Usher syndrome
ORPHA:886DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)10
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000512Abnormal electroretinogram
HP:0000529Progressive visual loss
HP:0000618Blindness
HP:0000662Nyctalopia
HP:0001123Visual field defect
HP:0001751Abnormal vestibular function
HP:0007703Abnormality of retinal pigmentation
HP:0008568Vestibular areflexia
Частый (30–79%)4
HP:0000518Cataract
HP:0000545Myopia
HP:0001251Ataxia
HP:0008499High hypermetropia
Периодический (5–29%)23
HP:0000360Tinnitus
HP:0000483Astigmatism
HP:0000639Nystagmus
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000691Microdontia
HP:0000709Psychosis
HP:0000716Depression
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0001639Hypertrophic cardiomyopathy
HP:0002120Cerebral cortical atrophy
HP:0002194Delayed gross motor development
HP:0002312Clumsiness
HP:0003198Myopathy
HP:0003457EMG abnormality
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007994Peripheral visual field loss
HP:0008947Floppy infant
HP:0010780Hyperacusis
HP:0011025Abnormality of cardiovascular system physiology
HP:0011073Abnormality of dental color
HP:0031936Delayed ability to walk
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.53 | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 5 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.2 | Germany | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.2 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.6 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.2 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.5 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.4 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.2 | Colombia | Value and class |
| Point prevalence | 1-9 / 100 000 | 3 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)