{"orpha":34217,"name":"Naxos disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KWWH type I","Keratoderma with woolly hair type I","Keratosis palmoplantaris with arrythmogenic cardiomyopathy","Naxos syndrome","Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy","Palmoplantar keratoderma with arrythmogenic cardiomyopathy"],"definition":"A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34217/","orphanet_url":"https://www.orpha.net/en/disease/detail/34217","names":{"fr":{"name":"Maladie de Naxos","synonyms":["KWWH type I","Syndrome d'hyperkératose palmoplantaire-cardiomyopathie arythmogène","Syndrome de Naxos","Syndrome de kératodermie palmoplantaire-cardiomyopathie arythmogène"],"definition":"Cardiomyopathie ventriculaire droite arythmogène (CVDA) rare et un phénotype cutané, caractérisé par des cheveux laineux typiques et une kératodermie palmoplantaire."},"de":{"name":"Naxos-Krankheit","synonyms":["KWWH Typ I","Keratoderm mit Wollhaaren Typ I","Naxos-Syndrom","Palmoplantare Hyperkeratose mit arrythmogener Kardiomyopathie","Palmoplantarkeratose mit arrhythmogener Kardiomyopathie"],"definition":"Eine seltene arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVC) und ein Hautphänotyp, der durch auffällige wollige Haare und Palmoplantarkeratosen gekennzeichnet ist."},"es":{"name":"Enfermedad de Naxos","synonyms":["Hiperqueratosis palmoplantar con miocardiopatía arritmogénica","Queratodermia con cabello lanoso tipo I","Queratodermia palmoplantar con miocardiopatía arritmogénica","Queratosis palmoplantar con miocardiopatía arritmogénica","Síndrome de Naxos"],"definition":"Es una miocardiopatía arritmogénica del ventrículo derecho (MAVD) poco frecuente y con fenotipo cutáneo, caracterizado por pelo lanoso peculiar y queratodermia palmoplantar."},"it":{"name":"Malattia di Naxos","synonyms":["Cheratoderma con capelli lanosi, tipo I","Cheratoderma palmoplantare con cardiomiopatia aritmogena","Cheratosi palmoplantare con cardiomiopatia aritmogena","Ipercheratosi palmoplantare con cardiomiopatia aritmogena","KWWH, tipo I","Sindrome di Naxos"]},"nl":{"name":"Ziekte van Naxos","synonyms":["Hyperkeratose van handpalm of voetzool met aritmogene cardiomyopathie","KWWH type I","Keratodermie met wollig haar type I","Keratodermie van handpalm of voetzool met aritmogene cardiomyopathie","Keratosis palmoplantaris met aritmogene cardiomyopathie","Palmoplantaire hyperkeratose met aritmogene cardiomyopathie","Palmoplantaire keratodermie met aritmogene cardiomyopathie","Syndroom van Naxos"],"definition":"Een zeldzame aritmogene rechterventrikelcardiomyopathie (ARVC) en een cutaan fenotype, gekenmerkt door eigenaardig wollig haar en palmoplantaire keratodermie."},"pt":{"name":"Doença Naxos","synonyms":["Hiperqueratose palmo-plantar com miocardiopatia arritmogénica","KWWH tipo I","Queratodermia com cabelo encaracolado tipo I","Queratodermia palmo-plantar com miocardiopatia arritmogénica","Queratose palmo-plantar com miocardiopatia arritmogénica","Síndrome Naxos"],"definition":"Cardiomiopatia arritmógena rara do ventrículo direito (DAVD) e um fenótipo cutâneo, caracterizado pela presença de pêlos lanosos peculiares e queratodermia palmo-plantar."},"pl":{"name":"Choroba Naxos","synonyms":["Hiperkeratoza dłoni i stóp z kardiomiopatią arytmogenną","KWWH typu I","Rogowiec dłoni i stóp z kardiomiopatią arytmogenną","Rogowiec dłoniowo-podeszwowy z kardiomiopatią arytmogenną","Rogowiec z włosami wełnistymi typu I"]},"cs":{"name":"Naxosská nemoc","synonyms":["KWWH typ I","Keratosis palmoplantaris s arytmogenní kardiomyopatií","Palmoplantární hyperkeratóza s arytmogenní kardiomyopatií","Palmoplantární keratoderma s arytmogenní kardiomyopatií","Keratoderma s vlněnými vlasy, typ I"]},"uk":{"name":"Хвороба Наксоса","synonyms":["Кератодермія з вовняним волоссям I типу","Кератоз долонь з аритмогенною кардіоміопатією","KWWH тип I","Синдром Наксоса","Долонно-підошовний гіперкератоз з аритмогенною кардіоміопатією","Долонно-підошовна кератодермія з аритмогенною кардіоміопатією"],"definition":"A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma."},"zh":{"name":"Naxos病","synonyms":["掌跖角化过度伴心律失常性心肌病"]},"tr":{"name":"Naxos hastalığı","synonyms":["KWWH türü I","Yünlü saç tipi I olan keratoderma","Aritmojenik kardiyomiyopatili keratoz palmoplantaris","Aritmojenik kardiyomiyopatili Palmoplantar keratoderma","Aritmojenik kardiyomiyopatili Palmoplantar hiperkeratoz"]}},"xrefs":[{"source":"OMIM","code":"601214","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"633516876"},{"source":"MONDO","code":"0011017","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538346","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832600","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9795","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":247,"name":"Inherited arrhythmogenic cardiomyopathy","classifications":[146,156,233]},{"orpha":434809,"name":"Syndrome with woolly hair","classifications":[156,187]}],"children":[],"genes":[{"symbol":"JUP","name":"junction plakoglobin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"6207","ensembl":"ENSG00000173801","omim":"173325","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"15210133[PMID]_34926342[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004751","label":"Paroxysmal ventricular tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null}]}}