{"orpha":257,"name":"Epidermolysis bullosa simplex with muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS with muscular dystrophy","EBS-MD","Limb-girdle muscular dystrophy with epidermolysis bullosa simplex"],"definition":"A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-257/","orphanet_url":"https://www.orpha.net/en/disease/detail/257","names":{"fr":{"name":"Epidermolyse bulleuse simple avec dystrophie musculaire","synonyms":["Dystrophie musculaire des ceintures associée à une épidermolyse bulleuse","EBS avec dystrophie musculaire","EBS-MD"],"definition":"Forme d'épidermolyse bulleuse simplex (EBS) caractérisée par la formation généralisée de vésicules associée à une dystrophie musculaire."},"de":{"name":"Epidermolysis bullosa simplex mit Muskeldystrophie","synonyms":["EBS-MD","Gliedergürtelmuskeldystrophie mit Epidermolysis bullosa simplex"],"definition":"Eine Form der Epidermolysis bullosa simplex (EBS), die durch eine generalisierte Blasenbildung in Verbindung mit Muskeldystrophie gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa simple con distrofia muscular","synonyms":["Distrofia muscular de cinturas con epidermólisis ampollosa simple","EBS con distrofia muscular","Epidermólisis bullosa simple con distrofia muscular"],"definition":"Es una forma de epidermólisis ampollosa simple (EAS) caracterizada por ampollas generalizadas asociadas a distrofia muscular."},"it":{"name":"Epidermolisi bollosa semplice con distrofia muscolare","synonyms":["Distrofia dei cingoli con epidermolisi bollosa semplice","EBS con distrofia muscolare","EBS-MD"],"definition":"Si tratta di una forma di epidermolisi bollosa semplice (EBS), caratterizzata da vesciche generalizzate associate alla distrofia muscolare."},"nl":{"name":"Epidermolysis bullosa simplex met spierdystrofie","synonyms":["EBS met spierdystrofie","EBS-MD","Limb-girdle-spierdystrofie met epidermolysis bullosa simplex"],"definition":"Een vorm van epidermolysis bullosa simplex (EBS), gekenmerkt door gegeneraliseerde blaarvorming geassocieerd met spierdystrofie."},"pt":{"name":"Epidermólise bolhosa simples com distrofia muscular","synonyms":["Distrofia muscular das cinturas com epidermólise bolhosa simples","EBS-MD"],"definition":"Uma forma de epidermólise bolhosa simples (EBS) caracterizada por vesículas generalizadas associadas à distrofia muscular."},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka z dystrofią mięśniową","synonyms":["Dystrofia obręczowo-kończynowa z prostą postacią pęcherzowego oddzielania się naskórka"]},"cs":{"name":"Epidermolysis bullosa simplex se svalovou dystrofií","synonyms":["EBS-MD","Pletencová svalová dystrofie s epidermolysis bullosa simplex"]},"uk":{"name":"Простий бульозний епідермоліз з мязовою дистрофією","synonyms":["EBS з мязовою дистрофією","EBS-MD","Дистрофія мязів поясу кінцівок з простим бульозним епідермолізом"],"definition":"A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy."},"zh":{"name":"单纯性大疱性表皮松解症伴肌肉萎缩","synonyms":["肢带肌营养不良伴单纯大疱性表皮松解症"]},"tr":{"name":"Kas distrofisi ile seyreden epidermolizis bülloza simpleks","synonyms":["EBS-MD","Epidermoliz bülloza simpleks ile seyreden ekstremite kavşak tip kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"226670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1570061817"},{"source":"MONDO","code":"0009181","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931072","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2137","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","classifications":[156,187]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":209196,"name":"Qualitative or quantitative defects of plectin","classifications":[156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]},{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"PLEC","name":"plectin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20052759[PMID]","hgnc":"9069","ensembl":"ENSG00000178209","omim":"601282","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-26","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null}]}}