Traits

Traits linked to SLC2A2

solute carrier family 2 member 2

The Human Phenotype Ontology links 54 traits to SLC2A2, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Generalized aminoaciduria	Always
Glucose in urine	Always
Impairment of galactose metabolism	Always
Low blood sugar when fasting	Always
Abnormal hepatic glycogen storage	Very often (80–99%)
Accumulation of acid in body due to kidney problem	Very often (80–99%)
Galactose intolerance	Very often (80–99%)
High urine phosphate levels	Very often (80–99%)
Impaired glucose tolerance	Very often (80–99%)
Increased hepatic glycogen content	Very often (80–99%)
Low blood phosphate level	Very often (80–99%)
Beta 2-microglobulinuria	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Elevated urine calcium levels	Often (30–79%)
High blood bilirubin levels	Often (30–79%)
High urine protein levels	Often (30–79%)
Hypergalactosemia	Often (30–79%)
Increased serum bile acid concentration	Often (30–79%)
Ketonuria	Often (30–79%)
Metabolic acidosis	Often (30–79%)
Postprandial hyperglycemia	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)
Increased plasma triglycerides	Sometimes (5–29%)
Acidosis	Not recorded
Body fails to respond to insulin	Not recorded
Chronic acidosis	Not recorded
Low blood potassium levels	Not recorded
Low blood uric acid levels	Not recorded
Noninsulin-dependent diabetes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Often (30–79%)
Enlarged liver	Often (30–79%)
Impaired release of bile from liver	Often (30–79%)
Liver failure	Sometimes (5–29%)
Hepatocellular carcinoma	Rarely (1–4%)
Malabsorption	Not recorded
Poor appetite	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Weak and soft bones	Often (30–79%)
Bone fracture	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Softening of the bones	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Increased waist to hip ratio	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Abnormal function of filtrating structures in kidney	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Doll-like facial appearance	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Bowing of the long bones	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Reduced fat tissue below the skin	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Not recorded

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 SLC2A2 and how often each is seen. Find out more at hpo.jax.org.

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