Hypermobile Ehlers-Danlos syndrome
ORPHA:285DiseaseAutosomal dominant, Autosomal recessiveAll ages
Фенотипы (HPO)70
Очень частый (80–99%)14
HP:0000974Hyperextensible skin
HP:0001063Acrocyanosis
HP:0001373Joint dislocation
HP:0001382Joint hypermobility
HP:0001760Abnormal foot morphology
HP:0002321Vertigo
HP:0002360Sleep abnormality
HP:0002645Wormian bones
HP:0002827Hip dislocation
HP:0002829Arthralgia
HP:0003042Elbow dislocation
HP:0003326Myalgia
HP:0012378Fatigue
HP:0001382Joint hypermobility
Частый (30–79%)20
HP:0000678Dental crowding
HP:0000716Depression
HP:0000739Anxiety
HP:0000762Decreased nerve conduction velocity
HP:0000963Thin skin
HP:0000977Soft skin
HP:0000978Bruising susceptibility
HP:0001065Striae distensae
HP:0001166Arachnodactyly
HP:0001634Mitral valve prolapse
HP:0001763Pes planus
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0002024Malabsorption
HP:0002035Rectal prolapse
HP:0002076Migraine
HP:0002758Osteoarthritis
HP:0011675Arrhythmia
HP:0012532Chronic pain
HP:0031607Pelvic organ prolapse
Периодический (5–29%)36
HP:0000023Inguinal hernia
HP:0000144Decreased fertility
HP:0000212Gingival overgrowth
HP:0000230Gingivitis
HP:0000286Epicanthus
HP:0000421Epistaxis
HP:0000508Ptosis
HP:0000563Keratoconus
HP:0000691Microdontia
HP:0000987Atypical scarring of skin
HP:0001097Keratoconjunctivitis sicca
HP:0001376Limitation of joint mobility
HP:0001482Subcutaneous nodule
HP:0001537Umbilical hernia
HP:0002020Gastroesophageal reflux
HP:0002104Apnea
HP:0002579Gastrointestinal dysmotility
HP:0002616Aortic root aneurysm
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002797Osteolysis
HP:0003019Abnormality of the wrist
HP:0003401Paresthesia
HP:0004970Ascending tubular aorta aneurysm
HP:0005293Venous insufficiency
HP:0005294Arterial dissection
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011003High myopia
HP:0012332Abnormal autonomic nervous system physiology
HP:0012732Anorectal anomaly
HP:0030880Raynaud phenomenon
HP:0032152Keratosis pilaris
HP:0100550Tendon rupture
HP:0100645Cystocele
HP:0100823Genital hernia
HP:0400008Menometrorrhagia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 12.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)