Postaxial polydactyly type A
ORPHA:93334Morphological anomalyAutosomal recessiveAntenatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GLI1 | GLI family zinc finger 1 | Disease-causing germline mutation(s) in | gene with protein product | 165220 |
| KIAA0825 | KIAA0825 | Disease-causing germline mutation(s) in | gene with protein product | 617266 |
| ZNF141 | zinc finger protein 141 | Disease-causing germline mutation(s) in | gene with protein product | 194648 |
| IQCE | IQ motif containing E | Disease-causing germline mutation(s) in | gene with protein product | 617631 |
| GLI3 | GLI family zinc finger 3 | Disease-causing germline mutation(s) in | gene with protein product | 165240 |
| CIBAR1 | CBY1 interacting BAR domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 617273 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15.7 | Mexico | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 15.7 | Mexico | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)