Traits

Traits linked to AGXT

alanine--glyoxylate aminotransferase

The Human Phenotype Ontology links 43 traits to AGXT, 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
Increased calcium level in kidney	Always
Renal failure	Always
Kidney stone	Very often (80–99%)
Decreased glomerular filtration rate	Often (30–79%)
Dull burning sensation with urination	Often (30–79%)
Enuresis	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Calcium oxalate nephrolithiasis	Not recorded

Laboratory abnormality

Trait	How often it is seen
Dehydration	Always
Elevated urinary glycolic acid level	Always
Elevated urinary glyoxylic acid level	Always
High urine oxalate levels	Always
Abnormal circulating enzyme concentration	Very often (80–99%)
Metabolic acidosis	Very often (80–99%)
Blood in urine	Often (30–79%)
Laboratory abnormality	Rarely (1–4%)
Reduced hepatic alanine-glyoxylate aminotransferase activity	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing and hardening of arteries	Rarely (1–4%)
Stroke	Rarely (1–4%)
Arterial occlusion	Not recorded
Cutis marmorata	Not recorded
Intermittent claudication	Not recorded
Interruption of electrical communication between upper and lower chambers of heart	Not recorded
Peripheral arterial stenosis	Not recorded
Raynaud phenomenon	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Calcium buildup in soft tissues of body	Very often (80–99%)
Abnormality of the skeletal system	Sometimes (5–29%)
Bone pain	Not recorded
Calcinosis cutis	Not recorded
Increased bone mineral density	Not recorded
Spontaneous fracture	Not recorded

Abnormality of the eye

Trait	How often it is seen
Choroidal neovascularization	Not recorded
Damaged optic nerve	Not recorded
Noninflammatory retina disease	Not recorded
Optic atrophy	Not recorded
Retinal crystals	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Persistent blue color of hands or feet	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Peripheral neuropathy	Not recorded

Constitutional symptom

Trait	How often it is seen
Death of body tissue due to lack of blood flow or infection	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	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 AGXT and how often each is seen. Find out more at hpo.jax.org.

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