{"orpha":79399,"name":"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant generalized EBS, intermediate form","Epidermolysis bullosa simplex, Koebner type","Epidermolysis bullosa simplex, Köbner type"],"definition":"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79399/","orphanet_url":"https://www.orpha.net/en/disease/detail/79399","names":{"fr":{"name":"Epidermolyse bulleuse simple généralisée autosomique dominante, forme intermédiaire","synonyms":["EBS généralisée autosomique dominante, forme intermédiaire","Epidermolyse bulleuse simple type Koebner","Epidermolyse bulleuse simple type Köbner"],"definition":"L'épidermolyse bulleuse simple généralisée non-Dowling-Meara, précédemment connue sous le nom d'épidermolyse bulleuse simple type Köbner est un sous-type basal généralisé d'épidermolyse bulleuse simple (EBS) caractérisé par des bulles non-herpétiformes et des érosions se formant surtout sur les zones de friction."},"de":{"name":"Epidermolysis bullosa simplex, generalisierte intermediäre, autosomal-dominante","synonyms":["Autosomal-dominante generalisierte EBS, intermediäre Form","Epidermolysis bullosa simplex, Koebner Typ","Epidermolysis bullosa simplex, Köbner Typ"],"definition":"Die Non-Dowling-Meara generalisierte Epidermolysis bullosa simplex, früher als Epidermolysis bullosa simplex Typ Köbner (EBS-K) bekannt, ist ein generalisierter basaler Subtyp der Epidermolysis bullosa simplex (EBS; s. dort) und gekennzeichnet durch nicht-herpetiforme Blasen und Erosionen, die besonders an Stellen mit Reibung auftreten."},"es":{"name":"Epidermólisis ampollosa simple generalizada intermedia autosómica dominante","synonyms":["EBS generalizada intermedia autosómica dominante","Epidermólisis ampollosa simple tipo Koebner","Epidermólisis ampollosa simple tipo Köbner","Epidermólisis bullosa simple generalizada intermedia autosómica dominante"],"definition":"La epidermólisis ampollosa simple generalizada no-Dowling-Meara, conocida anteriormente como epidermólisis ampollosa simple tipo Kobner (EAS-K) es un subtipo basal generalizado de la epidermólisis ampollosa simple (EAS, consulte este término) caracterizado por ampollas no herpetiformes y erosiones que aparecen en las zonas de fricción."},"it":{"name":"Epidermolisi bollosa semplice autosomica dominante generalizzata, forma intermedia","synonyms":["EBS autosomica dominante generalizzata, forma intermedia","Epidermolisi bollosa semplice, tipo Koebner","Epidermolisi bollosa semplice, tipo Köbner"],"definition":"epidermolisi bollosa simplex, tipo Köbner (EBS-K) è un sottotipo generalizzato di epidermolisi bollosa semplice basale (EBS, si veda questo termine), caratterizzata da bolle non erpetiformi ed erosioni che insorgono nelle regioni sedi di sfregamento."},"nl":{"name":"Autosomaal dominante gegeneraliseerde epidermolysis bullosa simplex, intermediaire vorm","synonyms":["Autosomaal dominante gegeneraliseerde EBS, intermediaire vorm","Epidermolysis bullosa simplex, Koebner-type","Epidermolysis bullosa simplex, Köbner-type"],"definition":"Niet-Dowling-Meara gegeneraliseerde epidermolysis bullosa simplex, voorheen bekend als epidermolysis bullosa simplex, Köbner-type (EBS-K) is een gegeneraliseerd basaal subtype van epidermolysis bullosa simplex (EBS, zie deze term) gekenmerkt door niet-herpetiforme blaarvorming en erosies die vooral optreden op wrijvingsplaatsen."},"pt":{"name":"Epidermólise bolhosa generalizada simples autossómica dominante, forma intermédia","synonyms":["EBS generalizada não-Dowling-Meara","Epidermólise bolhosa simples tipo Koebner","Epidermólise bolhosa simples tipo Köbner","Epidermólise bolhosa simples, tipo Köbner"],"definition":"Epidermólise bolhosa simples generalizada não Dowling-Meara, anteriormente conhecida como epidermólise bolhosa simples, tipo Köbner (EBS-K) é um subtipo basal generalizado de epidermólise bolhosa simples (EBS, consulte este termo), caracterizado por bolhas e erosões não herpetiformes que surgem nomeadamente em locais de atrito."},"pl":{"name":"Postać prosta uogólniona pęcherzowego oddzielania się naskórka autosomalna dominująca, forma pośrednia","synonyms":["Pęcherzowe oddzielanie się naskórka proste, typ Köbnera","Pęcherzowe oddzielanie się naskórka proste, typ Koebnera","Uogólnione pęcherzowe oddzielanie się naskórka proste, nie typu Dowlinga i Meara"]},"cs":{"name":"Generalizovaná epidermolysis bullosa simplex, non-Dowlingův-Mearův typ","synonyms":["Epidermolysis bullosa simplex, Koebnerův typ","Epidermolysis bullosa simplex, Köbnerův typ","Generalizovaná EBS, non-Dowlingův-Mearův typ","Generalizovaná epidermolysis bullosa simplex, non-Dowling-Mearův typ","Generalizovaná EBS, non-Dowling-Mearův typ"]},"uk":{"name":"Аутосомно-домінантний простий бульозний епідермоліз, помірно виражена форма","synonyms":["Аутосомно-домінантний генералізований БЕС, проміжна форма","Простий бульозний епідермоліз, тип Кьобнера","Простий бульозний епідермоліз, тип Кебнера"],"definition":"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction."},"zh":{"name":"单纯型大疱性表皮松解症，中间型","synonyms":["全身性单纯型大疱性表皮松解症，非Dowling-Meara型"]},"tr":{"name":"Epidermolizis bülloza simpleks, orta jeneralize","synonyms":["EBS, jeneralize orta seviye","Jeneralize EBS, Dowling olmayan Meara tipi","Epidermolizis bülloza simpleks, Köbner tipi","Epidermolizis bülloza simpleks, Koebner tipi","Jeneralize epidermolizis bülloza simpleks, Dowling olmayan Meara tipi"]}},"xrefs":[{"source":"OMIM","code":"131900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619588","qualifier":"BTNT","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":"1216728802"},{"source":"MONDO","code":"0007554","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079299","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2147","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":"KRT14","name":"keratin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301543[PMID]","hgnc":"6416","ensembl":"ENSG00000186847","omim":"148066","loci":["17q21.2"]},{"symbol":"KRT5","name":"keratin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301543[PMID]","hgnc":"6442","ensembl":"ENSG00000186081","omim":"148040","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-15","source":"28558912[PMID]_30078200[PMID]_27081501[PMID]_20301543[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003341","label":"Junctional split","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007585","label":"Skin fragility with non-scarring blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007556","label":"Plantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005590","label":"Spotty hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009719","label":"Hypomelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009123","label":"Mixed hypo- and hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very rare (<4-1%)","criteria":null}]}}