{"orpha":79401,"name":"PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PLEC-related intermediate EBS without extracutaneous involvement"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79401/","orphanet_url":"https://www.orpha.net/en/disease/detail/79401","names":{"fr":{"name":"Epidermolyse bulleuse simple intermédiaire sans manifestations extracutanées associée à PLEC","synonyms":["EBS intermédiaire sans manifestations extracutanées associée à PLEC"],"definition":"Épidermolyse bulleuse simple rare et héréditaire caractérisée par la présence de bulles, principalement acrales, apparaissant généralement à la naissance. Les patients développent facilement des ecchymoses, présentent des bulles hémorragiques et une onychogryphose."},"de":{"name":"PLEC-assoziierte intermediäre Epidermolysis bullosa simplex ohne extrakutane Beteiligung","synonyms":["EBS-O"],"definition":"Eine seltene hereditäre Form der Epidermolysis bullosa simplex, die durch eine primär akrale Blasenbildung gekennzeichnet ist und typischerweise bei der Geburt beginnt. Die Patienten weisen Hämatome ohne adäquate Traumata, hämorrhagische Blasenbildung und Onychogryphose auf."},"es":{"name":"Epidermólisis ampollosa simple intermedia sin afectación extracutánea asociada a PLEC","synonyms":["EBS intermedia sin afectación extracutánea asociada a PLEC"],"definition":"Es una forma hereditaria y poco frecuente de epidermólisis ampollosa simple que se caracteriza por la formación de ampollas principalmente acrales que suelen aparecer al nacimiento. Los pacientes desarrollan con facilidad hematomas, ampollas hemorrágicas y presentan onicogrifosis."},"it":{"name":"Epidermolisi bollosa semplice intermedia correlata a PLEC in assenza di un coinvolgimento extracutaneo","synonyms":["EBS intermedia correlata a PLEC senza coinvolgimento extracutaneo"],"definition":"Si tratta di un'epidermolisi bollosa semplice rara ed ereditaria, caratterizzata da vesciche prevalentemente acrali, di solito congenite. I pazienti presentano tendenza alle ecchimosi, vesciche emorragiche e onicogrifosi."},"nl":{"name":"PLEC-gerelateerde intermediaire epidermolysis bullosa simplex zonder extracutane betrokkenheid","synonyms":["PLEC-gerelateerde intermediaire EBS zonder extracutane betrokkenheid"],"definition":"Een zeldzame erfelijke epidermolysis bullosa simplex, gekenmerkt door hoofdzakelijk acrale blaarvorming die doorgaans optreedt bij de geboorte. Patiënten vertonen vatbaarheid voor kneuzing, hemorragische blaarvorming, en onychogryfose."},"pt":{"name":"Epidermólise bolhosa simples intermédia PLEC-relacionada sem envolvimento extracutâneo","synonyms":["EBS-O"],"definition":"Epidermólise bolhosa simplex rara, hereditária, caracterizada principalmente por bolhas acrais cujo início ocorre habitualmente ao nascimento. Os doentes apresentam hematomas sem evidente factor predisponente, formação de bolhas hemorrágicas e onicogrifose."},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka pośrednia bez zajęcia skóry zwiazana z PLEC","synonyms":["PLEC-related intermediate EBS without extracutaneous involvement"]},"cs":{"name":"Epidermolysis bullosa simplex, typ Ogna","synonyms":["EBS-O"]},"uk":{"name":"PLEC-асоційований помірний простий бульозний епідермоліз, без позашкірного ураження","synonyms":["Проміжна БЕС, повязана з PLEC, без позашкірного втручання"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis."},"zh":{"name":"单纯型大疱性表皮松解症，Ogna型","synonyms":["PLEC-related intermediate EBS without extracutaneous involvement"]},"tr":{"name":"Epidermolizis bülloza simpleks, Ogna tipi","synonyms":["EBS-O"]}},"xrefs":[{"source":"OMIM","code":"131950","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":"1396318836"},{"source":"MONDO","code":"0007555","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535962","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432317","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"PLEC","name":"plectin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11851880[PMID]","hgnc":"9069","ensembl":"ENSG00000178209","omim":"601282","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"22854623[PMID]_23774525[PMID]"},{"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":"2021-03-19","source":"11851880[PMID]_22854623[PMID]_25530118[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031045","label":"Acral blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020073","label":"Hypopigmented macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002012","label":"Abnormality of the abdominal organs","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Excluded (0%)","criteria":null}]}}