Perrault syndrome type 1
ORPHA:642945Clinical subtype
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PRORP | protein only RNase P catalytic subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609947 |
| CLPP | caseinolytic mitochondrial matrix peptidase proteolytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 601119 |
| ERAL1 | Era like 12S mitochondrial rRNA chaperone 1 | Disease-causing germline mutation(s) in | gene with protein product | 607435 |
| HARS2 | histidyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in | gene with protein product | 600783 |
| HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | Disease-causing germline mutation(s) in | gene with protein product | 601860 |
| LARS2 | leucyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in | gene with protein product | 604544 |
| TWNK | twinkle mtDNA helicase | Disease-causing germline mutation(s) in | gene with protein product | 606075 |
| GGPS1 | geranylgeranyl diphosphate synthase 1 | Disease-causing germline mutation(s) in | gene with protein product | 606982 |
| RMND1 | required for meiotic nuclear division 1 homolog | Disease-causing germline mutation(s) in | gene with protein product | 614917 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)