Lethal multiple pterygium syndrome
ORPHA:33108Malformation syndromeAutosomal recessive, X-linked recessiveAntenatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NEB | nebulin | Disease-causing germline mutation(s) in | gene with protein product | 161650 |
| RAPSN | receptor associated protein of the synapse | Candidate gene tested in | gene with protein product | 601592 |
| RYR1 | ryanodine receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 180901 |
| CHRNA1 | cholinergic receptor nicotinic alpha 1 subunit | Disease-causing germline mutation(s) in | gene with protein product | 100690 |
| CHRND | cholinergic receptor nicotinic delta subunit | Disease-causing germline mutation(s) in | gene with protein product | 100720 |
| CHRNG | cholinergic receptor nicotinic gamma subunit | Disease-causing germline mutation(s) in | gene with protein product | 100730 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 28 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)