{"orpha":79396,"name":"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant generalized EBS, severe form","Epidermolysis bullosa simplex herpetiformis","Epidermolysis bullosa simplex, Dowling-Meara type"],"definition":"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79396/","orphanet_url":"https://www.orpha.net/en/disease/detail/79396","names":{"fr":{"name":"Epidermolyse bulleuse simple généralisée autosomique dominante, forme sévère","synonyms":["EBS généralisée autosomique dominante, forme sévère","Epidermolyse bulleuse simple herpétiforme","Epidermolyse bulleuse simple type Dowling-Meara"],"definition":"L'épidermolyse bulleuse simple type Dowling-Meara (EBS-DM) est un sous-type basal d'épidermolyse bulleuse simple (EBS) caractérisé par la présence de vésicules généralisées et de petites bulles en configuration regroupé ou arquée."},"de":{"name":"Epidermolysis bullosa simplex, generalisierte schwere","synonyms":["EBS, generalisierte schwere","Epidermolysis bullosa simplex Typ Dowling-Meara","Epidermolysis bullosa simplex herpetiformis"],"definition":"Die Epidermolysis bullosa simplex, Typ Dowling-Meara (EBS-DM) ist der basale Subtyp der Epidermolysis bullosa simplex (EBS; s. dort) und gekennzeichnet durch generalisierte Bläschen und bogenförmig oder in Gruppen angeordnete kleine Blasen."},"es":{"name":"Epidermólisis ampollosa simple generalizada grave autosómica dominante","synonyms":["EBS generalizada grave autosómica dominante","Epidermólisis ampollosa simple herpetiforme","Epidermólisis ampollosa simple tipo Dowling-Meara","Epidermólisis bullosa simple generalizada grave autosómica dominante"],"definition":"La epidermólisis ampollar simple, tipo Dowling-Meara (EBS-DM) es un subtipo basal de epidermólisis bullosa simple (EBS, consulte este término) caracterizada por la presencia de vesículas generalizadas y de pequeñas ampollas agrupadas o en configuración arqueada."},"it":{"name":"Epidermolisi bollosa semplice autosomica dominante generalizzata, forma grave","synonyms":["EBS autosomica dominante generalizzata, forma grave","Epidermolisi bollosa semplice erpetiforme","Epidermolisi bollosa semplice, tipo Dowling-Meara"],"definition":"L'epidermolisi bollosa semplice tipo Dowling-Meara (EBS-DM) è un sottotipo basale dell'epidermolisi bollosa semplice (EBS, si veda questo termine), caratterizzato dalla presenza di bolle generalizzate e piccole cicatrici localizzate in gruppi o con un aspetto arcuato."},"nl":{"name":"Autosomaal dominante gegeneraliseerde epidermolysis bullosa simplex, ernstige vorm","synonyms":["Autosomaal dominante gegeneraliseerde EBS, ernstige vorm","Epidermolysis bullosa simplex herpetiformis","Epidermolysis bullosa simplex, Dowling-Meara-type"],"definition":"Epidermolysis bullosa simplex, Dowling-Meara-type (EBS-DM) is een basaal subtype van epidermolysis bullosa simplex (EBS, zie deze term) gekenmerkt door de aanwezigheid van gegeneraliseerde blaasjes en kleine blaren in gegroepeerde of boogvormige configuratie."},"pt":{"name":"Epidermólise bolhosa generalizada simples autossómica dominante, forma grave","synonyms":["Epidermólise bolhosa simples herpetiforme","Epidermólise bolhosa simples, tipo Dowling-Meara"],"definition":"A epidermólise bolhosa simples, tipo Dowling-Meara (EBS-DM) é um subtipo basal de epidermólise bolhosa simples (EBS, ver este termo), caracterizada pela presença de vesículas generalizadas e pequenas bolhas agrupadas ou em configuração arqueada."},"pl":{"name":"Postać prosta uogólniona pęcherzowego oddzielania się naskórka autosomalna dominująca, forma ciężka","synonyms":["Autosomal dominant generalized EBS, severe form","Epidermolysis bullosa simplex herpetiformis","Epidermolysis bullosa simplex, Dowling-Meara type"]},"cs":{"name":"Epidermolysis bullosa simplex, Dowlingův-Mearův typ","synonyms":["Epidermolysis bullosa simplex, herpetiformis","Epidermolysis bullosa simplex, Dowling-Mearův typ"]},"uk":{"name":"Аутосомно-домінантний генералізований бульозний епідермоліз, тяжка форма","synonyms":["Аутосомно-домінантний генералізований БЕС, важка форма","Простий герпетиформний бульозний епідермоліз","Простий бульозний епідермоліз, тип Даулінга-Міара"],"definition":"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration."},"zh":{"name":"单纯性大疱性表皮松解症，重度全身型","synonyms":["单纯型大疱性表皮松解症，Dowling-Meara型"]},"tr":{"name":"Epidermolizis bülloza simpleks, ağır jeneralize","synonyms":["EBS, jeneralize ağır","Epidermolizis bülloza simpleks, herpetiformis","Epidermolizis bülloza simpleks, Dowling-Meara tipi"]}},"xrefs":[{"source":"OMIM","code":"131760","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619555","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":"1908011031"},{"source":"UMLS","code":"C0079295","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2141","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"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-12","source":"20301543[PMID]_31772641[PMID]_30515866[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007589","label":"Aplasia cutis congenita on trunk or limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007599","label":"Generalized reticulate brown pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005483","label":"Abnormal epiglottis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002780","label":"Bronchomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006934","label":"Congenital nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010298","label":"Smooth tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Very rare (<4-1%)","criteria":null}]}}