{"orpha":98915,"name":"Synaptic congenital myasthenic syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Congenital myasthenic syndrome","url":"https://raremap.alftech.space/d/ORPHA-98915/","orphanet_url":"https://www.orpha.net/en/disease/detail/98915","names":{"fr":{"name":"Syndrome myasthénique congénital synaptique"},"de":{"name":"Synaptisches kongenitales myasthenes Syndrom"},"es":{"name":"Síndrome miasténico congénito sináptico"},"it":{"name":"Sindrome miastenica congenita sinaptica"},"nl":{"name":"Synaptisch congenitaal myastheen syndroom","synonyms":["Synaptisch CMS"]},"pt":{"name":"Síndromes miasténicos, congénitos, sinápticos"},"pl":{"name":"Wrodzone synaptyczne zespoły miasteniczne"},"cs":{"name":"Synaptické vrozené myastenické syndromy"},"uk":{"name":"Синаптичні вроджені міастенічні синдроми"},"zh":{"name":"突触性先天性肌无力综合征"},"tr":{"name":"Sinaptik doğumsal miyastenik sendromlar"}},"xrefs":[{"source":"OMIM","code":"603034","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C61","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"UMLS","code":"C5681640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":590,"name":"Congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"COL13A1","name":"collagen type XIII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26626625[PMID]","hgnc":"2190","ensembl":"ENSG00000197467","omim":"120350","loci":["10q22.1"]},{"symbol":"COLQ","name":"collagen like tail subunit of asymmetric acetylcholinesterase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301347[PMID]","hgnc":"2226","ensembl":"ENSG00000206561","omim":"603033","loci":["3p25.1"]},{"symbol":"LAMB2","name":"laminin subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19251977[PMID]_25792100[PMID]","hgnc":"6487","ensembl":"ENSG00000172037","omim":"150325","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-01","source":"18180250[PMID]_9758617[PMID]_8390325[PMID]","terms":[{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003398","label":"Abnormal synaptic transmission at the neuromuscular junction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003443","label":"Decreased size of nerve terminals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003436","label":"Prolonged miniature endplate currents","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030203","label":"Unfavorable response of muscle weakness to acetylcholine esterase inhibitors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007941","label":"Limited extraocular movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030211","label":"Slow pupillary light response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006251","label":"Limited wrist extension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000207","label":"Triangular mouth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003554","label":"Type 2 muscle fiber atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}