Presynaptic congenital myasthenic syndromes
ORPHA:98914Etiological subtypeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CHAT | choline O-acetyltransferase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 118490 |
| AGRN | agrin | Disease-causing germline mutation(s) in | gene with protein product | 103320 |
| SLC25A1 | solute carrier family 25 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 190315 |
| SNAP25 | synaptosome associated protein 25 | Disease-causing germline mutation(s) in | gene with protein product | 600322 |
| SYT2 | synaptotagmin 2 | Disease-causing germline mutation(s) in | gene with protein product | 600104 |
| MYO9A | myosin IXA | Disease-causing germline mutation(s) in | gene with protein product | 604875 |
| SLC5A7 | solute carrier family 5 member 7 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 608761 |
| VAMP1 | vesicle associated membrane protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 185880 |
| SLC18A3 | solute carrier family 18 member A3 | Disease-causing germline mutation(s) in | gene with protein product | 600336 |
| COL13A1 | collagen type XIII alpha 1 chain | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 120350 |
Фенотипы (HPO)68
Очень частый (80–99%)10
HP:0000467Neck muscle weakness
HP:0000508Ptosis
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002882Sudden episodic apnea
HP:0003473Fatigable weakness
HP:0003701Proximal muscle weakness
HP:0004661Frontalis muscle weakness
HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0011968Feeding difficulties
Частый (30–79%)20
HP:0001288Gait disturbance
HP:0000602Ophthalmoplegia
HP:0000961Cyanosis
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001283Bulbar palsy
HP:0001558Decreased fetal movement
HP:0001611Hypernasal speech
HP:0002205Recurrent respiratory infections
HP:0002804Arthrogryposis multiplex congenita
HP:0002872Apneic episodes precipitated by illness, fatigue, stress
HP:0003324Generalized muscle weakness
HP:0003388Easy fatigability
HP:0004885Episodic respiratory distress
HP:0008443Spinal deformities
HP:0010536Central sleep apnea
HP:0011469Nasal regurgitation
HP:0030842Choking episodes
HP:0100285EMG: impaired neuromuscular transmission
HP:0100295Muscle fiber atrophy
Периодический (5–29%)20
HP:0000218High palate
HP:0000276Long face
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001612Weak cry
HP:0001618Dysphonia
HP:0001761Pes cavus
HP:0002421Poor head control
HP:0002515Waddling gait
HP:0002751Kyphoscoliosis
HP:0003306Spinal rigidity
HP:0003325Limb-girdle muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0003693Distal amyotrophy
HP:0009053Distal lower limb muscle weakness
HP:0010307Stridor
HP:0012801Narrow jaw
HP:0030051Tip-toe gait
Очень редкий (1–4%)17
HP:0001382Joint hypermobility
HP:0000308Microretrognathia
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0000651Diplopia
HP:0000768Pectus carinatum
HP:0001265Hyporeflexia
HP:0001374Congenital hip dislocation
HP:0001561Polyhydramnios
HP:0002020Gastroesophageal reflux
HP:0002392EEG with polyspike wave complexes
HP:0002870Obstructive sleep apnea
HP:0005943Respiratory arrest
HP:0007178Motor polyneuropathy
HP:0025401Staring gaze
Исключён (0%)1
HP:0030208Acetylcholine receptor antibody positivity
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)