Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ORPHA:247691DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)3
HP:0002500Abnormal cerebral white matter morphology
HP:0008046Abnormal retinal vascular morphology
HP:0030880Raynaud phenomenon
Частый (30–79%)16
HP:0000093Proteinuria
HP:0000096Glomerulosclerosis
HP:0000112Nephropathy
HP:0000708Atypical behavior
HP:0000822Hypertension
HP:0001895Normochromic anemia
HP:0001897Normocytic anemia
HP:0002076Migraine
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003259Elevated circulating creatinine concentration
HP:0006707Abnormality of the hepatic vasculature
HP:0008223Compensated hypothyroidism
HP:0011954Nodular regenerative hyperplasia of liver
HP:0030948Elevated gamma-glutamyltransferase level
HP:0100543Cognitive impairment
HP:0410263Brain imaging abnormality
Периодический (5–29%)28
HP:0000501Glaucoma
HP:0000709Psychosis
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0000741Apathy
HP:0001009Telangiectasia
HP:0001123Visual field defect
HP:0001269Hemiparesis
HP:0001638Cardiomyopathy
HP:0002077Migraine with aura
HP:0002083Migraine without aura
HP:0002090Pneumonia
HP:0002197Generalized-onset seizure
HP:0002239Gastrointestinal hemorrhage
HP:0002344Progressive neurologic deterioration
HP:0002354Memory impairment
HP:0002381Aphasia
HP:0002514Cerebral calcification
HP:0011163Somatosensory auras
HP:0012377Hemianopia
HP:0030319Weakness of facial musculature
HP:0030666Retinal neovascularization
HP:0031606Retinal cotton wool spot
HP:0040049Macular edema
HP:0040328Focal hyperintensity of cerebral white matter on MRI
HP:0040331Focal hypointensity of cerebral white matter on MRI
HP:0100806Sepsis
Очень редкий (1–4%)3
HP:0000988Skin rash
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0200030Punctate vasculitis skin lesions
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)