Traits

Traits linked to APRT

adenine phosphoribosyltransferase

The Human Phenotype Ontology links 25 traits to APRT, 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
Kidney stone	Always
Oliguria	Always
Renal failure	Always
Urolithiasis	Always
Acute kidney injury	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Dull burning sensation with urination	Often (30–79%)
Difficulty with flow	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Uric acid stones	Sometimes (5–29%)
Urinary retention	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
2,8-dihydroxyadenine crystalluria	Always
Blood in urine	Always
Elevated creatinine	Always
Metabolic acidosis	Always
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
High urine protein levels	Often (30–79%)
Bloody urine	Sometimes (5–29%)
Elevated urinary 2,8-dihydroxyadenine level	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Always
Abdominal colic	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Flank pain	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 APRT and how often each is seen. Find out more at hpo.jax.org.

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