KEGG   VARIANT: 3426v1
Entry
3426v1                      Variant                                
Name
CFI mutation
Type
Loss of function
Gene
CFI  complement factor I [KO:K01333]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 217030
Network
nt06513  Complement cascade
Disease
H00106  Complement regulatory protein defects
H00821  Age-related macular degeneration
H01434  Atypical hemolytic uremic syndrome
H02579  C3 glomerulopathy
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 190:344-357 (2022)
DOI:10.1002/ajmg.c.31986
Reference
PMID:8613545
  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
  Authors
Park DH, Connor KM, Lambris JD
  Title
The Challenges and Promise of Complement Therapeutics for Ocular Diseases.
  Journal
Front Immunol 10:1007 (2019)
DOI:10.3389/fimmu.2019.01007
Reference
  Authors
Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M
  Title
Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era.
  Journal
Nephron 144:537-549 (2020)
DOI:10.1159/000508920
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