Colobomatous microphthalmia
ORPHA:98938Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены14
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SHH | sonic hedgehog signaling molecule | Disease-causing germline mutation(s) in | gene with protein product | 600725 |
| STRA6 | signaling receptor and transporter of retinol STRA6 | Disease-causing germline mutation(s) in | gene with protein product | 610745 |
| VSX2 | visual system homeobox 2 | Disease-causing germline mutation(s) in | gene with protein product | 142993 |
| GDF6 | growth differentiation factor 6 | Candidate gene tested in | gene with protein product | 601147 |
| GDF3 | growth differentiation factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 606522 |
| ABCB6 | ATP binding cassette subfamily B member 6 (LAN blood group) | Disease-causing germline mutation(s) in | gene with protein product | 605452 |
| TENM3 | teneurin transmembrane protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 610083 |
| RBP4 | retinol binding protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 180250 |
| SOX2 | SRY-box transcription factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 184429 |
| SIX6 | SIX homeobox 6 | Candidate gene tested in | gene with protein product | 606326 |
| OTX2 | orthodenticle homeobox 2 | Disease-causing germline mutation(s) in | gene with protein product | 600037 |
| RAX | retina and anterior neural fold homeobox | Disease-causing germline mutation(s) in | gene with protein product | 601881 |
| ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | Disease-causing germline mutation(s) in | gene with protein product | 600463 |
| PORCN | porcupine O-acyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 300651 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 19 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 19 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)