Brittle cornea syndrome
ORPHA:90354DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)34
Очень частый (80–99%)6
HP:0000974Hyperextensible skin
HP:0000977Soft skin
HP:0001119Keratoglobus
HP:0001131Corneal dystrophy
HP:0011003High myopia
HP:0100689Decreased corneal thickness
Частый (30–79%)11
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000559Corneal scarring
HP:0000572Visual loss
HP:0000592Blue sclerae
HP:0000939Osteoporosis
HP:0000978Bruising susceptibility
HP:0001288Gait disturbance
HP:0003326Myalgia
HP:0009887Abnormality of hair pigmentation
HP:0001382Joint hypermobility
Периодический (5–29%)17
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000501Glaucoma
HP:0000541Retinal detachment
HP:0001166Arachnodactyly
HP:0001319Neonatal hypotonia
HP:0001385Hip dysplasia
HP:0001634Mitral valve prolapse
HP:0001642Pulmonic stenosis
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0005930Abnormality of epiphysis morphology
HP:0012385Camptodactyly
HP:0100790Hernia
HP:0200020Corneal erosion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 65 | 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)