{"orpha":158687,"name":"Lethal acantholytic erosive disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158687/","orphanet_url":"https://www.orpha.net/en/disease/detail/158687","names":{"fr":{"name":"Maladie érosive acantholytique létale","definition":"L'épidermolyse bulleuse létale acantholytique est un sous-type d'épidermolyse bulleuse simple suprabasal (EBS) caractérisé par des érosions suintantes, généralement en l'absence de bulles."},"de":{"name":"Epidermolysis bullosa, akantholytische letale","synonyms":["LAEB"],"definition":"Die letale akantholytische Epidermolysis bullosa, ein suprabasaler Subtyp der Epidermolysis bullosa simplex (EBS; s. dort), ist gekennzeichnet durch nässende Erosionen und in der Regel fehlende Blasenbildung."},"es":{"name":"Trastorno erosivo acantolítico letal","definition":"La epidermólisis ampollar acantolítica letal es un subtipo suprabasal de epidermólisis bullosa simple (EBS, consulte este término) caracterizada por erosiones exudativas generalizadas, por lo habitual con ausencia de ampollas."},"it":{"name":"Malattia erosiva acantolitica letale","synonyms":["LAEB"],"definition":"L'epidermolisi bollosa acantolitica letale è un sottotipo soprabasale dell'epidermolisi bollosa semplice (EBS; si veda questo termine) caratterizzato da erosioni generalizzate a nappo, di solito senza formazione di bolle."},"nl":{"name":"Letale acantholytische erosieve aandoening","definition":"Letale acantholytische epidermolysis bullosa is een suprabasaal subtype van epidermolysis bullosa simplex (EBS, zie deze term) gekenmerkt door gegeneraliseerde vochtafscheidende erosies, gewoonlijk zonder blaarvorming."},"pt":{"name":"Doença erosiva acantolítica fatal","synonyms":["LAEB"],"definition":"A epidermólise bolhosa acantolítica letal é um subtipo suprabasal de epidermólise bolhosa simples (EBS, consulte este termo), caracterizada por erosões exsudativas generalizadas, geralmente na ausência de bolhas."},"pl":{"name":"Zaburzenie nadżerkowe akantolityczne letalne"},"cs":{"name":"Letální akantolytická epidermolysis bullosa","synonyms":["LAEB"]},"uk":{"name":"Летальний акантолітичний ерозивний розлад","definition":"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters."},"zh":{"name":"大疱性皮肤松解，致死性皮肤棘层松解","definition":"致死性棘层松解性大疱性表皮松解症是单纯性大疱性表皮松解症(EBS，见该词条)的一种基底上层亚型，其特征是全身性渗出性糜烂，通常无水泡。"},"tr":{"name":"Letal akantolitik epidermolizis bülloza","synonyms":["LAEB"]}},"xrefs":[{"source":"OMIM","code":"609638","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":"2082436712"},{"source":"MONDO","code":"0012323","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535493","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864826","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16175511[PMID]_20302578[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]},{"symbol":"JUP","name":"junction plakoglobin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21320868[PMID]","hgnc":"6207","ensembl":"ENSG00000173801","omim":"173325","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20613772[PMID]_20302578[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20613772[PMID]_20302578[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-12","source":"20302578[PMID]_19945626[PMID]_28442525[PMID]_24738885[PMID]","terms":[{"hpo":"HP:0032449","label":"Abnormal dermoepidermal hemidesmosome morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031538","label":"Abnormal dermoepidermal junction morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002298","label":"Absent hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005597","label":"Congenital alopecia totalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031274","label":"Hypovolemic shock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001233","label":"2-3 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006097","label":"3-4 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010705","label":"4-5 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001836","label":"Camptodactyly of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006670","label":"Impaired myocardial contractility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null}]}}