Familial cerebral saccular aneurysm
ORPHA:231160DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ANGPTL6 | angiopoietin like 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609336 |
| COL3A1 | collagen type III alpha 1 chain | Candidate gene tested in | gene with protein product | 120180 |
| ENG | endoglin | Major susceptibility factor in | gene with protein product | 131195 |
| TGFBR3 | transforming growth factor beta receptor 3 | Candidate gene tested in | gene with protein product | 600742 |
| THSD1 | thrombospondin type 1 domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 616821 |
Фенотипы (HPO)15
Облигатный (100%)1
HP:0007029Cerebral berry aneurysm
Частый (30–79%)8
HP:0000822Hypertension
HP:0001123Visual field defect
HP:0001250Seizure
HP:0001269Hemiparesis
HP:0002326Transient ischemic attack
HP:0002363Abnormal brainstem morphology
HP:0002621Atherosclerosis
HP:0012518Abnormality of circle of Willis
Периодический (5–29%)6
HP:0002138Subarachnoid hemorrhage
HP:0002170Intracranial hemorrhage
HP:0002616Aortic root aneurysm
HP:0002647Aortic dissection
HP:0012246Oculomotor nerve palsy
HP:0040197Encephalomalacia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)