KEGG   DISEASE: C3 glomerulopathy
Entry
H02579                      Disease                                
Name
C3 glomerulopathy
  Subgroup
Complement factor H deficiency (CFHD)
Complement factor I deficiency (CFID)
  Supergrp
Membranoproliferative glomerulonephritis [DS:H01726]
Description
C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies to the C3 and C5 convertases of complement are the most commonly detected drivers of complement dysregulation, although genetic mutations in complement genes can also be found.
Category
Immune system disease; Urinary system disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H02579  C3 glomerulopathy
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the genitourinary system
   Clinical findings in specimens from the urinary system
    MF8Y  Other specified clinical findings in specimens from the urinary system
     H02579  C3 glomerulopathy
Related
pathway
hsa04610  Complement and coagulation cascades
Network
nt06513  Complement cascade
Gene
(C3G1) CFH [HSA:3075] [KO:K04004]
(C3G2) CFI [HSA:3426] [KO:K01333]
(C3G3) CFHR5 [HSA:81494] [KO:K23817]
Other DBs
ICD-11: MF8Y
ICD-10: N03
MeSH: D015432
OMIM: 609814 610984 614809
Reference
  Authors
Heiderscheit AK, Hauer JJ, Smith RJH
  Title
C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease.
  Journal
Am J Med Genet C Semin Med Genet (2022)
DOI:10.1002/ajmg.c.31986
Reference
PMID:9312129 (C3G1)
  Authors
Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR
  Title
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.
  Journal
J Biol Chem 272:25168-75 (1997)
DOI:10.1074/jbc.272.40.25168
Reference
PMID:8613545 (C3G2)
  Authors
Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ
  Title
The molecular basis of hereditary complement factor I deficiency.
  Journal
J Clin Invest 97:925-33 (1996)
DOI:10.1172/JCI118515
Reference
PMID:20800271 (C3G3)
  Authors
Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Fremeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC
  Title
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
  Journal
Lancet 376:794-801 (2010)
DOI:10.1016/S0140-6736(10)60670-8
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