Traits

Traits linked to SRSF2

serine and arginine rich splicing factor 2

The Human Phenotype Ontology links 67 traits to SRSF2, 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 mast cell morphology	Very often (80–99%)
Blood tumor	Very often (80–99%)
Myeloid leukemia	Very often (80–99%)
Bone marrow hypercellularity	Often (30–79%)
Elevated white blood count	Often (30–79%)
High blood eosinophil count	Often (30–79%)
Increased CD25+ mast cell proportion	Often (30–79%)
Low platelet count	Often (30–79%)
Myeloproliferative disorder	Often (30–79%)
Normochromic anemia	Often (30–79%)
Normocytic anemia	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Blood cancer	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Chronic myelomonocytic leukemia	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Granulocytic hyperplasia	Sometimes (5–29%)
Increased blood neutrophil counts	Sometimes (5–29%)
Increased total basophil count	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%)
Myelodysplasia	Sometimes (5–29%)
Chronic lymphatic leukemia	Rarely (1–4%)
Multiple myeloma	Rarely (1–4%)

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%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Decreased liver function	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Sore in the lining of gastrointestinal tract	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)
Low blood pressure	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Elevated heart rate	Sometimes (5–29%)
Fainting spell	Sometimes (5–29%)
Hives	Sometimes (5–29%)
Hypersplenism	Sometimes (5–29%)
Increased spleen size	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%)
Paleness	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%)
Increased susceptibility to fractures	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%)
Muscle ache	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated total serum tryptase	Very often (80–99%)
Elevated alkaline phosphatase	Often (30–79%)
Fever	Often (30–79%)
Amyloid deposition	Rarely (1–4%)

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
Headache	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)

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 SRSF2 and how often each is seen. Find out more at hpo.jax.org.

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