Autosomal recessive isolated optic atrophy
ORPHA:98676DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| YME1L1 | YME1 like 1 ATPase | Disease-causing germline mutation(s) in | gene with protein product | 607472 |
| MECR | mitochondrial trans-2-enoyl-CoA reductase | Disease-causing germline mutation(s) in | gene with protein product | 608205 |
| ACO2 | aconitase 2 | Disease-causing germline mutation(s) in | gene with protein product | 100850 |
| RTN4IP1 | reticulon 4 interacting protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 610502 |
| MCAT | malonyl-CoA-acyl carrier protein transacylase | Disease-causing germline mutation(s) in | gene with protein product | 614479 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)