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Traits

Traits linked to SLC52A1

solute carrier family 52 member 1

The Human Phenotype Ontology links 10 traits to SLC52A1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHow often it is seen
Elevated circulating fatty acylcarnitine concentrationAlways
Elevated urinary dicarboxylic acid levelAlways
HypothermiaAlways
Increased lactate in bodyAlways
Metabolic acidosisAlways
Vitamin B2 deficiencyAlways
Low blood sugarNot recorded

Abnormality of the digestive system

TraitHow often it is seen
Poor suckNot recorded

Abnormality of the musculoskeletal system

TraitHow often it is seen
Low muscle toneAlways

Abnormality of the nervous system

TraitHow often it is seen
LethargyAlways

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 SLC52A1 and how often each is seen. Find out more at hpo.jax.org.

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