Sneddon syndrome
ORPHA:820DiseaseAutosomal dominant, Not applicableAdult
Ассоциированные гены1
Фенотипы (HPO)54
Облигатный (100%)1
HP:0033260Livedo racemosa
Очень частый (80–99%)11
HP:0000708Atypical behavior
HP:0000965Cutis marmorata
HP:0001727Thromboembolic stroke
HP:0002076Migraine
HP:0002120Cerebral cortical atrophy
HP:0002315Headache
HP:0002321Vertigo
HP:0002354Memory impairment
HP:0007141Sensorimotor neuropathy
HP:0011276Vascular skin abnormality
HP:0100545Arterial stenosis
Частый (30–79%)19
HP:0000726Dementia
HP:0000822Hypertension
HP:0001123Visual field defect
HP:0001268Mental deterioration
HP:0001269Hemiparesis
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0002326Transient ischemic attack
HP:0002376Developmental regression
HP:0007359Focal-onset seizure
HP:0010794Impaired visuospatial constructive cognition
HP:0011714Libman-Sacks lesions
HP:0012213Decreased glomerular filtration rate
HP:0025722Cerebral infarct
HP:0031987Diminished ability to concentrate
HP:0100543Cognitive impairment
HP:0100576Amaurosis fugax
Периодический (5–29%)21
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0000716Depression
HP:0001250Seizure
HP:0001337Tremor
HP:0001647Bicuspid aortic valve
HP:0002072Chorea
HP:0002170Intracranial hemorrhage
HP:0002381Aphasia
HP:0003613Antiphospholipid antibody positivity
HP:0009710Chilblains
HP:0009830Peripheral neuropathy
HP:0012246Oculomotor nerve palsy
HP:0020166Central retinal vein occlusion
HP:0025342Central retinal artery occlusion
HP:0030773Internuclear ophthalmoplegia
HP:0030880Raynaud phenomenon
HP:0033126Cutaneous necrosis
HP:0100704Cerebral visual impairment
HP:5200330Suicide behaviors
HP:6000139Splinter hemorrhages
Очень редкий (1–4%)2
HP:0002138Subarachnoid hemorrhage
HP:0030746Intraventricular hemorrhage
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)