Cardiac-valvular Ehlers-Danlos syndrome
ORPHA:230851DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)4
HP:0000974Hyperextensible skin
HP:0001382Joint hypermobility
HP:0001653Mitral regurgitation
HP:0001654Abnormal heart valve morphology
Частый (30–79%)22
HP:0000023Inguinal hernia
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000545Myopia
HP:0000678Dental crowding
HP:0000767Pectus excavatum
HP:0000963Thin skin
HP:0000978Bruising susceptibility
HP:0001027Soft, doughy skin
HP:0001058Poor wound healing
HP:0001075Atrophic scars
HP:0001373Joint dislocation
HP:0001659Aortic regurgitation
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0002616Aortic root aneurysm
HP:0002816Genu recurvatum
HP:0002857Genu valgum
HP:0005180Tricuspid regurgitation
HP:0006109Absent phalangeal crease
HP:0006201Hypermobility of distal interphalangeal joints
HP:0100807Long fingers
Периодический (5–29%)23
HP:0000218High palate
HP:0000414Bulbous nose
HP:0000574Thick eyebrow
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001519Disproportionate tall stature
HP:0001631Atrial septal defect
HP:0001634Mitral valve prolapse
HP:0001712Left ventricular hypertrophy
HP:0001848Calcaneovalgus deformity
HP:0001852Sandal gap
HP:0002094Dyspnea
HP:0002342Intellectual disability, moderate
HP:0002751Kyphoscoliosis
HP:0002944Thoracolumbar scoliosis
HP:0004322Short stature
HP:0010444Pulmonary insufficiency
HP:0012378Fatigue
HP:0012717Severe conductive hearing impairment
HP:0031610Recurrent shoulder dislocation
HP:0032523Tendon thickening
HP:0100550Tendon rupture
HP:0500041Myopic astigmatism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)