Usher syndrome type 2
ORPHA:231178Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| USH2A | usherin | Disease-causing germline mutation(s) in | gene with protein product | 608400 |
| ADGRV1 | adhesion G protein-coupled receptor V1 | Disease-causing germline mutation(s) in | gene with protein product | 602851 |
| MYO7A | myosin VIIA | Disease-causing germline mutation(s) in | gene with protein product | 276903 |
| WHRN | whirlin | Disease-causing germline mutation(s) in | gene with protein product | 607928 |
| PDZD7 | PDZ domain containing 7 | Modifying germline mutation in | gene with protein product | 612971 |
Фенотипы (HPO)21
Очень частый (80–99%)7
HP:0000359Abnormality of the inner ear
HP:0000407Sensorineural hearing impairment
HP:0000510Rod-cone dystrophy
HP:0000512Abnormal electroretinogram
HP:0000572Visual loss
HP:0000575Scotoma
HP:0007730Iris hypopigmentation
Частый (30–79%)8
HP:0000518Cataract
HP:0000545Myopia
HP:0000662Nyctalopia
HP:0001133Constriction of peripheral visual field
HP:0002360Sleep abnormality
HP:0007663Reduced visual acuity
HP:0007994Peripheral visual field loss
HP:0012378Fatigue
Периодический (5–29%)5
HP:0000551Color vision defect
HP:0000716Depression
HP:0000739Anxiety
HP:0002141Gait imbalance
HP:0032036Reduced contrast sensitivity
Очень редкий (1–4%)1
HP:0001751Abnormal vestibular function
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.2 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)