Hypoplastic amelogenesis imperfecta
ORPHA:100031Clinical subtypeAutosomal dominant, Autosomal recessive, X-linked dominant
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ACP4 | acid phosphatase 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606362 |
| SP6 | Sp6 transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 608613 |
| ENAM | enamelin | Disease-causing germline mutation(s) in | gene with protein product | 606585 |
| LAMB3 | laminin subunit beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 150310 |
| ITGB6 | integrin subunit beta 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 147558 |
| AMBN | ameloblastin | Disease-causing germline mutation(s) in | gene with protein product | 601259 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)