{"orpha":79503,"name":"Ichthyosis hystrix of Curth-Macklin","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ichthyosis hystrix, Curth-Macklin type"],"definition":"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79503/","orphanet_url":"https://www.orpha.net/en/disease/detail/79503","names":{"fr":{"name":"Ichtyose hystrix de Curth-Macklin","definition":"L'ichthyose hystrix de Curth-Macklin est une forme rare d'ichtyose kératinopathique caractérisée par la présence de lésions hyperkératosiques sévères associée à une kératodermie palmoplantaire (KPP)."},"de":{"name":"Ichthyosis hystrix Curth-Macklin","synonyms":["Ichthyosis hystrix Typ Curth-Macklin"],"definition":"Die Ichthyosis hystrix Curth-Macklin (IHCM) ist ein seltener Typ der keratinopathischen Ichthyose (siehe dort), der durch schwere hyperkeratotische Läsionen und palmoplantare Keratosen (PPK, siehe dort) gekennzeichnet ist."},"es":{"name":"Ictiosis histrix de Curth-Macklin","synonyms":["Ictiosis histrix tipo Curth-Macklin"],"definition":"La ictiosis histrix de Curth-Macklin (IHCM) es un tipo poco frecuente de ictiosis queratinopática (consulte este término), caracterizada por la presencia de lesiones hiperqueratóticas y queratodermia palmoplantar (PPK, consulte este término)."},"it":{"name":"Ittiosi a istrice di Curth-Macklin","synonyms":["Ittiosi a istrice, tipo Curth-Macklin"],"definition":"L'ittiosi a istrice di Curth-Macklin (IHCM) è una forma di ittiosi cheratinopatica rara (si veda questo termine), che si caratterizza per la presenza di gravi lesioni ipercheratosiche e cheratoderma palmoplantare (PPK; si veda questo termine)."},"nl":{"name":"Ichthyosis hystrix van Curth-Macklin","synonyms":["Ichthyosis hystrix, Curth-Macklin-type"],"definition":"Ichthyosis hystrix van Curth-Macklin (IHCM) is een zeldzaam type keratinopathische ichthyosis (zie deze term) dat wordt gekarakteriseerd door de aanwezigheid van ernstige hyperkeratotische letsels en palmoplantaire keratodermie (PPK; zie deze term)."},"pt":{"name":"Ictiose hystrix tipo Curth-Macklin"},"pl":{"name":"Rybia łuska jeżasta typu Curtha i Macklina","synonyms":["Rybia łuska jeżasta, typ Curtha i Macklina"]},"cs":{"name":"Ichthyosis hystrix Curthové-Macklinové","synonyms":["Ichthyosis hystrix, typ Curthové-Macklinové","Ichthyosis hystrix Curth-Macklinové","Ichthyosis hystrix, typ Curth-Macklinové"]},"uk":{"name":"Іхтіоз голчастий Курта-Макліна","synonyms":["Ichthyosis hystrix, тип Curth-Macklin"],"definition":"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)."},"zh":{"name":"Curth-Macklin型高起性鱼鳞病","synonyms":["鱼鳞病，Curth-Macklin型"]},"tr":{"name":"Curth-Macklin iktiyoz histriksi","synonyms":["İktiyoz histriksi, Curth-Macklin tipi"]}},"xrefs":[{"source":"OMIM","code":"146590","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":"656571170"},{"source":"MONDO","code":"0007808","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840296","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2954","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79504,"name":"Ichthyosis hystrix gravior","status":"inactive"}],"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":null,"hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"28405559[PMID]_26538731[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28405559[PMID]_26538731[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","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:0001581","label":"Recurrent skin infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007460","label":"Autoamputation of digits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011889","label":"Bleeding with minor or no trauma","frequency":"Occasional (29-5%)","criteria":null}]}}