Familial Mediterranean fever
ORPHA:342DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)6
HP:0002019Constipation
HP:0002027Abdominal pain
HP:0002829Arthralgia
HP:0003326Myalgia
HP:0001945Fever
HP:0002017Nausea and vomiting
Частый (30–79%)18
HP:0000093Proteinuria
HP:0000737Irritability
HP:0001055Erysipelas
HP:0001250Seizure
HP:0001369Arthritis
HP:0001974Leukocytosis
HP:0002014Diarrhea
HP:0002102Pleuritis
HP:0002360Sleep abnormality
HP:0002745Oral leukoplakia
HP:0004396Poor appetite
HP:0005764Polyarticular arthritis
HP:0010783Erythema
HP:0011899Hyperfibrinogenemia
HP:0012378Fatigue
HP:0025406Asthenia
HP:0033748Hypoesthesia
HP:0100749Chest pain
Периодический (5–29%)25
HP:0000100Nephrotic syndrome
HP:0000112Nephropathy
HP:0000121Nephrocalcinosis
HP:0000716Depression
HP:0000739Anxiety
HP:0000988Skin rash
HP:0001287Meningitis
HP:0001541Ascites
HP:0001658Myocardial infarction
HP:0001733Pancreatitis
HP:0001744Splenomegaly
HP:0002024Malabsorption
HP:0002586Peritonitis
HP:0002633Vasculitis
HP:0002716Lymphadenopathy
HP:0002758Osteoarthritis
HP:0003419Low back pain
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005214Intestinal obstruction
HP:0005244Gastrointestinal infarctions
HP:0006554Acute hepatic failure
HP:0010741Pedal edema
HP:0011034Amyloidosis
HP:0011675Arrhythmia
HP:0100796Orchitis
Очень редкий (1–4%)1
HP:0001701Pericarditis
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 175 | Turkey | Value and class |
| Point prevalence | >1 / 1000 | 200 | Armenia | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.23 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Annual incidence | 1-5 / 10 000 | 14 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)