C3G3
MCID: C3G003
MIFTS: 33

C3 Glomerulopathy 3 (C3G3)

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

Aliases & Classifications for C3 Glomerulopathy 3

MalaCards integrated aliases for C3 Glomerulopathy 3:

Name: C3 Glomerulopathy 3 57
Cfhr5 Deficiency 72 29 6 39 70
Nephropathy Due to Cfhr5 Deficiency 57 72 13
C3 Glomerulonephritis 58
Cfhr5 Nephropathy 57
Cfhr5d 72
C3g3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in the first decades of life
hematuria may become apparent after respiratory infections (synpharyngitic)
progression more frequent in men than women
common in individuals of cypriot origin


HPO:

31
c3 glomerulopathy 3:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM® 57 614809
MeSH 44 D005921
ICD10 via Orphanet 33 N03.5
Orphanet 58 ORPHA329931
UMLS 70 C3553720

Summaries for C3 Glomerulopathy 3

OMIM® : 57 C3 glomerulopathy-3 (C3G3) is an autosomal dominant kidney disease characterized by the onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease. After age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease. In some cases, renal dysfunction may be triggered or exacerbated by an infectious disease, often an upper respiratory infection or pharyngitis. Some patients may also develop hypertension. Renal biopsy shows glomerular C3 deposition and mesangial proliferation with glomerulonephritis. Membranoproliferative glomerulonephritis (MPGN) may also be observed on renal biopsy. Males tend to have a more severe phenotype than females and are more likely to develop end-stage renal disease, often necessitating dialysis or renal transplant (summary by Athanasiou et al., 2011). For a general description and discussion of genetic heterogeneity of C3G, see C3G1 (609814). (614809) (Updated 05-Apr-2021)

MalaCards based summary : C3 Glomerulopathy 3, also known as cfhr5 deficiency, is related to c3 glomerulopathy and hemolytic-uremic syndrome. An important gene associated with C3 Glomerulopathy 3 is CFHR5 (Complement Factor H Related 5), and among its related pathways/superpathways is Complement and coagulation cascades. The drugs Complement System Proteins and Antigen-Antibody Complex have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are hematuria and stage 5 chronic kidney disease

UniProtKB/Swiss-Prot : 72 CFHR5 deficiency: A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections.

Related Diseases for C3 Glomerulopathy 3

Diseases in the C3 Glomerulopathy family:

C3 Glomerulopathy 3

Diseases related to C3 Glomerulopathy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 c3 glomerulopathy 30.2 CFHR5 CFHR1
2 hemolytic-uremic syndrome 30.1 CFHR5 CFHR1
3 end stage renal disease 30.0 CFHR5 CFHR1
4 hemolytic uremic syndrome, atypical 1 29.8 CFHR5 CFHR1
5 hemolytic anemia 29.5 CFHR5 CFHR1
6 genetic atypical hemolytic-uremic syndrome 29.4 CFHR5 CFHR1
7 chronic kidney disease 29.4 CFHR5 CFHR1
8 thrombocytopenia 29.2 CFHR5 CFHR1
9 complement factor h deficiency 11.1
10 glomerulonephritis 10.3
11 proliferative glomerulonephritis 10.3
12 nephrotic syndrome 10.2
13 crescentic glomerulonephritis 10.1
14 monoclonal gammopathy of uncertain significance 10.1
15 proteinuria, chronic benign 10.0
16 alport syndrome 10.0
17 membranoproliferative glomerulonephritis 10.0
18 iga glomerulonephritis 10.0
19 kidney disease 10.0
20 dense deposit disease 10.0
21 myeloma, multiple 10.0
22 endocarditis 10.0
23 pustulosis of palm and sole 10.0
24 rapidly progressive glomerulonephritis 10.0
25 mesangial proliferative glomerulonephritis 10.0
26 vasculitis 10.0
27 psoriasis 10.0
28 thrombotic microangiopathy 10.0
29 autoimmune disease 9.9
30 congenital anomalies of kidney and urinary tract 2 9.9
31 leukemia, chronic lymphocytic 9.9
32 renal hypodysplasia/aplasia 1 9.9
33 dent disease 1 9.9
34 granulomatosis with polyangiitis 9.9
35 exanthem 9.9
36 mantle cell lymphoma 9.9
37 lymphoma 9.9
38 igg4-related disease 9.9
39 urinary tract infection 9.9
40 pre-eclampsia 9.9
41 cat-scratch disease 9.9
42 focal segmental glomerulosclerosis 9.9
43 hellp syndrome 9.9
44 acute cystitis 9.9
45 hematologic cancer 9.9
46 lupus erythematosus 9.9
47 pulmonary embolism 9.9
48 anca-associated vasculitis 9.9
49 properdin deficiency 9.9
50 diffuse alveolar hemorrhage 9.9

