Traits

Traits linked to RUNX1

RUNX family transcription factor 1

The Human Phenotype Ontology links 64 traits to RUNX1, 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
Abnormal dense granule content	Always
Acute monocytic leukemia	Always
Blood spots	Always
Ecchymosis	Always
Impaired ADP-induced platelet aggregation	Always
Impaired arachidonic acid-induced platelet aggregation	Always
Impaired collagen-induced platelet aggregation	Always
Impaired platelet aggregation	Always
Low platelet count	Always
Myeloproliferative disorder	Always
Petechiae	Always
Prolonged bleeding time	Always
Abnormal mast cell morphology	Very often (80–99%)
Abnormal basophil morphology	Often (30–79%)
Abnormal granulocyte morphology	Often (30–79%)
Abnormality of blood and blood-forming tissues	Often (30–79%)
Elevated white blood count	Often (30–79%)
Increased CD25+ mast cell proportion	Often (30–79%)
Increased number of platelets in blood	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Blood cancer	Sometimes (5–29%)
Blood tumor	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Abnormal alpha granule content	Not recorded
Bloody nose	Not recorded
Bruising susceptibility	Not recorded
Cancer of lymphatic system	Not recorded
Myelodysplasia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal cramps	Often (30–79%)
Abdominal pain	Often (30–79%)
Anorexia	Often (30–79%)
Diarrhea	Often (30–79%)
Malabsorption	Often (30–79%)
Poor appetite	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Decreased liver function	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)
Increased spleen size	Often (30–79%)
Low blood pressure	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Hives	Sometimes (5–29%)
Hypersplenism	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Itching	Often (30–79%)
Abnormal blistering of the skin	Sometimes (5–29%)
Abnormal skin structure	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone pain	Often (30–79%)
Osteoporosis	Often (30–79%)
Breakdown of bone	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Constitutional symptom	Often (30–79%)
Fatigue	Often (30–79%)
Joint pain	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Often (30–79%)
Elevated total serum tryptase	Often (30–79%)
Fever	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Anaphylaxis	Often (30–79%)
Maculopapular exanthema	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cancer of early nerve cells	Not recorded

Growth abnormality

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

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 RUNX1 and how often each is seen. Find out more at hpo.jax.org.

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