Classical Ehlers-Danlos syndrome
ORPHA:287DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL5A2 | collagen type V alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120190 |
| COL5A1 | collagen type V alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120215 |
| COL1A1 | collagen type I alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120150 |
Фенотипы (HPO)66
Очень частый (80–99%)7
HP:0000974Hyperextensible skin
HP:0001027Soft, doughy skin
HP:0001030Fragile skin
HP:0001065Striae distensae
HP:0001073Cigarette-paper scars
HP:0001075Atrophic scars
HP:0002761Generalized joint laxity
Частый (30–79%)11
HP:0000938Osteopenia
HP:0001058Poor wound healing
HP:0001252Hypotonia
HP:0001324Muscle weakness
HP:0002013Vomiting
HP:0002018Nausea
HP:0002020Gastroesophageal reflux
HP:0003394Muscle spasm
HP:0003771Pulp calcification
HP:0012378Fatigue
HP:0012450Chronic constipation
Периодический (5–29%)43
HP:0000015Bladder diverticulum
HP:0000023Inguinal hernia
HP:0000139Uterine prolapse
HP:0000286Epicanthus
HP:0000481Abnormal cornea morphology
HP:0000978Bruising susceptibility
HP:0000993Molluscoid pseudotumors
HP:0001063Acrocyanosis
HP:0001270Motor delay
HP:0001386Joint swelling
HP:0001537Umbilical hernia
HP:0001622Premature birth
HP:0001760Abnormal foot morphology
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001788Premature rupture of membranes
HP:0002035Rectal prolapse
HP:0002036Hiatus hernia
HP:0002616Aortic root aneurysm
HP:0002650Scoliosis
HP:0002758Osteoarthritis
HP:0002827Hip dislocation
HP:0002829Arthralgia
HP:0002999Patellar dislocation
HP:0003010Prolonged bleeding time
HP:0003083Dislocated radial head
HP:0003834Shoulder dislocation
HP:0004872Incisional hernia
HP:0004944Dilatation of the cerebral artery
HP:0004947Arteriovenous fistula
HP:0005294Arterial dissection
HP:0006243Phalangeal dislocation
HP:0007495Prematurely aged appearance
HP:0009763Limb pain
HP:0010749Blepharochalasis
HP:0010750Dermatochalasis
HP:0010754Abnormality of the temporomandibular joint
HP:0025014Subcutaneous spheroids
HP:0025019Arterial rupture
HP:0025509Piezogenic pedal papules
HP:0030009Cervical insufficiency
HP:0031364Ecchymosis
HP:0031653Abnormal heart valve physiology
Очень редкий (1–4%)5
HP:0001278Orthostatic hypotension
HP:0001634Mitral valve prolapse
HP:0001653Mitral regurgitation
HP:0001704Tricuspid valve prolapse
HP:0002315Headache
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)