Sturge-Weber syndrome
ORPHA:3205Malformation syndromeNot applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)3
HP:0000996Facial capillary hemangioma
HP:0001250Seizure
HP:0005306Capillary hemangioma
Частый (30–79%)16
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001123Visual field defect
HP:0001249Intellectual disability
HP:0001297Stroke
HP:0001347Hyperreflexia
HP:0002315Headache
HP:0007018Attention deficit hyperactivity disorder
HP:0012019Lens luxation
HP:0012222Arachnoid hemangiomatosis
HP:0012469Infantile spasms
HP:0012758Neurodevelopmental delay
HP:0100659Abnormality of the cerebral vasculature
Периодический (5–29%)32
HP:0100774Hyperostosis
HP:0200026Ocular pain
HP:0000212Gingival overgrowth
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000364Hearing abnormality
HP:0000504Abnormality of vision
HP:0000524Conjunctival telangiectasia
HP:0000541Retinal detachment
HP:0000557Buphthalmos
HP:0000572Visual loss
HP:0000610Abnormal choroid morphology
HP:0000612Iris coloboma
HP:0000618Blindness
HP:0000689Dental malocclusion
HP:0000729Autistic behavior
HP:0001100Heterochromia iridis
HP:0001131Corneal dystrophy
HP:0002015Dysphagia
HP:0002120Cerebral cortical atrophy
HP:0002204Pulmonary embolism
HP:0002308Chiari malformation
HP:0002360Sleep abnormality
HP:0002514Cerebral calcification
HP:0004936Venous thrombosis
HP:0007872Choroidal hemangioma
HP:0008046Abnormal retinal vascular morphology
HP:0009926Epiphora
HP:0011787Central hypothyroidism
HP:0012377Hemianopia
HP:0034323Reduced circulating growth hormone concentration
HP:0100761Visceral angiomatosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)