Traits

Traits linked to HPSE2

heparanase 2 (inactive)

The Human Phenotype Ontology links 16 traits to HPSE2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Very often (80–99%)
Hydronephrosis	Often (30–79%)
Loss of bladder control	Often (30–79%)
Undescended testes	Often (30–79%)
Urethral obstruction	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Renal failure	Sometimes (5–29%)
Enuresis	Not recorded
Hydroureter	Not recorded
Urethral valve	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial expression	Not recorded
Abnormal facial shape	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Loss of bowel control	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)

Abnormality of the nervous system

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

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 HPSE2 and how often each is seen. Find out more at hpo.jax.org.

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