{"orpha":140966,"name":"Palmoplantar keratoderma, Nagashima type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPK, Nagashima type","Palmoplantar hyperkeratosis, Nagashima type"],"definition":"A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140966/","orphanet_url":"https://www.orpha.net/en/disease/detail/140966","names":{"fr":{"name":"Kératodermie palmoplantaire type Nagashima","synonyms":["Hyperkératose palmoplantaire type Nagashima","KPP type Nagashima","PPK type Nagashima"],"definition":"La kératose de type Nagashima est une kératodermie palmoplantaire autosomique récessive, ressemblant à une forme légère du mal de Meleda."},"de":{"name":"Palmoplantarkeratose Typ Nagashima","synonyms":["PPK, Nagashima-Typ"],"definition":"Der Typ Nagashima der Keratose ist eine transgressive und nicht-progrediente Form von Palmoplantarkeratose und ähnelt einer milden Form des Mal de Meleda. Bisher wurden 20 Patienten beschrieben. Die Vererbung ist autosomal-rezessiv."},"es":{"name":"Queratodermia palmoplantar tipo Nagashima","synonyms":["Hiperqueratosis palmoplantar tipo Nagashima","PPK tipo Nagashima"],"definition":"Es una queratodermia palmoplantar difusa aislada, de herencia autosómica recesiva y poco frecuente, caracterizada por queratodermia palmoplantar transgrediens no progresiva que se asemeja a una forma leve del mal de Meleda."},"it":{"name":"Cheratoderma palmoplantare, tipo Nagashima","synonyms":["Ipercheratosi palmoplantare, tipo Nagashima","PPK, tipo Nagashima"]},"nl":{"name":"Palmoplantaire keratodermie, Nagashima-type","synonyms":["PPK, Nagashima-type","Palmoplantaire hyperkeratose, Nagashima-type"],"definition":"Een zeldzame autosomaal recessieve, geïsoleerde diffuse palmoplantaire keratodermie, gekenmerkt door transgressieve en niet-progressieve palmoplantaire keratodermie gelijkend op een milde vorm van mal de Meleda."},"pt":{"name":"Queratodermia palmoplantar, tipo Nagashima","synonyms":["Hiperqueratose tipo Nagashima"],"definition":"A queratose tipo Nagashima é uma queratodermia palmoplantar transgressiva e não-progressiva, semelhante a uma forma ligeira leve do mal de Meleda (ver este termo)."},"pl":{"name":"Rogowiec dłoniowo-podeszwowy, typ Nagashima","synonyms":["Hiperkeratoza dłoniowo-podeszwowa, typ Nagashima","PPK, typ Nagashima"]},"cs":{"name":"Palmoplantární keratoderma, Nagashimův typ","synonyms":["PPK, Nagashimův typ","Palmoplantární hyperkeratóza, Nagashimův typ"]},"uk":{"name":"Долонно-підошовна кератодермія, тип Нагасіма","synonyms":["Долонно-підошовний гіперкератоз, тип Нагасіма","PPK, тип Nagashima"],"definition":"A rare autosomal recessive, isolated diffuse palmoplantar keratoderma charactized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda."},"zh":{"name":"Nagashima 型掌跖角化症","synonyms":["掌跖过度角化症Nagashima 型"],"definition":"Nagashima型角化病是一种侵入性和非进展性掌跖角化病，与先天性掌跖角化病轻型（见该词条）相似。"},"tr":{"name":"Palmoplantar keratoderma, Nagashima türü","synonyms":["PPK, Nagashima tipi","Palmoplantar hiperkeratoz, Nagashima tipi"]}},"xrefs":[{"source":"OMIM","code":"615598","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1288797757"},{"source":"MONDO","code":"0014272","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98356,"name":"Autosomal recessive isolated diffuse palmoplantar keratoderma","classifications":[156,187]},{"orpha":250811,"name":"Serpinopathy with loss of serpin function","classifications":[156]}],"children":[],"genes":[{"symbol":"SERPINB7","name":"serpin family B member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24207119[PMID]","hgnc":"13902","ensembl":"ENSG00000166396","omim":"603357","loci":["18q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"27666198[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27666198[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18347294[PMID]","terms":[{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null}]}}