Graphical network of the top 20 diseases related to C3 Glomerulopathy 3:



Diseases related to C3 Glomerulopathy 3

Symptoms & Phenotypes for C3 Glomerulopathy 3

Human phenotypes related to C3 Glomerulopathy 3:

31
# Description HPO Frequency HPO Source Accession
1 hematuria 31 HP:0000790
2 stage 5 chronic kidney disease 31 HP:0003774
3 glomerulonephritis 31 HP:0000099

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Genitourinary Kidneys:
hematuria
glomerulonephritis
renal failure
end-stage renal disease
glomerular c3 deposits, subendothelial and mesangial
more

Clinical features from OMIM®:

614809 (Updated 05-Apr-2021)

Drugs & Therapeutics for C3 Glomerulopathy 3

Drugs for C3 Glomerulopathy 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins Phase 2
2 Antigen-Antibody Complex Phase 2
3 Immunoglobulin A Phase 2

Interventional clinical trials:


# 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 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
3 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
4 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 3

Genetic Tests for C3 Glomerulopathy 3

Genetic tests related to C3 Glomerulopathy 3:

# Genetic test Affiliating Genes
1 Cfhr5 Deficiency 29 CFHR5

Anatomical Context for C3 Glomerulopathy 3

MalaCards organs/tissues related to C3 Glomerulopathy 3:

40
Kidney

Publications for C3 Glomerulopathy 3

Articles related to C3 Glomerulopathy 3:

# Title Authors PMID Year
1
Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency. 57 6
22503529 2012
2
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. 57 6
20800271 2010
3
The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy. 57
32928961 2020
4
A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl. 57
24536001 2014
5
Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees. 57
21566112 2011
6
A complement to kidney disease: CFHR5 nephropathy. 57
20800272 2010
7
Guanine tetraplex formation by short DNA fragments containing runs of guanine and cytosine. 61
9336200 1997
8
Conformational analysis of d(C3G3), a B-family duplex in solution. 61
2730876 1989

Variations for C3 Glomerulopathy 3

ClinVar genetic disease variations for C3 Glomerulopathy 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFHR5 NM_030787.3(CFHR5):c.678del (p.Glu226fs) Deletion Pathogenic 226110 rs368209619 GRCh37: 1:196964916-196964916
GRCh38: 1:196995786-196995786
2 CFHR5 NM_030787.3(CFHR5):c.993C>A (p.Cys331Ter) SNV Pathogenic 523049 rs751010317 GRCh37: 1:196967280-196967280
GRCh38: 1:196998150-196998150
3 CFHR5 NM_030787.4(CFHR5):c.59-1806_430+3225dup Duplication Pathogenic 37236 GRCh37: 1:196950208-196950209
GRCh38: 1:196981078-196981079
4 CFHR5 NM_030787.4(CFHR5):c.436G>T (p.Glu146Ter) SNV Pathogenic 998387 GRCh37: 1:196963215-196963215
GRCh38: 1:196994085-196994085
5 CFHR5 NM_030787.4(CFHR5):c.486dup (p.Glu163fs) Duplication Conflicting interpretations of pathogenicity 402534 rs565457964 GRCh37: 1:196963258-196963259
GRCh38: 1:196994128-196994129
6 CFHR5 NM_030787.4(CFHR5):c.1A>G (p.Met1Val) SNV Uncertain significance 1028902 GRCh37: 1:196946795-196946795
GRCh38: 1:196977665-196977665
7 CFHR5 NM_030787.3(CFHR5):c.880G>A (p.Glu294Lys) SNV Uncertain significance 294547 rs201084185 GRCh37: 1:196965241-196965241
GRCh38: 1:196996111-196996111
8 CFHR5 NM_030787.4(CFHR5):c.14T>A (p.Phe5Tyr) SNV Uncertain significance 982718 GRCh37: 1:196946808-196946808
GRCh38: 1:196977678-196977678
9 CFHR5 NM_030787.3(CFHR5):c.485_486dup (p.Glu163fs) Duplication Uncertain significance 294541 rs565457964 GRCh37: 1:196963258-196963259
GRCh38: 1:196994128-196994129

Expression for C3 Glomerulopathy 3

Search GEO for disease gene expression data for C3 Glomerulopathy 3.

Pathways for C3 Glomerulopathy 3

Pathways related to C3 Glomerulopathy 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 CFHR5 CFHR1

GO Terms for C3 Glomerulopathy 3

Cellular components related to C3 Glomerulopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 CFHR5 CFHR1

Biological processes related to C3 Glomerulopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of complement activation GO:0030449 9.16 CFHR5 CFHR1
2 negative regulation of protein binding GO:0032091 8.96 CFHR5 CFHR1
3 cytolysis by host of symbiont cells GO:0051838 8.62 CFHR5 CFHR1

Sources for C3 Glomerulopathy 3

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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