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

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Abdominal bloating	Sageli (30–79%)
Enlarged liver	Sageli (30–79%)
Impaired release of bile from liver	Sageli (30–79%)
Liver failure	Mõnikord (5–29%)
Hepatocellular carcinoma	Harva (1–4%)
Malabsorption	Pole registreeritud
Poor appetite	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Weak and soft bones	Sageli (30–79%)
Bone fracture	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Softening of the bones	Pole registreeritud

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Growth delay	Sageli (30–79%)
Growth delay as children	Sageli (30–79%)
Increased waist to hip ratio	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Increased calcium level in kidney	Mõnikord (5–29%)
Kidney damage	Mõnikord (5–29%)
Abnormal function of filtrating structures in kidney	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Doll-like facial appearance	Harva (1–4%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Bowing of the long bones	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Reduced fat tissue below the skin	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Global developmental delay	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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