Distal hereditary motor neuropathy type 2
ORPHA:139525DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HSPB1 | heat shock protein family B (small) member 1 | Disease-causing germline mutation(s) in | gene with protein product | 602195 |
| HSPB8 | heat shock protein family B (small) member 8 | Disease-causing germline mutation(s) in | gene with protein product | 608014 |
| HSPB3 | heat shock protein family B (small) member 3 | Disease-causing germline mutation(s) in | gene with protein product | 604624 |
| FBXO38 | F-box protein 38 | Disease-causing germline mutation(s) in | gene with protein product | 608533 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 4 | Worldwide | Family(ies) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)