{"orpha":158668,"name":"Ectodermal dysplasia-skin fragility syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["McGrath syndrome"],"definition":"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158668/","orphanet_url":"https://www.orpha.net/en/disease/detail/158668","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-fragilité cutanée","synonyms":["Syndrome de McGrath"],"definition":"L'épidermolyse bulleuse simple par déficit en plakophiline est un type suprabasal d'épidermolyse bulleuse simple (EBS) caractérisé par des érosions superficielles généralisées et moins souvent par la formation de bulles."},"de":{"name":"Ektodermale Dysplasie-Hautfragilität-Syndrom","synonyms":["McGrath-Syndrom"],"definition":"Die Epidermolysis bullosa simplex durch Plakophilin-Mangel (EBS-PD) ist ein suprabasaler Subtyp der Epidermolysis bullosa simplex (EBS; s. dort) und gekennzeichnet durch generalisierte oberflächliche Erosionen und seltener durch Blasenbildung."},"es":{"name":"Síndrome de displasia ectodérmica-fragilidad cutánea","synonyms":["Síndrome de McGrath"],"definition":"La epidermólisis ampollosa simple debida a una déficit de placofilina (EBS-PD) es un subtipo suprabasal de epidermólisis ampollosa simple (EBS, consulte este término) caracterizado por erosiones superficiales generalizadas y, menos frecuentemente, por la formacion de ampollas."},"it":{"name":"Sindrome da displasia ectodermica e fragilità cutanea","synonyms":["Sindrome di McGrath","Sindrome displasia ectodermica-fragilità cutanea"],"definition":"L'epidermolisi bollosa semplice da deficit di placofilina (EBS-PD) è un sottotipo soprabasale dell'epidermolisi bollosa semplice (EBS; si veda questo termine) caratterizzato da erosioni superficiali generalizzate e, meno comunemente, dalla formazione di bolle."},"nl":{"name":"Ectodermale dysplasie - fragiliteit van huid-syndroom","synonyms":["Syndroom van McGrath"],"definition":"Epidermolysis bullosa simplex als gevolg van plakophilinedeficiëntie (EBS-PD) is een suprabasaal subtype van epidermolysis bullosa simplex (EBS, zie deze term) gekenmerkt door gegeneraliseerde oppervlakkige erosies en minder vaak blaarvorming."},"pt":{"name":"Síndrome de displasia ectodérmica-fragilidade cutânea","synonyms":["EBS-PD","Síndrome McGrath","Síndrome de displasia ectodérmica - fragilidade cutânea"],"definition":"A epidermólise bolhosa simples devido à deficiência de placofilina (EBS-PD) é um subtipo suprabasal de epidermólise bolhosa simples (EBS, consulte este termo), caracterizada por erosões generalizadas superficiais e menos frequentemente bolhas."},"pl":{"name":"Zespół dysplazji ektodermalnej i wrażliwej skóry","synonyms":["Zespół dysplazja ektodermalna - krucha skóra","Zespół McGratha","Zespół dysplazja ektodermalna-krucha skóra"]},"cs":{"name":"Prostá bulózní epidermolýza s deficitem plakofilinu","synonyms":["Syndrom zahrnující ektodermální dysplázii a fragilní kůži","McGrathův syndrom"]},"uk":{"name":"Синдром ектодермальної дисплазії-уразливості шкіри","synonyms":["Синдром Макграта"],"definition":"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering."},"zh":{"name":"斑菲素蛋白缺乏单纯性大疱性表皮松解症","synonyms":["外胚层发育不良-皮肤脆性综合征"],"definition":"血小板亲和蛋白缺乏所致单纯性大疱性表皮松解症(EBS-PD)是单纯性大疱性表皮松解症(EBS)的一种基底上层亚型，其特征是全身性浅表糜烂，且水泡较为少见。"},"tr":{"name":"Plakofilin eksikliğine bağlı epidermolizis bülloza simpleks","synonyms":["McGrath sendromu","Ektodermal displazi-cilt kırılganlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"604536","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":"1711575115"},{"source":"MeSH","code":"C536183","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858302","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"PKP1","name":"plakophilin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19945625[PMID]","hgnc":"9023","ensembl":"ENSG00000081277","omim":"601975","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"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":"2021-03-12","source":"32248567[PMID]","terms":[{"hpo":"HP:0001030","label":"Fragile 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:0002289","label":"Alopecia universalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040181","label":"Chapped lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030809","label":"Abnormal tongue morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005218","label":"Anoperineal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null}]}}