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Traits
Traits linked to STAT6
signal transducer and activator of transcription 6
The Human Phenotype Ontology links 44 traits to STAT6, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Gastrointestinal eosinophilia | Sageli (30–79%) |
| Acid reflux | Mõnikord (5–29%) |
| Abnormal peritoneum morphology | Harva (1–4%) |
| Constipation | Harva (1–4%) |
| Liver cancer | Harva (1–4%) |
| Pelvic mass | Harva (1–4%) |
| Eosinophilic infiltration of the esophagus | Pole registreeritud |
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Baby eczema | Väga sageli (80–99%) |
| Food allergy | Väga sageli (80–99%) |
| Anaphylaxis | Sageli (30–79%) |
| Asthma | Sageli (30–79%) |
| Recurrent respiratory infections | Sageli (30–79%) |
| Recurrent skin infections | Sageli (30–79%) |
| Recurrent viral infections | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Genital tumor | Mõnikord (5–29%) |
| Abnormality of the prostate | Harva (1–4%) |
| Prostate cancer | Harva (1–4%) |
| Urinary retention | Harva (1–4%) |
| Uterine cancer | Harva (1–4%) |
| Vaginal tumor | Harva (1–4%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating C-peptide concentration | Harva (1–4%) |
| Fever | Harva (1–4%) |
| Low blood sugar | Harva (1–4%) |
| Recurrent low blood sugar levels | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Osteoporosis | Mõnikord (5–29%) |
| Hypophosphatemic rickets | Harva (1–4%) |
| Lumbago | Harva (1–4%) |
Abnormal tissue mass
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal tissue mass | Mõnikord (5–29%) |
| Soft tissue neoplasm | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| High blood eosinophil count | Väga sageli (80–99%) |
| B-cell lymphoma | Mõnikord (5–29%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Loss of consciousness | Harva (1–4%) |
| Nervous system cancer | Harva (1–4%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Neoplasia of the pleura | Mõnikord (5–29%) |
| Lung cancer | Harva (1–4%) |
Constitutional symptom
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Mõnikord (5–29%) |
| Night sweats | Harva (1–4%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Sageli (30–79%) |
| Weight loss | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Increased circulating IgE concentration | Pole registreeritud |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the forehead | Harva (1–4%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Hypoinsulinemia | Harva (1–4%) |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Double vision | Harva (1–4%) |
Abnormality of the thoracic cavity
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal mediastinum morphology | Harva (1–4%) |
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 STAT6 and how often each is seen. Find out more at hpo.jax.org.
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