Cataract-microcornea syndrome
ORPHA:1377Malformation syndromeAutosomal dominant, Autosomal recessiveNeonatal
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CRYAA | crystallin alpha A | Disease-causing germline mutation(s) in | gene with protein product | 123580 |
| CRYBA4 | crystallin beta A4 | Disease-causing germline mutation(s) in | gene with protein product | 123631 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in | gene with protein product | 123620 |
| CRYGC | crystallin gamma C | Disease-causing germline mutation(s) in | gene with protein product | 123680 |
| CRYGD | crystallin gamma D | Disease-causing germline mutation(s) in | gene with protein product | 123690 |
| GJA8 | gap junction protein alpha 8 | Disease-causing germline mutation(s) in | gene with protein product | 600897 |
| CRYBB1 | crystallin beta B1 | Disease-causing germline mutation(s) in | gene with protein product | 600929 |
| MAF | MAF bZIP transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 177075 |
Фенотипы (HPO)7
Очень частый (80–99%)2
HP:0000482Microcornea
HP:0000518Cataract
Частый (30–79%)1
HP:0000545Myopia
Периодический (5–29%)4
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0001131Corneal dystrophy
HP:0007957Corneal opacity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)