Distal myopathy, Welander type
ORPHA:603DiseaseAutosomal dominantAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TIA1 | TIA1 cytotoxic granule associated RNA binding protein | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 603518 |
| SQSTM1 | sequestosome 1 | Modifying germline mutation in | gene with protein product | 601530 |
| TIA1 | TIA1 cytotoxic granule associated RNA binding protein | Modifying germline mutation in | gene with protein product | 603518 |
Фенотипы (HPO)13
Очень частый (80–99%)6
HP:0003458EMG: myopathic abnormalities
HP:0008954Intrinsic hand muscle atrophy
HP:0008959Distal upper limb muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0009077Weakness of long finger extensor muscles
HP:0003198Myopathy
Частый (30–79%)6
HP:0002312Clumsiness
HP:0003376Steppage gait
HP:0003805Rimmed vacuoles
HP:0007149Distal upper limb amyotrophy
HP:0008180Mildly elevated creatine kinase
HP:0001288Gait disturbance
Исключён (0%)1
HP:0001638Cardiomyopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 100 | Sweden | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)