{"orpha":589830,"name":"Adult-onset Steinert myotonic dystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Adult-onset Steinert disease","Adult-onset myotonic dystrophy type 1"],"definition":null,"note":"This disease is described under Steinert myotonic dystrophy","url":"https://raremap.alftech.space/d/ORPHA-589830/","orphanet_url":"https://www.orpha.net/en/disease/detail/589830","names":{"fr":{"name":"Dystrophie myotonique de Steinert de l'adulte","synonyms":["Dystrophie myotonique de type 1 de l'adulte","Maladie de Steinert de l'adulte"]},"de":{"name":"Myotone Dystrophie Steinert mit Beginn im Erwachsenenalter","synonyms":["Myotone Dystrophie Typ 1 des Erwachsenen","Steinert-Krankheit, adulte"]},"es":{"name":"Distrofia miotónica de Steinert de inicio en el adulto","synonyms":["Distrofia miotónica tipo 1 de inicio en el adulto","Enfermedad de Steinert de inicio en el adulto"]},"it":{"name":"Distrofia miotonica di Steinert ad esordio nell'età adulta","synonyms":["Distrofia miotonica tipo 1 ad esordio nell'età adulta","Malattia di Steinert ad esordio nell'età adulta"]},"nl":{"name":"Myotone dystrofie van Steinert met aanvang op volwassen leeftijd","synonyms":["Myotone dystrofie type 1 met aanvang op volwassen leeftijd","Ziekte van Steinert met aanvang op volwassen leeftijd","Ziekte van Steinert, volwassen vorm"]},"pt":{"name":"Distrofia miotónica de Steinert de início no adulto"},"pl":{"name":"Dystrofia miotoniczna Steinerta wieku dorosłego","synonyms":["Dystrofia miotoniczna wieku dorosłego typ 1"]},"cs":{"name":"Steinertova myotonická dystrofie s nástupem v dospělosti","synonyms":["Adult-onset Steinert disease","Adult-onset myotonic dystrophy type 1"]},"uk":{"name":"Доросла міотонічна дистрофія Штейнерта","synonyms":["Міотонічна дистрофія 1-го типу, що починається у дорослих","Хвороба Штейнерта у дорослих"]},"zh":{"name":"Adult-onset Steinert myotonic dystrophy","synonyms":["Adult-onset Steinert disease","Adult-onset myotonic dystrophy type 1"]},"tr":{"name":"Adult-onset Steinert myotonic dystrophy","synonyms":["Adult-onset Steinert disease","Adult-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":"attributed","validated":true},{"source":"MONDO","code":"0035649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680309","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":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.54,"area":"Italy","status":"Validated","source":"26882032[PMID]"}],"phenotypes":null}