Traits

Traits linked to MPC1

mitochondrial pyruvate carrier 1

The Human Phenotype Ontology links 18 traits to MPC1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Not recorded
Increased circulating pyruvate concentration	Not recorded
Increased lactate in body	Not recorded
Low blood sugar	Not recorded
Organic aciduria	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Progressively abnormally small cranium	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Encephalopathy	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded

Abnormality of the eye

Trait	How often it is seen
Rotary nystagmus	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	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 MPC1 and how often each is seen. Find out more at hpo.jax.org.

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