{"orpha":735,"name":"Porokeratosis of Mibelli","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-735/","orphanet_url":"https://www.orpha.net/en/disease/detail/735","names":{"fr":{"name":"Porokératose de Mibelli","definition":"Forme de porokératose caracterisée par la présence de plaques annulaires brunâtres uniques ou multiples de taille variable, parfois confluentes, qui comportent une bordure caractéristique kératosique bien limitée."},"de":{"name":"Porokeratosis Mibelli","definition":"Eine seltene Hauterkrankung, die durch das Vorhandensein bräunlicher einzelner oder mehrerer ringförmiger Plaques unterschiedlicher Größe gekennzeichnet ist, die manchmal zusammenfließen und einen charakteristischen, scharf begrenzten keratotischen Rand aufweisen."},"es":{"name":"Poroqueratosis de Mibelli","definition":"Es una enfermedad poco frecuente de la piel caracterizada por la presencia de placas anulares, únicas o múltiples, de un color pardo y de un tamaño variable ocasionalmente confluentes, con un borde queratósico característico bien definido."},"it":{"name":"Porocheratosi di Mibelli","definition":"La porocheratosi di Mibelli (PM) è una malattia rara della cute, caratterizzata da placche anulari singole o multiple, brunastre, di dimensioni variabili, talvolta confluenti, con un caratteristico margine cheratosico ben definito."},"nl":{"name":"Porokeratose van Mibelli","definition":"Een zeldzame aandoening van huid, gekarakteriseerd door aanwezigheid van een of meerdere bruinige, annulaire plaques die een variabele omvang vertonen, soms confluent kunnen zijn, en een kenmerkende scherp afgelijnde, keratotische rand hebben."},"pt":{"name":"Poroqueratose de Mibelli"},"pl":{"name":"Rogowacenie kanalikowate Mibelliego"},"cs":{"name":"Mibelliho porokeratóza"},"uk":{"name":"Порокератоз Мібеллі","definition":"A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border."},"zh":{"name":"汗孔角化病"},"tr":{"name":"Mibelli Porokeratozu"}},"xrefs":[{"source":"OMIM","code":"175800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"175900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED52","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1981283512"},{"source":"MONDO","code":"0019141","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0949506","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4438","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183444,"name":"Genetic porokeratosis","classifications":[156]},{"orpha":79358,"name":"Porokeratosis","classifications":[187]}],"children":[],"genes":[{"symbol":"MVK","name":"mevalonate kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26202976[PMID]","hgnc":"7530","ensembl":"ENSG00000110921","omim":"251170","loci":["12q24.11"]},{"symbol":"PMVK","name":"phosphomevalonate kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26202976[PMID]","hgnc":"9141","ensembl":"ENSG00000163344","omim":"607622","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Pr KANITAKIS Jean[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200044","label":"Porokeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null}]}}