Vascular Ehlers-Danlos syndrome
ORPHA:286DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)95
Очень частый (80–99%)35
HP:0000015Bladder diverticulum
HP:0000028Cryptorchidism
HP:0000190Abnormal oral frenulum morphology
HP:0000271Abnormality of the face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000411Protruding ear
HP:0000499Abnormal eyelash morphology
HP:0000506Telecanthus
HP:0000670Carious teeth
HP:0000767Pectus excavatum
HP:0000822Hypertension
HP:0000912Sprengel anomaly
HP:0000951Abnormality of the skin
HP:0000963Thin skin
HP:0000978Bruising susceptibility
HP:0000995Melanocytic nevus
HP:0001263Global developmental delay
HP:0001634Mitral valve prolapse
HP:0001654Abnormal heart valve morphology
HP:0001892Abnormal bleeding
HP:0002107Pneumothorax
HP:0002617Dilatation
HP:0002647Aortic dissection
HP:0002900Hypokalemia
HP:0004322Short stature
HP:0005244Gastrointestinal infarctions
HP:0007495Prematurely aged appearance
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0010648Dermal translucency
HP:0011029Internal hemorrhage
HP:0012733Macule
HP:0100543Cognitive impairment
HP:0100784Peripheral arteriovenous fistula
HP:0100840Aplasia/Hypoplasia of the eyebrow
Частый (30–79%)12
HP:0000233Thin vermilion border
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0001622Premature birth
HP:0001762Talipes equinovarus
HP:0002093Respiratory insufficiency
HP:0002619Varicose veins
HP:0002642Arteriovenous fistulas of celiac and mesenteric vessels
HP:0004947Arteriovenous fistula
HP:0005294Arterial dissection
HP:0012368Flat face
HP:0100585Telangiectasia of the skin
Периодический (5–29%)48
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000139Uterine prolapse
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000168Abnormality of the gingiva
HP:0000212Gingival overgrowth
HP:0000230Gingivitis
HP:0000446Narrow nasal bridge
HP:0000490Deeply set eye
HP:0000508Ptosis
HP:0000563Keratoconus
HP:0000592Blue sclerae
HP:0000615Abnormal pupil morphology
HP:0000691Microdontia
HP:0000704Periodontitis
HP:0001000Abnormality of skin pigmentation
HP:0001073Cigarette-paper scars
HP:0001373Joint dislocation
HP:0001374Congenital hip dislocation
HP:0001482Subcutaneous nodule
HP:0001537Umbilical hernia
HP:0001582Redundant skin
HP:0001596Alopecia
HP:0002076Migraine
HP:0002105Hemoptysis
HP:0002242Abnormal intestine morphology
HP:0002321Vertigo
HP:0002326Transient ischemic attack
HP:0002705High, narrow palate
HP:0002758Osteoarthritis
HP:0002797Osteolysis
HP:0004372Reduced consciousness/confusion
HP:0004937Pulmonary artery aneurysm
HP:0004942Aortic aneurysm
HP:0004970Ascending tubular aorta aneurysm
HP:0006323Premature loss of primary teeth
HP:0007392Excessive wrinkled skin
HP:0007900Hypoplastic lacrimal duct
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0010535Sleep apnea
HP:0010719Abnormality of hair texture
HP:0030680Abnormal cardiovascular system morphology
HP:0100545Arterial stenosis
HP:0100645Cystocele
HP:0100718Uterine rupture
HP:0100817Renovascular hypertension
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)