Traits

Traits linked to ARHGEF1

Rho guanine nucleotide exchange factor 1

The Human Phenotype Ontology links 13 traits to ARHGEF1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Complete or near-complete absence of specific antibody response to tetanus vaccine	Always
Decreased circulating isohemagglutinin concentration	Always
Recurrent chest infections	Always
Severe recurrent varicella	Always
Susceptibility to herpesvirus	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased memory B cell proportion	Always
Increased transitional B cell proportion	Always
Low B cell count	Always
Autoimmune thrombocytopenia	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Always
Decreased circulating IgM concentration	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent colds	Always

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Always

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 ARHGEF1 and how often each is seen. Find out more at hpo.jax.org.

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