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CFH

complement factor H

HCNC Approved Symbol
CFH (HGNC:4883)
Genomic Coordinates
1:196,652,043 - 196,747,504 (1q31.3)
Synonyms
HUS, FHL1, ARMS1, ARMD4, HF, HF1, HF2
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}
235400AD; AR
{Macular degeneration, age-related, 4}
610698AD
Basal laminar drusen
126700AD
Complement factor H deficiency
609814AD; AR

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the CFH gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hemolytic-uremic syndrome
 3 (75.0%)
Microscopic hematuria
 1 (25.0%)