Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
ORPHA:199354DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)32
Частый (30–79%)13
HP:0000708Atypical behavior
HP:0001257Spasticity
HP:0001288Gait disturbance
HP:0002401Stroke-like episode
HP:0002497Spastic ataxia
HP:0002634Arteriosclerosis
HP:0003418Back pain
HP:0007024Pseudobulbar paralysis
HP:0008480Cervical spondylosis
HP:0012514Lower limb pain
HP:0030892Deep cerebral white matter hyperdensities
HP:0040161Localized osteoporosis
HP:0100543Cognitive impairment
Периодический (5–29%)16
HP:0000712Emotional lability
HP:0000718Aggressive behavior
HP:0000726Dementia
HP:0000737Irritability
HP:0000741Apathy
HP:0001268Mental deterioration
HP:0001269Hemiparesis
HP:0001297Stroke
HP:0002063Rigidity
HP:0002293Alopecia of scalp
HP:0002506Diffuse cerebral atrophy
HP:0003474Somatic sensory dysfunction
HP:0007256Abnormal pyramidal sign
HP:0012671Abulia
HP:0012672Akinetic mutism
HP:0030833Neck pain
Очень редкий (1–4%)2
HP:0002069Bilateral tonic-clonic seizure
HP:0002751Kyphoscoliosis
Исключён (0%)1
HP:0003657Granular osmiophilic deposits (GROD) in cells
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)