Rare mitochondrial non-syndromic sensorineural deafness
ORPHA:90641Etiological subtypeMitochondrial inheritanceChildhood, Infancy
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| POU3F4 | POU class 3 homeobox 4 | Disease-causing germline mutation(s) in | gene with protein product | 300039 |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Candidate gene tested in | gene with protein product | 516003 |
| TFB1M | transcription factor B1, mitochondrial | Modifying germline mutation in | gene with protein product | 607033 |
| TRMU | tRNA mitochondrial 2-thiouridylase | Modifying germline mutation in | gene with protein product | 610230 |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Disease-causing germline mutation(s) in | gene with protein product | 516030 |
| MT-RNR1 | mitochondrially encoded 12S rRNA | Disease-causing germline mutation(s) in | Non-coding RNA | 561000 |
| MT-TH | mitochondrially encoded tRNA-His (CAU/C) | Disease-causing germline mutation(s) in | Non-coding RNA | 590040 |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | Disease-causing germline mutation(s) in | Non-coding RNA | 590080 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)