Marfan syndrome
ORPHA:558DiseaseAutosomal dominantAll ages
Фенотипы (HPO)68
Очень частый (80–99%)10
HP:0001519Disproportionate tall stature
HP:0001533Slender build
HP:0001763Pes planus
HP:0002108Spontaneous pneumothorax
HP:0002616Aortic root aneurysm
HP:0004942Aortic aneurysm
HP:0012432Chronic fatigue
HP:0000768Pectus carinatum
HP:0001065Striae distensae
HP:0001166Arachnodactyly
Частый (30–79%)24
HP:0000275Narrow face
HP:0000505Visual impairment
HP:0000545Myopia
HP:0000678Dental crowding
HP:0000767Pectus excavatum
HP:0001083Ectopia lentis
HP:0001132Lens subluxation
HP:0001382Joint hypermobility
HP:0001634Mitral valve prolapse
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0001704Tricuspid valve prolapse
HP:0002360Sleep abnormality
HP:0002647Aortic dissection
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0003179Protrusio acetabuli
HP:0004970Ascending tubular aorta aneurysm
HP:0005059Arthralgia/arthritis
HP:0007800Increased axial length of the globe
HP:0010535Sleep apnea
HP:0010668Abnormal zygomatic bone morphology
HP:0012019Lens luxation
HP:0100775Dural ectasia
Периодический (5–29%)34
HP:0000023Inguinal hernia
HP:0000175Cleft palate
HP:0000268Dolichocephaly
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000541Retinal detachment
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001252Hypotonia
HP:0001635Congestive heart failure
HP:0002097Emphysema
HP:0002105Hemoptysis
HP:0002435Meningocele
HP:0002636Aneurysm of an abdominal artery
HP:0002808Kyphosis
HP:0002996Limited elbow movement
HP:0003202Skeletal muscle atrophy
HP:0003302Spondylolisthesis
HP:0003326Myalgia
HP:0004326Cachexia
HP:0004349Reduced bone mineral density
HP:0004382Mitral valve calcification
HP:0004756Ventricular tachycardia
HP:0004927Pulmonary artery dilatation
HP:0005162Abnormal left ventricular function
HP:0005294Arterial dissection
HP:0006687Aortic tortuosity
HP:0007018Attention deficit hyperactivity disorder
HP:0007676Hypoplasia of the iris
HP:0007720Flat cornea
HP:0010807Open bite
HP:0100785Insomnia
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 25 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 15 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10.2 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 7 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)