Congenital myasthenic syndrome with glycosylation defect
ORPHA:353327Etiological subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 607905 |
| DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 191350 |
| GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | Disease-causing germline mutation(s) in | gene with protein product | 138292 |
| ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Disease-causing germline mutation(s) in | gene with protein product | 612866 |
| GMPPB | GDP-mannose pyrophosphorylase B | Disease-causing germline mutation(s) in | gene with protein product | 615320 |
Фенотипы (HPO)36
Частый (30–79%)14
HP:0000218High palate
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001290Generalized hypotonia
HP:0001763Pes planus
HP:0003198Myopathy
HP:0003325Limb-girdle muscle weakness
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473Fatigable weakness
HP:0003701Proximal muscle weakness
HP:0030191Abnormal peripheral nervous system synaptic transmission
HP:0030202Favorable response of weakness to acetylcholine esterase inhibitors
HP:0030205Increased jitter at single fibre EMG
HP:0100301Muscle fiber tubular inclusions
Периодический (5–29%)21
HP:0000508Ptosis
HP:0001288Gait disturbance
HP:0001371Flexion contracture
HP:0001382Joint hypermobility
HP:0002359Frequent falls
HP:0002421Poor head control
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002938Lumbar hyperlordosis
HP:0003200Ragged-red muscle fibers
HP:0003236Elevated circulating creatine kinase concentration
HP:0003388Easy fatigability
HP:0003391Gowers sign
HP:0003394Muscle spasm
HP:0003551Difficulty climbing stairs
HP:0003691Scapular winging
HP:0003803Type 1 muscle fiber predominance
HP:0006380Knee flexion contracture
HP:0009028Generalized weakness of limb muscles
HP:0009046Difficulty running
HP:0010628Facial palsy
Очень редкий (1–4%)1
HP:0002460Distal muscle weakness
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)