Moyamoya disease
ORPHA:2573DiseaseAutosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessiveAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DIAPH1 | diaphanous related formin 1 | Disease-causing germline mutation(s) in | gene with protein product | 602121 |
| ACTA2 | actin alpha 2, smooth muscle | Major susceptibility factor in | gene with protein product | 102620 |
| RNF213 | ring finger protein 213 | Major susceptibility factor in | gene with protein product | 613768 |
Фенотипы (HPO)5
Очень частый (80–99%)1
HP:0001009Telangiectasia
Частый (30–79%)4
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0002119Ventriculomegaly
HP:0100659Abnormality of the cerebral vasculature
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.74 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.2 | Japan | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.43 | China | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.92 | China | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.048 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.44 | Taiwan, Province of China | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.086 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.33 | France | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.035 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)