{"orpha":98853,"name":"Autosomal dominant Emery-Dreifuss muscular dystrophy","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["EDMD2"],"definition":null,"note":"This disease is described under Emery-Dreifuss muscular dystrophy","url":"https://raremap.alftech.space/d/ORPHA-98853/","orphanet_url":"https://www.orpha.net/en/disease/detail/98853","names":{"fr":{"name":"Dystrophie musculaire d'Emery-Dreifuss autosomique dominante","synonyms":["DMED2","EDMD2"]},"de":{"name":"Emery-Dreifuss Muskeldystrophie, autosomal-dominante","synonyms":["EDMD2"]},"es":{"name":"Distrofia muscular de Emery-Dreifuss autosómica dominante","synonyms":["EDMD2"]},"it":{"name":"Distrofia muscolare di Emery-Dreifuss, autosomica dominante","synonyms":["EDMD2"]},"nl":{"name":"Autosomaal dominante spierdystrofie van Emery-Dreifuss","synonyms":["EDMD2"]},"pt":{"name":"Distrofia muscular de Emery-Dreifuss autossómica dominante","synonyms":["EDMD2"]},"pl":{"name":"Autosomalna dominująca dystrofia mięśniowa Emery'ego i Dreifussa","synonyms":["EDMD2"]},"cs":{"name":"Autozomálně dominantní Emery-Dreifussova svalová dystrofie","synonyms":["EDMD2"]},"uk":{"name":"Аутосомно-домінантна мязова дистрофія Емері-Дрейфуса","synonyms":["EDMD2"]},"zh":{"name":"常染色体显性遗传Emery-Dreifuss肌营养不良症","synonyms":["EDMD2"]},"tr":{"name":"Otozomal dominant Emery-Dreifuss kas distrofisi","synonyms":["EDMD2"]}},"xrefs":[{"source":"OMIM","code":"181350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612998","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612999","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614302","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"15480497"},{"source":"MONDO","code":"0020336","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410190","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":264,"name":"Autosomal dominant limb-girdle muscular dystrophy type 1B","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":261,"name":"Emery-Dreifuss muscular dystrophy","classifications":[146,156,181,233]},{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]},{"symbol":"SYNE1","name":"spectrin repeat containing nuclear envelope protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":null,"hgnc":"17089","ensembl":"ENSG00000131018","omim":"608441","loci":["6q25.2"]},{"symbol":"SYNE2","name":"spectrin repeat containing nuclear envelope protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":null,"hgnc":"17084","ensembl":"ENSG00000054654","omim":"608442","loci":["14q23.2"]},{"symbol":"TMEM43","name":"transmembrane protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21391237[PMID]","hgnc":"28472","ensembl":"ENSG00000170876","omim":"612048","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-18","source":"5969090[PMID]_10838246[PMID]_10377322[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[PMID]_19716112[PMID]_21391237[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030117","label":"Absent muscle fiber emerin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004631","label":"Decreased cervical spine flexion due to contractures of posterior cervical muscles","frequency":"Frequent 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(79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011807","label":"Type 1 muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005155","label":"Ventricular escape rhythm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}