{"orpha":86918,"name":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome"],"definition":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86918/","orphanet_url":"https://www.orpha.net/en/disease/detail/86918","names":{"fr":{"name":"Syndrome de kératodermie palmoplantaire diffuse-acrocyanose","synonyms":["Syndrome d'hyperkératose palmoplantaire diffuse-acrocyanose"],"definition":"Syndrome de kératodermie palmoplantaire diffuse-acrocyanose est caractérisé par l'association d'une kératodermie palmo-plantaire et d'une acrocyanose. Il a été décrit chez huit membres d'une famille et dans deux cas sporadiques. Le mode de transmission des cas familiaux est autosomique dominant."},"de":{"name":"Diffuse palmoplantare Keratose-Akrozyanose-Syndrom","synonyms":["Palmoplantarkeratose, diffuse - Akrozyanose"],"definition":"Dieses Syndrom ist gekennzeichnet durch diffuse Palmoplantarkeratose und Akrozyanose. Es wurde in 1 Familie bei 8 Angehörigen und bei 2 sporadischen Fällen beschrieben. Die Vererbung in der Familie war autosomal-dominant."},"es":{"name":"Síndrome de queratodermia palmoplantar difuso-acrocianosis","synonyms":["Síndrome de hiperqueratosis palmoplantar difuso-acrocianosis"],"definition":"Es un síndrome caracterizado por la asociación de queratodermia palmoplantar difusa y acrocianosis. Se ha descrito en ocho miembros de una misma familia y en dos casos esporádicos. En los casos familiares, el modo de herencia seguía un patrón autosómico dominante."},"it":{"name":"Sindrome cheratoderma palmoplantare diffuso-acrocianosi","synonyms":["Sindrome ipercheratosi palmoplantare diffusa-acrocianosi"]},"nl":{"name":"Diffuse palmoplantaire keratodermie - acrocyanose-syndroom","synonyms":["Diffuse palmoplantaire hyperkeratose - acrocyanose-syndroom"],"definition":"Diffuse palmoplantaire keratodermie - acrocyanose-syndroom wordt gekenmerkt door de associatie van diffuse palmoplantaire keratodermie en acrocyanose. Het werd beschreven bij acht leden van één familie en bij twee sporadische gevallen. De manier van overerving in de familiale gevallen was autosomaal dominant."},"pt":{"name":"Síndrome de queratodermia palmoplantar difusa-acrocianose"},"pl":{"name":"Zespół rozlany rogowiec dłoniowo-podeszwowy - akrocyjanoza","synonyms":["Zespół rozlana hiperkeratoza dłoniowo-podeszwowa - akrocyjanoza"]},"cs":{"name":"Syndrom zahrnující difuzní palmoplantární keratoderma a akrocyanózu","synonyms":["Syndrom zahrnující difuzní palmoplantární hyperkeratózu a akrocyanózu"]},"uk":{"name":"Синдром дифузної долонно-підошовної кератодермії-акроціанозу","synonyms":["Синдром дифузного долонно-підошовного гіперкератозу-акроціанозу"],"definition":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant."},"zh":{"name":"弥漫性掌跖角化病-肢端发绀综合征","synonyms":["弥漫性掌跖角化过度-肢端发绀综合征"]},"tr":{"name":"Diffüz palmoplantar keratoderma-akrosiyanoz sendromu","synonyms":["Yaygın palmoplantar hiperkeratoz-akrosiyanoz sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"2564235[PMID]_8578969[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2564235[PMID]_8578969[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null}]}}