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	Cât de frecvent apare
Generalized aminoaciduria	Întotdeauna
Glucose in urine	Întotdeauna
Impairment of galactose metabolism	Întotdeauna
Low blood sugar when fasting	Întotdeauna
Abnormal hepatic glycogen storage	Foarte des (80–99%)
Accumulation of acid in body due to kidney problem	Foarte des (80–99%)
Galactose intolerance	Foarte des (80–99%)
High urine phosphate levels	Foarte des (80–99%)
Impaired glucose tolerance	Foarte des (80–99%)
Increased hepatic glycogen content	Foarte des (80–99%)
Low blood phosphate level	Foarte des (80–99%)
Beta 2-microglobulinuria	Des (30–79%)
Elevated alkaline phosphatase	Des (30–79%)
Elevated circulating alanine aminotransferase concentration	Des (30–79%)
Elevated circulating aspartate aminotransferase concentration	Des (30–79%)
Elevated gamma-glutamyltransferase level	Des (30–79%)
Elevated urine calcium levels	Des (30–79%)
High blood bilirubin levels	Des (30–79%)
High urine protein levels	Des (30–79%)
Hypergalactosemia	Des (30–79%)
Increased serum bile acid concentration	Des (30–79%)
Ketonuria	Des (30–79%)
Metabolic acidosis	Des (30–79%)
Postprandial hyperglycemia	Des (30–79%)
Diabetes mellitus	Uneori (5–29%)
Increased plasma triglycerides	Uneori (5–29%)
Acidosis	Neînregistrat
Body fails to respond to insulin	Neînregistrat
Chronic acidosis	Neînregistrat
Low blood potassium levels	Neînregistrat
Low blood uric acid levels	Neînregistrat
Noninsulin-dependent diabetes	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Abdominal bloating	Des (30–79%)
Enlarged liver	Des (30–79%)
Impaired release of bile from liver	Des (30–79%)
Liver failure	Uneori (5–29%)
Hepatocellular carcinoma	Rar (1–4%)
Malabsorption	Neînregistrat
Poor appetite	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Weak and soft bones	Des (30–79%)
Bone fracture	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Softening of the bones	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Growth delay	Des (30–79%)
Growth delay as children	Des (30–79%)
Increased waist to hip ratio	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Increased calcium level in kidney	Uneori (5–29%)
Kidney damage	Uneori (5–29%)
Abnormal function of filtrating structures in kidney	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Doll-like facial appearance	Rar (1–4%)

Abnormality of limbs

Trait	Cât de frecvent apare
Bowing of the long bones	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Reduced fat tissue below the skin	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Global developmental delay	Neînregistrat

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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