Stickler syndrome type 1
ORPHA:90653Clinical subtypeAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)8
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000518Cataract
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0002652Skeletal dysplasia
HP:0003196Short nose
HP:0004327Abnormal vitreous humor morphology
Частый (30–79%)11
HP:0000175Cleft palate
HP:0000407Sensorineural hearing impairment
HP:0000520Proptosis
HP:0000926Platyspondyly
HP:0001634Mitral valve prolapse
HP:0002758Osteoarthritis
HP:0002829Arthralgia
HP:0005930Abnormality of epiphysis morphology
HP:0100734Abnormality of vertebral epiphysis morphology
HP:6000015Tympanic membrane hypermobility
HP:0001382Joint hypermobility
Периодический (5–29%)2
HP:0000572Visual loss
HP:0001249Intellectual disability
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)