{"orpha":678,"name":"Papillon-Lefèvre syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Keratosis palmoplantar-periodontopathy syndrome","PLS"],"definition":"Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-678/","orphanet_url":"https://www.orpha.net/en/disease/detail/678","names":{"fr":{"name":"Syndrome de Papillon-Lefèvre","synonyms":["Syndrome de kératodermie palmoplantaire-périodontopathie"],"definition":"Le syndrome de Papillon-Lefèvre (SPL) est une dysplasie ectodermique rare, caractérisée par une kératodermie palmoplantaire associée à une maladie parodontale précoce."},"de":{"name":"Papillon-Lefèvre-Syndrom","synonyms":["Keratosis palmoplantaris - Periodontopathie"],"definition":"Das Papillon-Lefèvre-Syndrom (PLS) ist eine seltene ektodermale Dysplasie, und gekennzeichnet durch palmoplantare Keratosen, die mit früh einsetzender Periodontitis assoziiert sind."},"es":{"name":"Síndrome de Papillon-Lefèvre","synonyms":["Queratosis palmoplantar-periodontopatía"],"definition":"El síndrome de Papillon-Lefèvre (SPL) es una displasia ectodérmica rara caracterizada por una queratodermia palmoplantar asociada a una periodontitis de inicio temprano."},"it":{"name":"Sindrome di Papillon-Lefèvre","synonyms":["Cheratosi palmoplantare - periodontopatia","PLS"],"definition":"La sindrome di Papillon-Lefèvre (PLS) è una displasia ectodermica rara caratterizzata da cheratoderma palmoplantare con parodontite a esordio precoce."},"nl":{"name":"Syndroom van Papillon-Lefèvre","synonyms":["PLS","Palmoplantaire keratose - parodontopathie-syndroom"],"definition":"Syndroom van Papillon-Lefèvre (PLS) is een zeldzame ectodermale dysplasie die wordt gekarakteriseerd door palmoplantaire keratodermie geassocieerd met parodontitis met vroege aanvang."},"pt":{"name":"Síndrome Papillon-Lefèvre","synonyms":["PLS","Síndrome de queratose palmo-plantar-periodontopatia"]},"pl":{"name":"Zespół Papillon i Lefèvre","synonyms":["Keratodermia dłoni i podeszw stóp - periodontopatia","plS"]},"cs":{"name":"Papillonův-Lefèvreho syndrom","synonyms":["Syndrom zahrnující palmoplantární keratózu a periodontopatii","PLS","Papillon-Lefèvreho syndrom"]},"uk":{"name":"Синдром Папілона-Лефевра","synonyms":["Синдром кератозно-пальмоплантарно-періодонтопатії","PLS"],"definition":"Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis."},"zh":{"name":"Papillon-Lefèvre综合征","synonyms":["掌跖角化-牙周病综合征"]},"tr":{"name":"Papillon-Lefèvre sendromu","synonyms":["PLS","Keratoz palmoplantar-periodontopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"245000","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":"1656270982"},{"source":"MONDO","code":"0009490","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0030360","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":309340,"name":"Disorder of lysosomal-related organelles","classifications":[150,156]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":674648,"name":"Syndrome with congenital phagocyte functional defect as a major feature","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CTSC","name":"cathepsin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16460249[PMID]","hgnc":"2528","ensembl":"ENSG00000109861","omim":"602365","loci":["11q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Worldwide","status":"Validated","source":"14244097[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006308","label":"Atrophy of alveolar ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000166","label":"Severe periodontitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011132","label":"Chronic furunculosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100838","label":"Recurrent cutaneous abscess formation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001073","label":"Cigarette-paper scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}