Last updated on May 20, 2013

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 CFH
 
mRNA IDs Primary Information
NM_000186.2, NM_001014975.1
Gene Symbol  CFH
Protein Name   Complement factor h
Alternate Names
 ARMD4 
 ARMS1 
 CFHL3 
 FH 
 FHL1 
 HF 
 HF1 
 HF2 
 HUS 
 MGC88246 
Gene Locus  1q32

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB Ensembl HGNC Swiss-Prot RefDIC
101  00601 134370 3075 NetPath_M3075 3075 1FHC 1HAQ 1HCC 1HFH 1HFI 1KOV 2BZM 2G7I 2IC4 2JGW 2JGX ENSG00000000971 4883 P08603 CFH
Disease name Characteristic / Associated features Category Inheritance type
Factor H deficiency

Progressive renal insufficiency; Membranoproliferative glomerulonephritis type II; Thickening of the glomerular basement membrane on renal biopsy; Deposition of complement component C3 in glomerular basement membrane; Hematuria; Continuous activation of the alternative complement pathway; Hypocomplementemia; Depletion of components of the alternative complement pathway; Increased susceptibility to certain bacterial infections, especially neisseria meningitidis; Decreased serum complement factor H; Normal levels of complement factor H, but impaired function; Hypocomplementemia; IgA nephropathy

Complement Deficiencies

Autosomal dominant; Autosomal recessive
Factor H deficiency associated with atypical hemolytic uremic syndrome

microangiopathic hemolytic anemia; thrombocytopenia; acute renal failure

Complement Deficiencies

Autosomal recessive
   

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