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Traits

Traits linked to STAT2

signal transducer and activator of transcription 2

The Human Phenotype Ontology links 29 traits to STAT2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Bleeding in brainAlati
Decreased blood lymphocyte numberAlati
Elevated circulating D-dimer concentrationAlati
Elevated white blood countAlati
Low number of red blood cells or hemoglobinAlati
Congenital thrombocytopeniaSageli (30–79%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Elevated CSF neopterin levelAlati
High urine protein levelsAlati
Elevated circulating alanine aminotransferase concentrationSageli (30–79%)
Episodic feverSageli (30–79%)
Higher than normal levels of lactate in bloodSageli (30–79%)
Elevated serum ferritinPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Abnormal cerebral white matter morphologyAlati
Global developmental delayAlati
EpilepsySageli (30–79%)
Small cerebellumSageli (30–79%)
EncephalopathyMõnikord (5–29%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Enlarged heartAlati
Inflammation of the lymph nodesAlati
High blood pressurePole registreeritud

Abnormal cellular phenotype

TraitKui sageli seda täheldatakse
Decreased circulating IgA concentrationAlati
Decreased circulating IgM concentrationSageli (30–79%)

Abnormality of the immune system

TraitKui sageli seda täheldatakse
Severe viral infectionSageli (30–79%)
Post-vaccination measlesMõnikord (5–29%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
ApneaAlati
Respiratory function lossAlati

Abnormality of prenatal development or birth

TraitKui sageli seda täheldatakse
Premature birthAlati

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Acute kidney injurySageli (30–79%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Abnormal deposits of calcium in the brainAlati

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 STAT2 and how often each is seen. Find out more at hpo.jax.org.

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