Aneurysm-osteoarthritis syndrome
ORPHA:284984DiseaseAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)3
HP:0001763Pes planus
HP:0002617Dilatation
HP:0011645Dilatation of the sinus of Valsalva
Частый (30–79%)29
HP:0000023Inguinal hernia
HP:0000139Uterine prolapse
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000272Malar flattening
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000689Dental malocclusion
HP:0000978Bruising susceptibility
HP:0000987Atypical scarring of skin
HP:0001065Striae distensae
HP:0001166Arachnodactyly
HP:0001537Umbilical hernia
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0002076Migraine
HP:0002315Headache
HP:0002647Aortic dissection
HP:0002650Scoliosis
HP:0002758Osteoarthritis
HP:0003179Protrusio acetabuli
HP:0004268Osteoarthritis of the small joints of the hand
HP:0004944Dilatation of the cerebral artery
HP:0005086Knee osteoarthritis
HP:0005116Arterial tortuosity
HP:0005294Arterial dissection
HP:0012432Chronic fatigue
HP:0025487Abnormality of bladder morphology
Периодический (5–29%)15
HP:0000278Retrognathia
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001382Joint hypermobility
HP:0001519Disproportionate tall stature
HP:0001627Abnormal heart morphology
HP:0001642Pulmonic stenosis
HP:0001712Left ventricular hypertrophy
HP:0003302Spondylolisthesis
HP:0005110Atrial fibrillation
HP:0005112Abdominal aortic aneurysm
HP:0008419Intervertebral disc degeneration
HP:0010886Osteochondritis Dissecans
HP:0100490Camptodactyly of finger
HP:0100775Dural ectasia
Очень редкий (1–4%)3
HP:0000175Cleft palate
HP:0000939Osteoporosis
HP:0001643Patent ductus arteriosus
Исключён (0%)1
HP:0001363Craniosynostosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 45 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)