{"orpha":2309,"name":"Pachyonychia congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PC"],"definition":"A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2309/","orphanet_url":"https://www.orpha.net/en/disease/detail/2309","names":{"fr":{"name":"Pachyonychie congénitale","synonyms":["PC"],"definition":"Maladie rare de la peau d'origine génétique principalement caractérisée par une kératodermie palmoplantaire douloureuse, un épaississement unguéal, des kystes et des plaques blanches sur la langue et la muqueuse buccale."},"de":{"name":"Pachyonychia congenita","synonyms":["PC","Pachyonychie, kongenitale"],"definition":"Eine seltene genetisch bedingte Hautkrankheit, die sich vor allem durch schmerzhafte Palmoplantarkeratosen, verdickte Nägel, Zysten und weiße Plaques auf der Zunge und der Mundschleimhaut auszeichnet."},"es":{"name":"Paquioniquia congénita","synonyms":["PC"],"definition":"Es una enfermedad cutánea poco frecuente de origen genético que se manifiesta predominantemente como una queratodermia palmo-plantar dolorosa, engrosamiento de las uñas, quistes y placas blanquecinas en la lengua y la mucosa oral."},"it":{"name":"Pachionichia congenita","synonyms":["PC"],"definition":"La pachionichia congenita (PC) è una genodermatosi rara, caratterizzata prevalentemente da cheratoderma palmoplantare doloroso, ispessimento delle unghie, cisti e mucose orali bianchicce."},"nl":{"name":"Pachyonychia congenita","synonyms":["PC"],"definition":"Een zeldzame genetische aandoening van huid, hoofdzakelijk gekenmerkt door pijnlijke palmoplantaire keratodermie, verdikte nagels, cysten en witte plaques die tong en mondslijmvlies aantasten."},"pt":{"name":"Paquioniquia congénita","synonyms":["PC"],"definition":"Doença genética da pele rara que apresenta predominantemente queratodermia palmoplantar dolorosa, espessamento das unhas, quistos e placas brancas que afetam a língua e a mucosa oral."},"pl":{"name":"Wrodzone zgrubienie paznokci","synonyms":["PC"]},"cs":{"name":"Vrozená panyonychie","synonyms":["PC"]},"uk":{"name":"Вроджена пахіоніхія","synonyms":["PC"],"definition":"A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa."},"zh":{"name":"先天性厚甲症","synonyms":["PC"]},"tr":{"name":"Pakioniki konjenita","synonyms":["PC"]}},"xrefs":[{"source":"OMIM","code":"167200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"167210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"260130","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615726","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615728","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1446983705"},{"source":"MONDO","code":"0016471","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053549","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265334","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10753","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080088","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98353,"name":"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT16","name":"keratin 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301457[PMID]","hgnc":"6423","ensembl":"ENSG00000186832","omim":"148067","loci":["17q21.2"]},{"symbol":"KRT17","name":"keratin 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301457[PMID]","hgnc":"6427","ensembl":"ENSG00000128422","omim":"148069","loci":["17q21.2"]},{"symbol":"KRT6A","name":"keratin 6A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301457[PMID]","hgnc":"6443","ensembl":"ENSG00000205420","omim":"148041","loci":["12q13.13"]},{"symbol":"KRT6B","name":"keratin 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301457[PMID]","hgnc":"6444","ensembl":"ENSG00000185479","omim":"148042","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1000.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-29","source":"20301457[PMID]_23056978[PMID]","terms":[{"hpo":"HP:0030268","label":"Hyperplastic callus formation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008401","label":"Onychogryposis of toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025245","label":"Cutaneous cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007490","label":"Linear arrays of macular hyperkeratoses in flexural areas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040036","label":"Onychogryposis of fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002745","label":"Oral leukoplakia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007410","label":"Palmoplantar hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012035","label":"Steatocystoma multiplex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030766","label":"Ear pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025248","label":"Eruptive vellus hair cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001818","label":"Paronychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030318","label":"Angular cheilitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null}]}}