Ovarioleukodystrophy
ORPHA:99853Clinical subtypeAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| EIF2B1 | eukaryotic translation initiation factor 2B subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 606686 |
| EIF2B2 | eukaryotic translation initiation factor 2B subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 606454 |
| EIF2B3 | eukaryotic translation initiation factor 2B subunit gamma | Disease-causing germline mutation(s) in | gene with protein product | 606273 |
| EIF2B4 | eukaryotic translation initiation factor 2B subunit delta | Disease-causing germline mutation(s) in | gene with protein product | 606687 |
| EIF2B5 | eukaryotic translation initiation factor 2B subunit epsilon | Disease-causing germline mutation(s) in | gene with protein product | 603945 |
| AARS2 | alanyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 612035 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)