Arterial tortuosity syndrome
ORPHA:3342Malformation syndromeAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)61
Очень частый (80–99%)7
HP:0001635Congestive heart failure
HP:0002616Aortic root aneurysm
HP:0002617Dilatation
HP:0004942Aortic aneurysm
HP:0005344Abnormality of the carotid arteries
HP:0100545Arterial stenosis
HP:0100585Telangiectasia of the skin
Частый (30–79%)14
HP:0000023Inguinal hernia
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000963Thin skin
HP:0000974Hyperextensible skin
HP:0001363Craniosynostosis
HP:0002647Aortic dissection
HP:0004415Pulmonary artery stenosis
HP:0010668Abnormal zygomatic bone morphology
HP:0012378Fatigue
HP:0100541Femoral hernia
HP:0001382Joint hypermobility
HP:0009099Median cleft palate
Периодический (5–29%)40
HP:0000256Macrocephaly
HP:0000272Malar flattening
HP:0000486Strabismus
HP:0000545Myopia
HP:0000563Keratoconus
HP:0000581Blepharophimosis
HP:0000822Hypertension
HP:0001119Keratoglobus
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001385Hip dysplasia
HP:0001582Redundant skin
HP:0001637Abnormal myocardium morphology
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001658Myocardial infarction
HP:0001695Cardiac arrest
HP:0001838Rocker bottom foot
HP:0002020Gastroesophageal reflux
HP:0002021Pyloric stenosis
HP:0002036Hiatus hernia
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002812Coxa vara
HP:0002827Hip dislocation
HP:0002878Respiratory failure
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006543Cardiorespiratory arrest
HP:0007495Prematurely aged appearance
HP:0011302Long palm
HP:0012745Short palpebral fissure
HP:0012819Myocarditis
HP:0100633Esophagitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 102 | 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)