Congenital or early infantile CACH syndrome
ORPHA:157713Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| 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 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)