{"orpha":457,"name":"Harlequin ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal congenital ichthyosis, Harlequin type","HI","Ichthyosis congenita, Harlequin type"],"definition":"A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457/","orphanet_url":"https://www.orpha.net/en/disease/detail/457","names":{"fr":{"name":"Ichtyose harlequin","synonyms":["HI","Ichtyose arlequin","Ichtyose congénitale autosomale, type arlequin"],"definition":"Ichtyose congénitale autosomique récessive rare caractérisée par la présence, dès la naissance, de grandes squames épaisses en forme de plaques sur tout le corps, avec ectropion et eclabium sévères et oreilles aplaties, progressant ensuite vers une érythrodermie desquamative sévère. L'ichtyose harlequin est la forme la plus sévère de ce groupe de maladies."},"de":{"name":"Harlekin-Ichthyose","synonyms":["HI","Ichthyose, kongenitale, Typ Harlequin","Ichthyosis congenita vom Harlequin Typ","Ichthyosis fetalis vom Harlekin Typ"],"definition":"Eine seltene Form der autosomal-rezessiven kongenitalen Ichthyose (ARCI). Sie ist gekennzeichnet durch schon bei Geburt bestehende große, dicke, plattenförmige Schuppen über dem ganzen Körper, mit starker Umstülpung der Augenlider und Lippen und abgeflachten Ohren und durch die spätere Entwicklung in eine schwere schuppende Erythrodermie."},"es":{"name":"Ictiosis arlequín","synonyms":["Ictiosis congénita autosómica tipo arlequín","Ictiosis congénita tipo arlequín"],"definition":"Es una forma poco frecuente de ictiosis congénita autosómica recesiva. Está caracterizada por la presencia, al nacimiento, de escamas grandes, gruesas y con aspecto de placas afectando a todo el cuerpo, asociadas a ectropion grave, eclabio y orejas aplanadas. En fases más tardías, se transforma en una intensa eritrodermia. Es la forma más grave dentro de este grupo."},"it":{"name":"Ittiosi Arlecchino","synonyms":["HI","Ittiosi congenita autosomica tipo Arlecchino","Ittiosi congenita tipo Arlecchino"],"definition":"L'ittiosi \"Arlecchino\" (HI) è la variante più grave dell'ittiosi congenita autosomica recessiva (ARCI). È caratterizzata, alla nascita, da squame grandi, spesse e simili a placche su tutto il corpo (con grave ectropion, eclabium e orecchie appiattite), che evolvono in seguito in una grave eritrodermia desquamativa."},"nl":{"name":"Harlekijnichthyosis","synonyms":["Autosomale congenitale ichthyosis, Harlekijn-type","HI","Ichthyosis congenita, Harlekijn-type"],"definition":"Een zeldzame autosomaal recessieve congenitale ichthyosis, bij de geboorte gekenmerkt door de aanwezigheid van grote, dikke, plaatvormige schilfers over het gehele lichaam, geassocieerd met ernstig ectropion, eclabium en afgeplatte oren, die later evolueren tot een ernstige schilferende erytrodermie. Harlekijnichthyosis is de meest ernstige aandoening in deze groep."},"pt":{"name":"Ictiose Harlequim","synonyms":["HI","Ictiose congénita autossómica, tipo Harlequim","Ictiose congénita, tipo Harlequim"],"definition":"A ictiose harlequin (HI) é a variante mais grave de ictiose congénita autossómica recessiva (ARCI; ver este termo). Caracteriza-se à nascença pela presença de escamas grandes, finas, tipo placa por todo o corpo associada com ectropion grave, eclábio e orelhas achatadas, que mais tarde evolui para uma grave eritrodermia descamativa."},"pl":{"name":"Rybia łuska arlekinowa","synonyms":["Rybia łuska płodowa, typu harlekin","Rybia łuska wrodzona, typu harlekin"]},"cs":{"name":"Harlequin ichthyosis","synonyms":["HI","Vrozená ichthyóza, typ harlekýn","Fetální ichtyóza, typ harlekýn","Plod harlekýn"]},"uk":{"name":"Іхтіоз Арлекіна","synonyms":["Аутосомний вроджений іхтіоз, тип Арлекін","HI","Вроджений іхтіоз, тип Арлекін"],"definition":"A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group."},"zh":{"name":"花斑眼镜蛇样鱼鳞病","synonyms":["先天性鱼鳞病Harlequin型"]},"tr":{"name":"Harlequin iktiyoz","synonyms":["HI","İktiyoz fetalis, Harlequin tipi","İktiyoz konjenita, Harlequin tipi"]}},"xrefs":[{"source":"OMIM","code":"242500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC20.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"895541233"},{"source":"MONDO","code":"0009443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0239849","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6568","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019163","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281097,"name":"Autosomal recessive congenital ichthyosis","classifications":[147,156,187,189]}],"children":[],"genes":[{"symbol":"ABCA12","name":"ATP binding cassette subfamily A member 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301593[PMID]_19179616[PMID]","hgnc":"14637","ensembl":"ENSG00000144452","omim":"607800","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24920541[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"24920541[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007431","label":"Congenital ichthyosiform erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","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:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012472","label":"Eclabion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null}]}}