{"orpha":312,"name":"Autosomal dominant epidermolytic ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BCIE","Bullous congenital ichthyosiform erythroderma","Bullous congenital ichthyosiform erythroderma of Brock","Bullous ichthyosis","EHK","EI","Epidermolytic hyperkeratosis","Ichthyosis hystrix Brocq type"],"definition":"A rare keratinopathic ichthyosis (KPI) characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-312/","orphanet_url":"https://www.orpha.net/en/disease/detail/312","names":{"fr":{"name":"Ichtyose épidermolytique autosomique dominante","synonyms":["BCIE","ECIB","EHK","EI","Erythrodermie congénitale ichtyosiforme bulleuse","Erythrodermie congénitale ichtyosiforme bulleuse de Brock","Hyperkératose épidermolytique"],"definition":"Ichtyose kératinopathique rare caractérisée par un phénotype vésiculeux à la naissance qui évolue progressivement vers un phénotype hyperkératosique."},"de":{"name":"Ichthyose, epidermolytische, autosomal-dominante","synonyms":["BCIE","Bullöse kongenitale ichthyosiforme Erythrodermie Brocq","EHK","EI","Erythrodermie, ichthyosiforme kongenitale, bullöse Form","Hyperkeratose, epidermolytische","Ichthyose, bullöse","Ichthyosis hystrix Typ Brocq"],"definition":"Die Epidermolytische Ichthyose (EI) ist eine seltene keratinopathische Ichthyose (KPI) mit einen blasenbildenden Phänotyp bei der Geburt, der sich fortschreitend zu einem hyperkeratotischen Phänotyp entwickelt"},"es":{"name":"Ictiosis epidermolítica autosómica dominante","synonyms":["Ictiosis bullosa","Ictiosis hystrix tipo Brocq","BCIE","EHK","EI","Eritrodermia ictiosiforme congénita ampollosa","Eritrodermia ictiosiforme congénita ampollosa de Brocq","Eritrodermia ictiosiforme congénita bullosa","Eritrodermia ictiosiforme congénita bullosa de Brocq","Hiperqueratosis epidermolítica","Ictiosis ampollosa"],"definition":"Es una ictiosis queratinopática (IQ) poco frecuente caracterizada por un fenotipo ampolloso al nacimiento que progresivamente se vuelve hiperqueratósico."},"it":{"name":"Ittiosi epidermolitica autosomica dominante","synonyms":["BCIE","EHK","EI","Eritroderma ittiosiforme bolloso congenit","Eritroderma ittiosiforme bolloso congenito di Brock","Ipercheratosi epidermolitica","Ittiosi bollosa"],"definition":"L'ittiosi epidermolitica (EI) è un'ittiosi cheratinopatica rara (KPI), caratterizzata dalla formazione di vescicole alla nascita, che evolvono progressivamente in un fenotipo ipercheratosico."},"nl":{"name":"Autosomaal dominante epidermolytische ichthyosis","synonyms":["BCIE","Bulleuze congenitale ichthyosiforme erytrodermie","Bulleuze congenitale ichthyosiforme erytrodermie van Brock","Bulleuze ichthyosis","EHK","EI","Epidermolytische hyperkeratose","Ichthyosis bullosa","Ichthyosis hystrix, Brocq-type"],"definition":"Een zeldzame keratinopathische ichthyosis (KPI), gekenmerkt door een blaarvormend fenotype bij de geboorte dat progressief hyperkeratotisch wordt."},"pt":{"name":"Ictiose epidermolítica autossómica dominante","synonyms":["BCIE","Eritrodermia ictiosiforme bolhosa congénita","Eritrodermia ictiosiforme bolhosa congénita Brock","Hiperqueratose epidermolítica","Ictiose bolhosa"],"definition":"Ictiose queratinopática (IQP) rara caracterizada por um fenótipo de formação de bolhas ao nascimento que se torna progressivamente hiperqueratótico."},"pl":{"name":"Nadmierne rogowacenie epidermiolityczne","synonyms":["BCIE","EHK","EI","Hiperkeratoza epidermolityczna","Rybia łuska pęcherzowa","Wrodzona pęcherzowa erytrodermia ichtiotyczna","Wrodzona pęcherzowa erytrodermia ichtiotyczna Brocka"]},"cs":{"name":"Epidermolytická ichtyóza","synonyms":["BCIE","Erythrodermia ichthyosiformis congenita bullosa","Bulózní vrozená ichtyosiformní Brockova erytrodermie","Bulózní ichtyóza","EHK","EI","Epidermolytická hyperkeratóza"]},"uk":{"name":"Аутосомно-домінантний епідермолітичний іхтіоз","synonyms":["BCIE","Бульозна вроджена іхтіозиформна еритродермія","Бульозна вроджена іхтіозиформна еритродермія Брока","Бульозний іхтіоз","EHK","EI","Епідермолітичний гіперкератоз","Ichthyosis hystrix Brocq"],"definition":"A rare keratinopathic ichthyosis (KPI) characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic."},"zh":{"name":"常染色体显性遗传表皮松解性鱼鳞病","synonyms":["Brock先天性大疱性鱼鳞病样红皮病"]},"tr":{"name":"Otozomal dominant epidermolitik iktiyoz","synonyms":["EI","EHK","BCIE","Büllöz iktiyoz","Epidermolitik hiperkeratoz","İktiyoz histriksi Brocq tipi","Büllöz doğumsal iktiyoziform eritrodermi","Brock'un büllöz doğumsal iktiyoziform eritrodermisi"]}},"xrefs":[{"source":"OMIM","code":"113800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC20.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1183730789"},{"source":"MONDO","code":"0020702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"20702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017488","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079153","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1039","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281103,"name":"Keratinopathic ichthyosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT1","name":"keratin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1380725[PMID]_7512983[PMID]","hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]},{"symbol":"KRT10","name":"keratin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1380725[PMID]_7512983[PMID]","hgnc":"6413","ensembl":"ENSG00000186395","omim":"148080","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4317,"area":"Japan","status":"Validated","source":"23182068[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Denmark","status":"Validated","source":"22930352[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"United States","status":"Not yet validated","source":"8053700[PMID]_7692917[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-27","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007475","label":"Congenital bullous ichthyosiform erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100780","label":"Conjunctival hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}