PFAPA syndrome
ORPHA:42642DiseaseUnknownChildhood, Infancy
Фенотипы (HPO)27
Очень частый (80–99%)10
HP:0000163Abnormal oral cavity morphology
HP:0000708Atypical behavior
HP:0001824Weight loss
HP:0002076Migraine
HP:0002383Infectious encephalitis
HP:0002716Lymphadenopathy
HP:0002840Lymphadenitis
HP:0004370Abnormality of temperature regulation
HP:0032323Periodic fever
HP:0100776Recurrent pharyngitis
Частый (30–79%)9
HP:0002829Arthralgia
HP:0000737Irritability
HP:0002307Drooling
HP:0002315Headache
HP:0003326Myalgia
HP:0011107Recurrent aphthous stomatitis
HP:0012378Fatigue
HP:0025289Cervical lymphadenopathy
HP:0025439Pharyngitis
Периодический (5–29%)8
HP:0001369Arthritis
HP:0001744Splenomegaly
HP:0002017Nausea and vomiting
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002240Hepatomegaly
HP:0011110Recurrent tonsillitis
HP:0012514Lower limb pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)