Ullrich congenital muscular dystrophy
ORPHA:75840DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
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) (loss of function) in | gene with protein product | 120320 |
Фенотипы (HPO)31
Очень частый (80–99%)12
HP:0000174Abnormal palate morphology
HP:0001371Flexion contracture
HP:0002808Kyphosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003306Spinal rigidity
HP:0003324Generalized muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0003557Increased variability in muscle fiber diameter
HP:0004303Abnormal muscle fiber morphology
HP:0005072Hyperextensibility at wrists
HP:0006149Increased laxity of fingers
HP:0100297Increased endomysial connective tissue
Частый (30–79%)19
HP:0001290Generalized hypotonia
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000473Torticollis
HP:0000565Esotropia
HP:0001181Adducted thumb
HP:0001238Slender finger
HP:0001324Muscle weakness
HP:0001558Decreased fetal movement
HP:0002359Frequent falls
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0002878Respiratory failure
HP:0002987Elbow flexion contracture
HP:0003700Generalized amyotrophy
HP:0006380Knee flexion contracture
HP:0008081Pes valgus
HP:0009113Diaphragmatic weakness
HP:0010511Long toe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | 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)