Dermatosparaxis Ehlers-Danlos syndrome
ORPHA:1901DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)35
Очень частый (80–99%)28
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000963Thin skin
HP:0000974Hyperextensible skin
HP:0001001Abnormality of subcutaneous fat tissue
HP:0001252Hypotonia
HP:0001367Abnormal joint morphology
HP:0001373Joint dislocation
HP:0001385Hip dysplasia
HP:0001387Joint stiffness
HP:0002020Gastroesophageal reflux
HP:0002036Hiatus hernia
HP:0002300Mutism
HP:0002381Aphasia
HP:0002673Coxa valga
HP:0002748Rickets
HP:0002749Osteomalacia
HP:0002812Coxa vara
HP:0002827Hip dislocation
HP:0003010Prolonged bleeding time
HP:0003510Severe short stature
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0007392Excessive wrinkled skin
HP:0010529Echolalia
HP:0100633Esophagitis
HP:0100699Scarring
HP:0100790Hernia
HP:0001382Joint hypermobility
Частый (30–79%)7
HP:0000023Inguinal hernia
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0002650Scoliosis
HP:0005280Depressed nasal bridge
HP:0100541Femoral hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)