GATA2 deficiency spectrum
ORPHA:228423DiseaseAutosomal dominant, Not applicableAdult
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)10
HP:0000407Sensorineural hearing impairment
HP:0001004Lymphedema
HP:0001873Thrombocytopenia
HP:0002167Abnormality of speech or vocalization
HP:0002488Acute leukemia
HP:0002878Respiratory failure
HP:0003010Prolonged bleeding time
HP:0005528Bone marrow hypocellularity
HP:0011991Abnormal neutrophil count
HP:0012378Fatigue
Частый (30–79%)15
HP:0000389Chronic otitis media
HP:0000572Visual loss
HP:0000587Abnormal optic nerve morphology
HP:0000978Bruising susceptibility
HP:0000980Pallor
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0001945Fever
HP:0002017Nausea and vomiting
HP:0002076Migraine
HP:0002170Intracranial hemorrhage
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002321Vertigo
HP:0100724Hypercoagulability
Периодический (5–29%)3
HP:0001974Leukocytosis
HP:0002716Lymphadenopathy
HP:0005547Myeloproliferative disorder
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)