Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement factor H-related 5

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. CFHR5 deficiency results in a 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:

IgA nephropathy
CFHR1
CFHR3
CFHR5
IgA nephropathy type 1
IgA nephropathy type 2
IgA nephropathy type 3
SPRY2
Membranoproliferative glomerulonephritis (MPGN)
ADAMTS13
C1QA
C1QB
C1QC
C3
CD46
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
CR1 deficiency
CR1
Complement component C1q deficiency
C1QA
C1QB
C1QC
Complement component C1s deficiency
C1S
DGKE
PIGA
THBD
CFHR5 Nephropathy
CFHR5

References:

1.

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

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2.

Abrera-Abeleda MA et al. (2006) Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).

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3.

McRae JL et al. (2001) Human factor H-related protein 5 (FHR-5). A new complement-associated protein.

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Update: Sept. 26, 2018