Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement factor H-related 3

This is one of 5 complement factor H-related genes that occur in tandem with CFH. All these genes though less transcribed share some structural domains and functional properties with complement factor H. Some mutations and polymorphisms have been associated with atypical HUS and age-related macula degeneration. The polymorphism of deletion of this gene and the neighboring CFHR1 gene is associated with lupus erythematodes and IgA nephropathy.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hemolytic-Uremic Syndrome
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
PIGA
PLG
THBD
Age-related macula degeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2
IgA nephropathy
CFHR1
CFHR3
CFHR5
IgA nephropathy type 1
IgA nephropathy type 2
IgA nephropathy type 3
SPRY2
Lupus erythematosus nephritis
C1QA
C1QB
C1QC
CFHR1
CFHR3

References:

1.

Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.

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2.

Hughes AE et al. (2006) A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.

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3.

Skerka C et al. (1993) A novel short consensus repeat-containing molecule is related to human complement factor H.

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Update: Sept. 26, 2018