{"orpha":589821,"name":"Congenital-onset Steinert myotonic dystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"],"definition":null,"note":"This disease is described under Steinert myotonic dystrophy","url":"https://raremap.alftech.space/d/ORPHA-589821/","orphanet_url":"https://www.orpha.net/en/disease/detail/589821","names":{"fr":{"name":"Dystrophie myotonique de Steinert, forme congénitale","synonyms":["Dystrophie myotonique de type 1, forme congénitale","Maladie de Steinert, forme congénitale"]},"de":{"name":"Myotone Dystrophie Steinert, kongenitale Form","synonyms":["Steinert-Krankheit, kongenitale","Myotone Dystrophie Typ 1, kongenitale Form"]},"es":{"name":"Distrofia miotónica de Steinert de inicio congénito","synonyms":["Distrofia miotónica tipo 1 de inicio congénito","Enfermedad de Steinert de inicio congénito"]},"it":{"name":"Distrofia miotonica congenita di Steinert","synonyms":["Distrofia miotonica congenita tipo 1","Malattia congenita di Steinert"]},"nl":{"name":"Myotone dystrofie van Steinert met congenitale aanvang","synonyms":["Myotone dystrofie type 1 met congenitale aanvang","Ziekte van Steinert met congenitale aanvang"]},"pt":{"name":"Distrofia miotónica de Steinert de início congénito"},"pl":{"name":"Wrodzona dystrofia miotoniczna Steinerta","synonyms":["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"]},"cs":{"name":"Vrozená Steinertova myotonická dystrofie","synonyms":["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"]},"uk":{"name":"Вроджена міотонічна дистрофія Штейнерта","synonyms":["Вроджена міотонічна дистрофія 1-го типу","Вроджена хвороба Штейнерта"]},"zh":{"name":"Congenital-onset Steinert myotonic dystrophy","synonyms":["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"]},"tr":{"name":"Congenital-onset Steinert myotonic dystrophy","synonyms":["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"]}},"xrefs":[{"source":"OMIM","code":"160900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C71.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"599230687"},{"source":"MONDO","code":"0035646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680305","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":273,"name":"Steinert myotonic dystrophy","classifications":[146,147,156,181,189,233]}],"children":[],"genes":[{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Canada","status":"Validated","source":"23415617[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.94,"area":"Italy","status":"Validated","source":"26882032[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":47.6,"area":"United States","status":"Validated","source":"33472919[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-13","source":"30659139[PMID]_31520483[PMID]_34655747[PMID]","terms":[{"hpo":"HP:0031843","label":"Bradyphrenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011705","label":"First degree atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040183","label":"Encopresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very rare (<4-1%)","criteria":null}]}}