{"orpha":98863,"name":"X-linked Emery-Dreifuss muscular dystrophy","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Emery-Dreifuss muscular dystrophy","url":"https://raremap.alftech.space/d/ORPHA-98863/","orphanet_url":"https://www.orpha.net/en/disease/detail/98863","names":{"fr":{"name":"Dystrophie musculaire d'Emery-Dreifuss liée à l'X"},"de":{"name":"Emery-Dreifuss Muskeldystrophie, X-chromosomale","synonyms":["EDMD1"]},"es":{"name":"Distrofia muscular de Emery-Dreifuss ligada al cromosoma X"},"it":{"name":"Distrofia muscolare di Emery-Dreifuss legata all'X","synonyms":["EDMD1"]},"nl":{"name":"X-gebonden musculaire dystrofie van Emery-Dreifuss","synonyms":["EDMD1","X-gebonden spierdystrofie van Emery-Dreifuss"]},"pt":{"name":"Distrofia muscular de Emery-Dreifuss ligada ao X","synonyms":["EDMD1"]},"pl":{"name":"Dystrofia mięśniowa Emery'ego i Dreifussa sprzężona z chromosomem X","synonyms":["EDMD1"]},"cs":{"name":"X-vázaná Emeryho-Dreifussova svalová dystrofie","synonyms":["EDMD1","Emerinopatie","X-vázaná Emery-Dreifussova svalová dystrofie"]},"uk":{"name":"Х-зчеплена мязова дистрофія Емері-Дрейфуса"},"zh":{"name":"X-染色体连锁遗传Emery-Dreifuss肌营养不良"},"tr":{"name":"X'e bağlı Emery-Dreifuss kas distrofisi"}},"xrefs":[{"source":"OMIM","code":"300696","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"310300","qualifier":"E","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":"516501338"},{"source":"MONDO","code":"0010680","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000083143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751337","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":261,"name":"Emery-Dreifuss muscular dystrophy","classifications":[146,156,181,233]},{"orpha":209188,"name":"Qualitative or quantitative defects of emerin","classifications":[156]}],"children":[],"genes":[{"symbol":"EMD","name":"emerin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3331","ensembl":"ENSG00000102119","omim":"300384","loci":["Xq28"]},{"symbol":"FHL1","name":"four and a half LIM domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3702","ensembl":"ENSG00000022267","omim":"300163","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"20301609[PMID]_Association Française contre les Myopathies[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"20301609[PMID]_Association Française contre les Myopathies[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-18","source":"17620497[PMID]_19716112[PMID]_20186852[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[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: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 (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008956","label":"Proximal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008948","label":"Proximal upper limb amyotrophy","frequency":"Frequent (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:0000470","label":"Short neck","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:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","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: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}]}}