Postsynaptic congenital myasthenic syndrome
ORPHA:98913Etiological subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены16
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RAPSN | receptor associated protein of the synapse | Disease-causing germline mutation(s) in | gene with protein product | 601592 |
| SCN4A | sodium voltage-gated channel alpha subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 603967 |
| CHRNA1 | cholinergic receptor nicotinic alpha 1 subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 100690 |
| CHRNA1 | cholinergic receptor nicotinic alpha 1 subunit | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 100690 |
| CHRNB1 | cholinergic receptor nicotinic beta 1 subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 100710 |
| CHRNB1 | cholinergic receptor nicotinic beta 1 subunit | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 100710 |
| CHRND | cholinergic receptor nicotinic delta subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 100720 |
| CHRND | cholinergic receptor nicotinic delta subunit | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 100720 |
| CHRNE | cholinergic receptor nicotinic epsilon subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 100725 |
| CHRNE | cholinergic receptor nicotinic epsilon subunit | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 100725 |
| DOK7 | docking protein 7 | Disease-causing germline mutation(s) in | gene with protein product | 610285 |
| MUSK | muscle associated receptor tyrosine kinase | Disease-causing germline mutation(s) in | gene with protein product | 601296 |
| LRP4 | LDL receptor related protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 604270 |
| AGRN | agrin | Disease-causing germline mutation(s) in | gene with protein product | 103320 |
| AK9 | adenylate kinase 9 | Disease-causing germline mutation(s) in | gene with protein product | 615358 |
| COL13A1 | collagen type XIII alpha 1 chain | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 120350 |
Фенотипы (HPO)37
Частый (30–79%)21
HP:0001324Muscle weakness
HP:0000218High palate
HP:0000496Abnormality of eye movement
HP:0000508Ptosis
HP:0000597Ophthalmoparesis
HP:0001315Reduced tendon reflexes
HP:0001446Abnormality of the musculature of the upper limbs
HP:0003202Skeletal muscle atrophy
HP:0003388Easy fatigability
HP:0003402Decreased miniature endplate potentials
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003443Decreased size of nerve terminals
HP:0003458EMG: myopathic abnormalities
HP:0003484Upper limb muscle weakness
HP:0003547Shoulder girdle muscle weakness
HP:0003722Neck flexor weakness
HP:0003803Type 1 muscle fiber predominance
HP:0009005Weakness of the intrinsic hand muscles
HP:0010628Facial palsy
HP:0030199Fatigable weakness of neck muscles
HP:0410011Abnormality of masticatory muscle
Периодический (5–29%)16
HP:0000651Diplopia
HP:0000961Cyanosis
HP:0002091Restrictive ventilatory defect
HP:0002194Delayed gross motor development
HP:0002329Drowsiness
HP:0002650Scoliosis
HP:0002792Reduced vital capacity
HP:0002875Exertional dyspnea
HP:0002878Respiratory failure
HP:0005659Thoracic kyphoscoliosis
HP:0009077Weakness of long finger extensor muscles
HP:0012515Hip flexor weakness
HP:0012764Orthopnea
HP:0030196Fatigable weakness of respiratory muscles
HP:0031108Triceps weakness
HP:0031374Ankle weakness
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)