Total early-onset cataract
ORPHA:98994Clinical subtypeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены17
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CRYAA | crystallin alpha A | Disease-causing germline mutation(s) in | gene with protein product | 123580 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in | gene with protein product | 123620 |
| GJA8 | gap junction protein alpha 8 | Disease-causing germline mutation(s) in | gene with protein product | 600897 |
| HSF4 | heat shock transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 602438 |
| MIP | major intrinsic protein of lens fiber | Disease-causing germline mutation(s) in | gene with protein product | 154050 |
| NHS | NHS actin remodeling regulator | Candidate gene tested in | gene with protein product | 300457 |
| LIM2 | lens intrinsic membrane protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 154045 |
| EPHA2 | EPH receptor A2 | Disease-causing germline mutation(s) in | gene with protein product | 176946 |
| FYCO1 | FYVE and coiled-coil domain autophagy adaptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 607182 |
| AGK | acylglycerol kinase | Disease-causing germline mutation(s) in | gene with protein product | 610345 |
| CRYGB | crystallin gamma B | Disease-causing germline mutation(s) in | gene with protein product | 123670 |
| GCNT2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Disease-causing germline mutation(s) in | gene with protein product | 600429 |
| LSS | lanosterol synthase | Disease-causing germline mutation(s) in | gene with protein product | 600909 |
| PGRMC1 | progesterone receptor membrane component 1 | Disease-causing germline mutation(s) in | gene with protein product | 300435 |
| LEMD2 | LEM domain nuclear envelope protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 616312 |
| DNMBP | dynamin binding protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611282 |
| SIPA1L3 | signal induced proliferation associated 1 like 3 | Disease-causing germline mutation(s) in | gene with protein product | 616655 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)