{"orpha":79394,"name":"Congenital ichthyosiform erythroderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIE","Erythrodermic ichthyosis","Non-bullous congenital ichthyosiform erythroderma"],"definition":"A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79394/","orphanet_url":"https://www.orpha.net/en/disease/detail/79394","names":{"fr":{"name":"Erythrodermie congénitale ichtyosiforme","synonyms":["CIE","Erythrodermie congénitale ichtyosiforme sèche","Ichtyose érythrodermique"],"definition":"Ichtyose congénitale autosomique récessive rare (ARCI pour autosomal recessive congenital ichthyosis) caractérisée par une desquamation généralisée accompagnée d'une érythrodermie plus ou moins sévère, sans formation de vésicules."},"de":{"name":"Erythrodermie, ichthyosiforme kongenitale","synonyms":["CIE","Erythrodermie, ichthyosiforme kongenitale, nicht-bullöse Form","Ichthyose, erythrodermische"],"definition":"Eine autosomal-rezessive kongenitale Ichthyose (ARCI), die sich durch eine generalisierte Schuppung auszeichnet, die von einer mehr oder weniger schweren Erythrodermie begleitet wird, ohne dass sich Blasen bilden."},"es":{"name":"Eritrodermia ictiosiforme congénita","synonyms":["Ictiosis eritrodérmica","EIC","Eritrodermia ictiosiforme congénita no ampollosa"],"definition":"Es una ictiosis congénita autosómica recesiva (ICAR) poco frecuente caracterizada por descamación generalizada acompañada de eritrodermia más o menos grave, sin formación de ampollas."},"it":{"name":"Eritroderma ittiosiforme congenito","synonyms":["CIE","Eritroderma ittiosiforme congenito non bolloso","Ittiosi eritrodermica"],"definition":"L'eritrodermia ittiosiforme congenita (CIE) è una variante dell'ittiosi congenita autosomica recessiva (ARCI), una malattia rara dell'epidermide, caratterizzata da squame bianchicce e solide nel contesto della cute eritematosa che ricopre tutto il corpo."},"nl":{"name":"Congenitale ichthyosiforme erytrodermie","synonyms":["CIE","Erytrodermische ichthyosis","Niet-bulleuze congenitale ichthyosiforme erytrodermie"],"definition":"Een zeldzame autosomaal recessieve congenitale ichthyosis (ARCI), gekenmerkt door gegeneraliseerde afschilfering vergezeld van min of meer ernstige erytrodermie, zonder blaarvorming."},"pt":{"name":"Eritrodermia ictiosiforme congénita","synonyms":["CIE","Eritrodermia ictiosiforme congénita não-bolhosa","Ictiose eritrodérmica"],"definition":"Ictiose congénita autossómica recessiva (ICAR) rara caracterizada por descamação generalizada acompanhada de eritrodermia mais ou menos grave, sem formação de bolhas."},"pl":{"name":"Wrodzona niepęcherzowa erytrodermia ichtiotyczna","synonyms":["CIE","Wrodzona erytrodermia ichtiotyczna"]},"cs":{"name":"Vrozená non-bulózní ichtyoziformní erythroderma","synonyms":["CIE","Erytrodermická ichtyóza","Non-bulózní vrozená ichtyoziformní erythroderma"]},"uk":{"name":"Вроджена іхтіозиформна еритродермія","synonyms":["CIE","Еритродермічний іхтіоз","Небульозна вроджена іхтіозиформна еритродермія"],"definition":"A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation."},"zh":{"name":"先天性非大疱性鱼鳞病样红皮病","synonyms":["非大疱性先天性鱼鳞病样红皮病"]},"tr":{"name":"Doğumsal büllöz olmayan iktiyozisiform eritroderma","synonyms":["CIE","Eritrodermik iktiyoz","Büllöz olmayan Doğumsal iktiyoziform eritrodermi"]}},"xrefs":[{"source":"OMIM","code":"242100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606545","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612281","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615022","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615023","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615024","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617574","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"546439698"},{"source":"MONDO","code":"0019306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079154","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":"18284401[PMID]_19262603[PMID]_22257947[PMID]","hgnc":"14637","ensembl":"ENSG00000144452","omim":"607800","loci":["2q35"]},{"symbol":"ALOX12B","name":"arachidonate 12-lipoxygenase, 12R type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16792775[PMID]_18347291[PMID]_12780701[PMID]_20301593[PMID]","hgnc":"430","ensembl":"ENSG00000179477","omim":"603741","loci":["17p13.1"]},{"symbol":"ALOXE3","name":"arachidonate epidermal lipoxygenase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12780701[PMID]","hgnc":"13743","ensembl":"ENSG00000179148","omim":"607206","loci":["17p13.1"]},{"symbol":"CERS3","name":"ceramide synthase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23549421[PMID]","hgnc":"23752","ensembl":"ENSG00000154227","omim":"615276","loci":["15q26.3"]},{"symbol":"NIPAL4","name":"NIPA like domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20016120[PMID]","hgnc":"28018","ensembl":"ENSG00000172548","omim":"609383","loci":["5q33.3"]},{"symbol":"PNPLA1","name":"patatin like domain 1, omega-hydroxyceramide transacylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22246504[PMID]","hgnc":"21246","ensembl":"ENSG00000180316","omim":"612121","loci":["6p21.31"]},{"symbol":"SDR9C7","name":"short chain dehydrogenase/reductase family 9C member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28906551[PMID]","hgnc":"29958","ensembl":"ENSG00000170426","omim":"609769","loci":["12q13.3"]},{"symbol":"SULT2B1","name":"sulfotransferase family 2B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28575648[PMID]","hgnc":"11459","ensembl":"ENSG00000088002","omim":"604125","loci":["19q13.33"]},{"symbol":"TGM1","name":"transglutaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12780701[PMID]","hgnc":"11777","ensembl":"ENSG00000092295","omim":"190195","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Spain","status":"Validated","source":"22000705[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000656","label":"Ectropion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}