Bethlem muscular dystrophy
ORPHA:610DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL6A1 | collagen type VI alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120220 |
| COL6A2 | collagen type VI alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120240 |
| COL6A3 | collagen type VI alpha 3 chain | Disease-causing germline mutation(s) in | gene with protein product | 120250 |
| COL12A1 | collagen type XII alpha 1 chain | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 120320 |
Фенотипы (HPO)39
Очень частый (80–99%)6
HP:0001324Muscle weakness
HP:0001371Flexion contracture
HP:0003458EMG: myopathic abnormalities
HP:0003560Muscular dystrophy
HP:0009073Progressive proximal muscle weakness
HP:0030095Reduced muscle collagen VI
Частый (30–79%)13
HP:0000467Neck muscle weakness
HP:0001220Interphalangeal joint contracture of finger
HP:0001239Wrist flexion contracture
HP:0001288Gait disturbance
HP:0002460Distal muscle weakness
HP:0002828Multiple joint contractures
HP:0003236Elevated circulating creatine kinase concentration
HP:0003325Limb-girdle muscle weakness
HP:0003731Quadriceps muscle weakness
HP:0006466Ankle flexion contracture
HP:0009058Increased muscle lipid content
HP:0100490Camptodactyly of finger
HP:0001288Gait disturbance
Периодический (5–29%)20
HP:0000962Hyperkeratosis
HP:0001073Cigarette-paper scars
HP:0001382Joint hypermobility
HP:0001771Achilles tendon contracture
HP:0002086Abnormality of the respiratory system
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002791Hypoventilation
HP:0002938Lumbar hyperlordosis
HP:0002987Elbow flexion contracture
HP:0003306Spinal rigidity
HP:0003327Axial muscle weakness
HP:0003391Gowers sign
HP:0003691Scapular winging
HP:0003700Generalized amyotrophy
HP:0003805Rimmed vacuoles
HP:0009027Foot dorsiflexor weakness
HP:0010176Curved toe phalanx
HP:0012497Reduced maximal expiratory pressure
HP:0032152Keratosis pilaris
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.77 | United Kingdom | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)