Traits

Traits linked to RACGAP1

Rac GTPase activating protein 1

The Human Phenotype Ontology links 22 traits to RACGAP1, 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
Macrocytic anemia	Always
Macrocytic dyserythropoietic anemia	Always
Low number of red blood cells or hemoglobin	Very often (80–99%)
Poikilocytosis	Very often (80–99%)
Unequal size of red blood cells	Very often (80–99%)
Abnormal erythroid lineage cell morphology	Often (30–79%)
Abnormal proerythroblast morphology	Often (30–79%)
Increased mean corpuscular volume	Often (30–79%)
Abnormal erythrocyte morphology	Sometimes (5–29%)
Black feces	Sometimes (5–29%)
Bleeding gums	Sometimes (5–29%)
Bleeding post-delivery	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating iron concentration	Often (30–79%)
High blood bilirubin levels	Often (30–79%)
Increased total iron binding capacity	Often (30–79%)
High liver enzymes	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal cellular phenotype	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Headache	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Rarely (1–4%)

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 RACGAP1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test