Traits

Traits linked to SOX17

SRY-box transcription factor 17

The Human Phenotype Ontology links 53 traits to SOX17, by body system: features seen in people with one of the gene's rare conditions.

SOX17

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Always
Heart stops beating	Always
Increased blood pressure in blood vessels of lungs	Always
Increased pulmonary vascular resistance	Always
Left ventricular systolic dysfunction	Always
Patent ductus arteriosus	Always
Quivering upper heart chambers resulting in irregular heartbeat	Always
Right ventricular dilatation	Always
Right ventricular hypertrophy	Always
Pulmonary arterial hypertension with lack of acute response to NO challenge	Very often (80–99%)
Right axis deviation	Very often (80–99%)
Bronchial artery dilatation	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Stroke	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Complete right bundle branch block	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Incomplete right bundle branch block	Sometimes (5–29%)
Interrupted inferior vena cava with azygous continuation	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Pulmonary arterial hypertension with positive acute response to NO challenge	Sometimes (5–29%)
Reduced systolic function	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Often (30–79%)
Ureter duplex	Often (30–79%)
Frequent urinary tract infections	Sometimes (5–29%)
Grade III vesicoureteral reflux	Sometimes (5–29%)
Grade IV vesicoureteral reflux	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Ureteropelvic junction obstruction	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Chronic pulmonary obstruction	Always
Low blood oxygen level	Always
Decreased DLCO	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Coughing up blood	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood cancer	Always
Hypercoagulability	Always
Bloody nose	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Always
Fatigue	Often (30–79%)
Chest tightness	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)
Persistent patent ductus venosus	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Always
Unusual bronchiolitis	Always

Abnormality of the nervous system

Trait	How often it is seen
Autism	Always
Obstructive sleep apnea	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Left Isomerism	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Juvenile idiopathic arthritis	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 SOX17 and how often each is seen. Find out more at hpo.jax.org.

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