{"orpha":455,"name":"Superficial epidermolytic ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ichthyosis bullosa of Siemens","SEI"],"definition":"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-455/","orphanet_url":"https://www.orpha.net/en/disease/detail/455","names":{"fr":{"name":"Ichtyose épidermolytique superficielle","synonyms":["Ichtyose bulleuse de Siemens","SEI"],"definition":"L'ichtyose épidermolytique superficielle (IES) est une forme rare d'ichtyose kératinopathique (IKP) caractérisée par la présence de bulles et de lésions érosives à la naissance."},"de":{"name":"Ichthyose, epidermolytische superfizielle","synonyms":["Ichthyosis bullosa Siemens","SEI"],"definition":"Die Epidermolytische superfizielle Ichthyose (SEI) ist eine seltene keratinopathische Ichthyose (KI; siehe dort) und gekennzeichnet durch oberflächlicher Blasen und Erosionen bei der Geburt."},"es":{"name":"Ictiosis epidermolítica superficial","synonyms":["Ictiosis ampollosa de Siemens","Ictiosis bullosa de Siemens","SEI"],"definition":"La ictiosis epidermolítica superficial (SEI) es una ictiosis queratinopática rara (KI; consulte este término) caracterizada por la presencia al nacimiento de ampollas y erosiones superficiales."},"it":{"name":"Ittiosi epidermolitica superficiale","synonyms":["Ittiosi bollosa di Siemens","SEI"],"definition":"L'ittiosi epidermolitica superficiale (SEI) è un'ittiosi cheratinopatica rara (KI; si veda questo termine), caratterizzata alla nascita dalla presenza di vesciche ed erosioni superficiali."},"nl":{"name":"Oppervlakkige epidermolytische ichthyosis","synonyms":["Bulleuze ichthyosis van Siemens","Ichthyosis bullosa van Siemens","Ichthyosis exfoliativa","SEI"],"definition":"Oppervlakkige epidermolytische ichthyosis (SEI) is een zeldzame keratinopathische ichthyosis (KI; zie deze term) die wordt gekarakteriseerd door de aanwezigheid van oppervlakkige blaren en erosies bij de geboorte."},"pt":{"name":"Ictiose epidermolítica superficial","synonyms":["Ictiose bolhosa de Siemens","Ictiose exfoliativa"]},"pl":{"name":"Nadmierne rogowacenie epidermiolityczne powierzchowne","synonyms":["Rybia łuska pęcherzowa Siemensa","SEI"]},"cs":{"name":"Superficiální epidermolytická ichtyóza","synonyms":["Ichthyosis bullosa, typ Siemens","SEI"]},"uk":{"name":"Поверхневий епідермолітичний іхтіоз","synonyms":["Бульозний іхтіоз Сіменса","SEI"],"definition":"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth."},"zh":{"name":"浅表表皮松解鱼鳞病","synonyms":["Siemens大疱性鱼鳞病"]},"tr":{"name":"Yüzeysel epidermolitik iktiyoz","synonyms":["SEI","Siemens iktiyoz bülloza"]}},"xrefs":[{"source":"OMIM","code":"146800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"842172475"},{"source":"MONDO","code":"0007813","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432306","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2966","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":"KRT2","name":"keratin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15949009[PMID]","hgnc":"6439","ensembl":"ENSG00000172867","omim":"600194","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-20","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null}]}}