Traits

Traits linked to TPK1

thiamin pyrophosphokinase 1

The Human Phenotype Ontology links 29 traits to TPK1, 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
Abnormal gait	Often (30–79%)
Dystonia	Often (30–79%)
Episodic ataxia	Often (30–79%)
Global developmental delay	Often (30–79%)
Clonic seizure	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Encephalopathy	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Intention tremor	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Loss of speech	Sometimes (5–29%)
Ataxia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased urine alpha-ketoglutarate concentration	Very often (80–99%)
Higher than normal levels of lactate in blood	Often (30–79%)
Increased CSF lactate	Often (30–79%)
Increased lactate in body	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Eye muscle paralysis	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular hypertrophy	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Not recorded

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	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 TPK1 and how often each is seen. Find out more at hpo.jax.org.

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