Usher syndrome type 3
ORPHA:231183Clinical subtypeAutosomal recessiveAdolescent, Childhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CEP78 | centrosomal protein 78 | Disease-causing germline mutation(s) in | gene with protein product | 617110 |
| ARSG | arylsulfatase G | Disease-causing germline mutation(s) in | gene with protein product | 610008 |
| CLRN1 | clarin 1 | Disease-causing germline mutation(s) in | gene with protein product | 606397 |
| MT-TS2 | mitochondrially encoded tRNA-Ser (AGU/C) 2 | Disease-causing germline mutation(s) in | Non-coding RNA | 590085 |
| HARS1 | histidyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 142810 |
Фенотипы (HPO)12
Очень частый (80–99%)9
HP:0000375Abnormal cochlea morphology
HP:0000407Sensorineural hearing impairment
HP:0000510Rod-cone dystrophy
HP:0000512Abnormal electroretinogram
HP:0000572Visual loss
HP:0000575Scotoma
HP:0000662Nyctalopia
HP:0001756Vestibular hypofunction
HP:0007730Iris hypopigmentation
Периодический (5–29%)3
HP:0001751Abnormal vestibular function
HP:0000716Depression
HP:0000739Anxiety
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 100 000 | 1.2 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)