Traits

Traits linked to KYNU

kynureninase

The Human Phenotype Ontology links 40 traits to KYNU, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Encephalopathy	Always
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Headache	Often (30–79%)
Intellectual disability	Often (30–79%)
Repetitive movements	Often (30–79%)
Coma	Sometimes (5–29%)
Progressive brain disease	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating tryptophan concentration	Always
Elevated circulating 3-hydroxykynurenine concentration	Always
Elevated urinary 3-hydroxykynurenine level	Always
Elevated urinary xanthurenic acid level	Always
Accumulation of acid in body due to kidney problem	Often (30–79%)
Metabolic acidosis	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Missing part of vertebrae	Always
Vertebral segmentation defect	Always
11 pairs of ribs	Often (30–79%)
Narrow chest	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Frontal bossing	Often (30–79%)
Inflammation of the mouth	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Often (30–79%)
Low blood pressure	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Underdeveloped left heart	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Jaundice	Always
Vomiting	Always
Anteriorly placed anus	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Small kidneys	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Disproportionately short upper portion of limb	Often (30–79%)
Talipes	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing dysregulation	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	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 KYNU and how often each is seen. Find out more at hpo.jax.org.

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