Distal hereditary motor neuropathy type 5
ORPHA:139536DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| REEP1 | receptor accessory protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 609139 |
| BSCL2 | BSCL2 lipid droplet biogenesis associated, seipin | Disease-causing germline mutation(s) in | gene with protein product | 606158 |
| GARS1 | glycyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 600287 |
Фенотипы (HPO)16
Частый (30–79%)11
HP:0002317Unsteady gait
HP:0002495Impaired vibratory sensation
HP:0003392First dorsal interossei muscle weakness
HP:0003393Thenar muscle atrophy
HP:0003426First dorsal interossei muscle atrophy
HP:0003427Thenar muscle weakness
HP:0003435Cold-induced hand cramps
HP:0003484Upper limb muscle weakness
HP:0003693Distal amyotrophy
HP:0007178Motor polyneuropathy
HP:0009053Distal lower limb muscle weakness
Периодический (5–29%)4
HP:0001347Hyperreflexia
HP:0001761Pes cavus
HP:0001765Hammertoe
HP:0008081Pes valgus
Очень редкий (1–4%)1
HP:0040131Abnormal motor nerve conduction velocity
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)