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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

TraitKui sageli seda täheldatakse
Increased calcium level in kidneyAlati
Renal failureAlati
Kidney stoneVäga sageli (80–99%)
Decreased glomerular filtration rateSageli (30–79%)
Dull burning sensation with urinationSageli (30–79%)
EnuresisMõnikord (5–29%)
Frequent urinary tract infectionsMõnikord (5–29%)
Stage 5 chronic kidney diseaseMõnikord (5–29%)
Calcium oxalate nephrolithiasisPole registreeritud

Laboratory abnormality

TraitKui sageli seda täheldatakse
DehydrationAlati
Elevated urinary glycolic acid levelAlati
Elevated urinary glyoxylic acid levelAlati
High urine oxalate levelsAlati
Abnormal circulating enzyme concentrationVäga sageli (80–99%)
Metabolic acidosisVäga sageli (80–99%)
Blood in urineSageli (30–79%)
Laboratory abnormalityHarva (1–4%)
Reduced hepatic alanine-glyoxylate aminotransferase activityPole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Narrowing and hardening of arteriesHarva (1–4%)
StrokeHarva (1–4%)
Arterial occlusionPole registreeritud
Cutis marmorataPole registreeritud
Intermittent claudicationPole registreeritud
Interruption of electrical communication between upper and lower chambers of heartPole registreeritud
Peripheral arterial stenosisPole registreeritud
Raynaud phenomenonPole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Calcium buildup in soft tissues of bodyVäga sageli (80–99%)
Abnormality of the skeletal systemMõnikord (5–29%)
Bone painPole registreeritud
Calcinosis cutisPole registreeritud
Increased bone mineral densityPole registreeritud
Spontaneous fracturePole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Choroidal neovascularizationPole registreeritud
Damaged optic nervePole registreeritud
Noninflammatory retina diseasePole registreeritud
Optic atrophyPole registreeritud
Retinal crystalsPole registreeritud

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Low number of red blood cells or hemoglobinVäga sageli (80–99%)

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Abnormal dentitionHarva (1–4%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Persistent blue color of hands or feetPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Peripheral neuropathyPole registreeritud

Constitutional symptom

TraitKui sageli seda täheldatakse
Death of body tissue due to lack of blood flow or infectionPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightSageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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