Traits

Traits linked to ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

The Human Phenotype Ontology links 59 traits to ABL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Decreased volume of lip	Often (30–79%)
Dental crowding	Often (30–79%)
Frontal bossing	Often (30–79%)
High palate	Often (30–79%)
Short chin	Often (30–79%)
Dental cavities	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Medial flaring of the eyebrow	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Broad forehead	Not recorded
Decreased breadth of upper jaw bones	Not recorded
Long nose	Not recorded
Narrow nose	Not recorded
Pointed chin	Not recorded
Short nose	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Myeloproliferative disorder	Always
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 number of platelets in blood	Often (30–79%)
Low platelet count	Often (30–79%)
Chronic myelogenous leukemia	Not recorded
Ph-positive acute lymphoblastic leukemia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Often (30–79%)
Cutis marmorata	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Increased spleen size	Often (30–79%)
Narrowing of aorta	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital diaphragmatic hernia	Often (30–79%)
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Scoliosis	Often (30–79%)
Hunched back	Sometimes (5–29%)
Permanent flexion of the finger or toe	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Often (30–79%)
Poor appetite	Often (30–79%)
Absent anus	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Undescended testes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Soft skin	Often (30–79%)
Thin skin	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Reduced leukocyte alkaline phosphatase	Not recorded

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)

Abnormality of the respiratory system

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

Constitutional symptom

Trait	How often it is seen
Fatigue	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 ABL1 and how often each is seen. Find out more at hpo.jax.org.

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