Traits

Traits linked to CFHR1

complement factor H related 1

The Human Phenotype Ontology links 30 traits to CFHR1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Macular hemorrhage	Sometimes (5–29%)
Blood spots	Not recorded
Increased immature red blood cells	Not recorded
Low platelet count	Not recorded
Microangiopathic hemolytic anemia	Not recorded
Schistocytosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Macular drusen	Always
Macular degeneration	Very often (80–99%)
Macular geographic atrophy	Often (30–79%)
Choroidal neovascularization	Rarely (1–4%)
Foveal hypopigmentation	Not recorded
Progressive loss of vision	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Not recorded
Coma	Not recorded
Difficulty finding words	Not recorded
Epilepsy	Not recorded
Weakness of one side of body	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Decreased circulating complement C3 concentration	Not recorded
Decreased circulating complement factor B concentration	Not recorded
Decreased circulating complement factor H concentration	Not recorded
Decreased circulating complement factor I concentration	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated creatinine	Not recorded
Elevated lipids in blood	Not recorded
Fever	Not recorded
Increased blood urea nitrogen	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent urine output	Not recorded
Acute kidney injury	Not recorded
Hemolytic-uremic syndrome	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CFHR1 and how often each is seen. Find out more at hpo.jax.org.

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