Tumor necrosis factor receptor 1 associated periodic syndrome
ORPHA:32960DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)10
HP:0000988Skin rash
HP:0001055Erysipelas
HP:0001701Pericarditis
HP:0001954Recurrent fever
HP:0002014Diarrhea
HP:0002027Abdominal pain
HP:0003326Myalgia
HP:0003565Elevated erythrocyte sedimentation rate
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012733Macule
Частый (30–79%)10
HP:0001369Arthritis
HP:0001744Splenomegaly
HP:0001974Leukocytosis
HP:0002013Vomiting
HP:0002019Constipation
HP:0002102Pleuritis
HP:0002716Lymphadenopathy
HP:0005214Intestinal obstruction
HP:0010783Erythema
HP:0100796Orchitis
Периодический (5–29%)20
HP:0000509Conjunctivitis
HP:0000554Uveitis
HP:0000708Atypical behavior
HP:0000978Bruising susceptibility
HP:0001034Hypermelanotic macule
HP:0001637Abnormal myocardium morphology
HP:0002076Migraine
HP:0002321Vertigo
HP:0002586Peritonitis
HP:0002633Vasculitis
HP:0002829Arthralgia
HP:0003401Paresthesia
HP:0006824Cranial nerve paralysis
HP:0100537Fasciitis
HP:0100539Periorbital edema
HP:0100614Myositis
HP:0100658Cellulitis
HP:0100749Chest pain
HP:0100776Recurrent pharyngitis
HP:0100781Abnormality of the sacroiliac joint
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)