Wiskott-Aldrich syndrome
ORPHA:906DiseaseAutosomal dominant, Autosomal recessive, Not applicable, X-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)15
HP:0000246Sinusitis
HP:0000388Otitis media
HP:0000389Chronic otitis media
HP:0000978Bruising susceptibility
HP:0001873Thrombocytopenia
HP:0001888Lymphopenia
HP:0001945Fever
HP:0002028Chronic diarrhea
HP:0002205Recurrent respiratory infections
HP:0002721Immunodeficiency
HP:0003010Prolonged bleeding time
HP:0006510Chronic pulmonary obstruction
HP:0007420Spontaneous hematomas
HP:0011029Internal hemorrhage
HP:0011875Abnormal platelet morphology
Частый (30–79%)14
HP:0000967Petechiae
HP:0000979Purpura
HP:0001328Specific learning disability
HP:0001878Hemolytic anemia
HP:0001879Abnormality of eosinophils
HP:0001903Anemia
HP:0001935Microcytic anemia
HP:0002037Inflammation of the large intestine
HP:0002094Dyspnea
HP:0002248Hematemesis
HP:0002573Hematochezia
HP:0002960Autoimmunity
HP:0011675Arrhythmia
HP:0012378Fatigue
Периодический (5–29%)28
HP:0000112Nephropathy
HP:0000140Abnormality of the menstrual cycle
HP:0000225Gingival bleeding
HP:0000421Epistaxis
HP:0000491Keratitis
HP:0000498Blepharitis
HP:0000509Conjunctivitis
HP:0000778Hypoplasia of the thymus
HP:0000964Eczematoid dermatitis
HP:0001025Urticaria
HP:0001287Meningitis
HP:0001369Arthritis
HP:0001645Sudden cardiac death
HP:0001875Decreased total neutrophil count
HP:0002170Intracranial hemorrhage
HP:0002488Acute leukemia
HP:0002633Vasculitis
HP:0002664Neoplasm
HP:0002665Lymphoma
HP:0005558Chronic leukemia
HP:0006535Recurrent intrapulmonary hemorrhage
HP:0009830Peripheral neuropathy
HP:0011869Abnormal platelet function
HP:0100749Chest pain
HP:0100774Hyperostosis
HP:0100806Sepsis
HP:0100820Glomerulopathy
HP:0200042Skin ulcer
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.18 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Switzerland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.55 | Norway | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.07 | Australia | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.03 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | United States | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.0278 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)