{"orpha":353327,"name":"Congenital myasthenic syndrome with glycosylation defect","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-353327/","orphanet_url":"https://www.orpha.net/en/disease/detail/353327","names":{"fr":{"name":"Syndrome myasthénique congénital par défaut de glycosylation"},"de":{"name":"Kongenitales myasthenes Syndrom mit Glykosylierungsstörung"},"es":{"name":"Síndrome miasténico congénito con defectos de la glicosilación"},"it":{"name":"Sindrome miastenica congenita con disturbo della glicosilazione"},"nl":{"name":"Congenitaal myastheen syndroom met defect van glycosylering","synonyms":["CMS met defect van glycosylering"]},"pt":{"name":"Síndromes miasténicas congénitas com defeitos da glicosilação"},"pl":{"name":"Wrodzone zespoły miasteniczne z defektem glikolyzacji"},"cs":{"name":"Vrozené myastenické syndromy s poruchou glykosylace"},"uk":{"name":"Вроджені міастенічні синдроми з дефектом глікозилювання"},"zh":{"name":"先天性肌无力综合征伴糖基化缺陷"},"tr":{"name":"Glikozilasyon defekti ile seyreden doğumsal miyastenik sendromlar"}},"xrefs":[{"source":"OMIM","code":"610542","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616227","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616228","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":"index","validated":true,"icd11_uri":"1600121647"},{"source":"UMLS","code":"C5680989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":716913,"name":"Congenital myasthenic syndrome associated with ubiquitously expressed proteins","classifications":[147,156,181,189]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ALG14","name":"ALG14 UDP-N-acetylglucosaminyltransferase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23404334[PMID]","hgnc":"28287","ensembl":"ENSG00000172339","omim":"612866","loci":["1p21.3"]},{"symbol":"ALG2","name":"ALG2 alpha-1,3/1,6-mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23404334[PMID]","hgnc":"23159","ensembl":"ENSG00000119523","omim":"607905","loci":["9q22.33"]},{"symbol":"DPAGT1","name":"dolichyl-phosphate N-acetylglucosaminephosphotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23404334[PMID]_22742743[PMID]","hgnc":"2995","ensembl":"ENSG00000172269","omim":"191350","loci":["11q23.3"]},{"symbol":"GFPT1","name":"glutamine--fructose-6-phosphate transaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23404334[PMID]_21310273[PMID]","hgnc":"4241","ensembl":"ENSG00000198380","omim":"138292","loci":["2p13.3"]},{"symbol":"GMPPB","name":"GDP-mannose pyrophosphorylase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26133662[PMID]","hgnc":"22932","ensembl":"ENSG00000173540","omim":"615320","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-08","source":"8664562[PMID]_12467753[PMID]_16917026[PMID]_22742743[PMID]_23404334[PMID]_24461433[PMID]","terms":[{"hpo":"HP:0030191","label":"Abnormal peripheral nervous system synaptic transmission","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030202","label":"Favorable response of weakness to acetylcholine esterase inhibitors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030205","label":"Increased jitter at single fibre EMG","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100301","label":"Muscle fiber tubular inclusions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009028","label":"Generalized weakness of limb muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very rare (<4-1%)","criteria":null}]}}