Search for a gene
CFH - complement factor H
- Synonym(s) : age-related maculopathy susceptibility 1, ARMD4, ARMS1, beta-1H, FHL1, H factor 2 (complement), HUS
- Previous symbols and names : H factor 1 (complement), HF, HF1, HF2
- Type : gene with protein product
- Chromosomal location : 1q31.3
- OMIM: 134370
- HGNC: 4883
- UniProtKB: P08603
- Genatlas: CFH
- GenCC: CFH
- Ensembl: ENSG00000000971
- IUPHAR-DB: -
- Reactome: P08603
- LOVD: CFH
Diseases list
- Disease-causing germline mutation(s) in Atypical hemolytic uremic syndrome with complement gene abnormality
ORPHA:544472 - Disease-causing germline mutation(s) in Dense deposit disease
ORPHA:93571 - Disease-causing germline mutation(s) in Familial drusen
ORPHA:75376 - Disease-causing germline mutation(s) in Immunodeficiency with factor H anomaly
ORPHA:200421 - Disease-causing germline mutation(s) in Immunoglobulin-mediated membranoproliferative glomerulonephritis
ORPHA:329903 - Major susceptibility factor in NON RARE IN EUROPE: Age-related macular degeneration
ORPHA:279 - Biomarker tested in De novo thrombotic microangiopathy after kidney transplantation
ORPHA:244275 - Candidate gene tested in HELLP syndrome
ORPHA:244242

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.