Muckle-Wells syndrome
ORPHA:575DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)11
HP:0000408Progressive sensorineural hearing impairment
HP:0000509Conjunctivitis
HP:0000554Uveitis
HP:0000988Skin rash
HP:0001369Arthritis
HP:0001744Splenomegaly
HP:0001769Broad foot
HP:0002240Hepatomegaly
HP:0002829Arthralgia
HP:0006824Cranial nerve paralysis
HP:0100534Episcleritis
Частый (30–79%)7
HP:0000100Nephrotic syndrome
HP:0000112Nephropathy
HP:0001025Urticaria
HP:0001917Renal amyloidosis
HP:0001939Abnormality of metabolism/homeostasis
HP:0002027Abdominal pain
HP:0003565Elevated erythrocyte sedimentation rate
Периодический (5–29%)19
HP:0000078Abnormality of the genital system
HP:0000174Abnormal palate morphology
HP:0000256Macrocephaly
HP:0000366Abnormality of the nose
HP:0000501Glaucoma
HP:0000648Optic atrophy
HP:0000823Delayed puberty
HP:0001608Abnormality of the voice
HP:0001761Pes cavus
HP:0001903Anemia
HP:0001945Fever
HP:0002091Restrictive ventilatory defect
HP:0002633Vasculitis
HP:0003326Myalgia
HP:0004299Hernia of the abdominal wall
HP:0004322Short stature
HP:0008064Ichthyosis
HP:0011107Recurrent aphthous stomatitis
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)