Traits

Traits linked to SLC5A2

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The Human Phenotype Ontology links 17 traits to SLC5A2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Always
Kidney damage	Always
Enuresis nocturna	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Enuresis	Not recorded
Increased urine output	Not recorded

Laboratory abnormality

Trait	How often it is seen
Glucose in urine	Always
Dehydration	Sometimes (5–29%)
High levels of ketone bodies	Sometimes (5–29%)
Abnormal oral glucose tolerance	Not recorded
Body fails to respond to insulin	Not recorded
High blood sugar	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Extreme thirst	Not recorded
Increased appetite	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating insulin concentration	Not recorded

Growth abnormality

Trait	How often it is seen
Moderate growth delay in children	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 SLC5A2 and how often each is seen. Find out more at hpo.jax.org.

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