CFH CFB C3

Biological processes related to C3 Glomerulopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.85 CFP CFI CFH CFB CD46 C3
2 innate immune response GO:0045087 9.8 CFP CFI CFH CFB CD46 C3
3 complement activation, classical pathway GO:0006958 9.61 CFI CD46 C3
4 negative regulation of protein binding GO:0032091 9.58 CFHR5 CFHR2 CFHR1
5 complement activation GO:0006956 9.55 CFP CFHR1 CFH CFB C3
6 cytolysis by host of symbiont cells GO:0051838 9.43 CFHR5 CFHR2 CFHR1
7 complement activation, alternative pathway GO:0006957 9.35 CFP CFHR5 CFH CFB C3
8 regulation of complement activation GO:0030449 9.28 CFP CFI CFHR5 CFHR2 CFHR1 CFH

Sources for C3 Glomerulopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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