Multiple acyl-CoA dehydrogenase deficiency, mild type
ORPHA:394532Clinical subtypeAutosomal recessive
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC25A32 | solute carrier family 25 member 32 | Disease-causing germline mutation(s) in | gene with protein product | 138480 |
| FLAD1 | flavin adenine dinucleotide synthetase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610595 |
| ETFA | electron transfer flavoprotein subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 608053 |
| ETFB | electron transfer flavoprotein subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 130410 |
| ETFDH | electron transfer flavoprotein dehydrogenase | Disease-causing germline mutation(s) in | gene with protein product | 231675 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)