Traits

Traits linked to TKT

transketolase

The Human Phenotype Ontology links 30 traits to TKT, 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
Delayed speech and language development	Always
Global developmental delay	Always
Absent speech development	Often (30–79%)
Attention deficit	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Repetitive movements	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Very often (80–99%)
Hole in heart wall separating two lower heart chambers	Very often (80–99%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Abnormal coronary artery course	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Clouding of the lens of the eye at birth	Often (30–79%)
Uveitis	Often (30–79%)
Cross-eyed	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating ribitol concentration	Very often (80–99%)
Increased level of ribose in urine	Often (30–79%)
Type 1 diabetes	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Pink eye	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Seborrheic dermatitis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Proportionate short stature	Always

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

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