Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
ORPHA:136DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)4
HP:0002352Leukoencephalopathy
HP:0002500Abnormal cerebral white matter morphology
HP:0032325Lacunar stroke
HP:0040329Multifocal hyperintensity of cerebral white matter on MRI
Частый (30–79%)8
HP:0000712Emotional lability
HP:0000741Apathy
HP:0001297Stroke
HP:0002076Migraine
HP:0002077Migraine with aura
HP:0002326Transient ischemic attack
HP:0002637Cerebral ischemia
HP:0100543Cognitive impairment
Периодический (5–29%)27
HP:0000716Depression
HP:0000726Dementia
HP:0000739Anxiety
HP:0000819Diabetes mellitus
HP:0000822Hypertension
HP:0001250Seizure
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001289Confusion
HP:0001298Encephalopathy
HP:0001300Parkinsonism
HP:0001342Cerebral hemorrhage
HP:0002015Dysphagia
HP:0002140Ischemic stroke
HP:0002170Intracranial hemorrhage
HP:0002301Hemiplegia
HP:0002333Motor deterioration
HP:0002354Memory impairment
HP:0002463Language impairment
HP:0007185Loss of consciousness
HP:0007236Recurrent subcortical infarcts
HP:0010794Impaired visuospatial constructive cognition
HP:0010992Stress urinary incontinence
HP:0012444Brain atrophy
HP:0031843Bradyphrenia
HP:0100545Arterial stenosis
Очень редкий (1–4%)1
HP:0002381Aphasia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 3 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)