{"orpha":1366,"name":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia","Cataract-alopecia-sclerodactyly syndrome","PPK-CA, Wallis type","Palmoplantar keratoderma and congenital alopecia, Wallis type"],"definition":"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1366/","orphanet_url":"https://www.orpha.net/en/disease/detail/1366","names":{"fr":{"name":"Kératodermie palmoplantaire et alopécie congénitale autosomique récessive","synonyms":["Hyperkératose palmoplantaire et alopécie congénitale autosomique récessive","KPP-AC type Wallis","Kératodermie palmoplantaire et alopécie congénitale type Wallis","PPK-CA type Wallis","Syndrome de cataracte-alopécie-sclérodactylie"],"definition":"La kératodermie palmoplantaire et alopécie congénitale autosomique récessive (KPP-AC) est un trouble cutané génétique rare caractérisé par une alopécie congénitale et une hyperkératose palmoplantaire. Il est généralement associé à des cataractes, une sclérodactylie progressive et un pseudo-aïnhum."},"de":{"name":"Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv","synonyms":["Katarakt - Alopezie - Sklerodaktylie","PPK-CA Typ Wallis","Palmoplantarkeratose - kongenitale Alopezie, Typ Wallis"],"definition":"Die autosomal-rezessive Palmoplantarkeratose mit kongenitaler Alopezie (PPK-CA) ist eine seltene Genodermatose. Neben den beiden namengebenden Symptomen ist die Erkrankung in der Regel mit Katarakt, progredienter Klinodaktylie und Pseudo-Ainhum (Daktylolyse) assoziiert."},"es":{"name":"Queratodermia palmoplantar autosómica recesiva y alopecia congénita","synonyms":["Catarata-alopecia-esclerodactilia","Hiperqueratosis palmoplantar autosómica recesiva y alopecia congénita","PPK-CA tipo Wallis","Queratodermia palmoplantar y alopecia congénita tipo Wallis"],"definition":"La queratodermia palmoplantar y alopecia congénita autosómica recesiva (KPP-AC) es un trastorno genético cutáneo poco frecuente, que se caracteriza por alopecia congénita e hiperqueratosis palmoplantar. Suele asociarse a cataratas, esclerodactilia y pseudo-ainhum."},"it":{"name":"Alopecia congenita e cheratoderma palmoplantare autosomico recessivo","synonyms":["Alopecia congenita e ipercheratosi palmoplantare autosomica recessiva","Cataratta - alopecia - sclerodattilia","Cheratoderma palmoplantare e alopecia congenita, tipo Wallis","PPK-CA, tipo Wallis"],"definition":"L'ipercheratosi palmoplantare autosomica recessiva e l'alopecia congenita (PPK-CA) è una malattia genetica rara della cute, caratterizzata da alopecia congenita ed ipercheratosi palmoplantare. Di solito si associa a cataratta, sclerodattilia progressiva e pseudo-ainhum."},"nl":{"name":"Autosomaal recessieve palmoplantaire keratodermie en congenitale alopecie","synonyms":["Autosomaal recessieve hyperkeratose van handpalm of voetzool en congenitale alopecie","Autosomaal recessieve keratodermie van handpalm of voetzool en congenitale alopecie","Autosomaal recessieve palmoplantaire hyperkeratose en congenitale alopecie","Cataract - alopecie - sclerodactylie-syndroom","PPK-CA, Wallis-type","Palmoplantaire keratodermie en congenitale alopecie, Wallis-type"],"definition":"Autosomaal recessieve palmoplantaire hyperkeratose en congenitale alopecia (PPK-CA) is een zeldzame erfelijke huidaandoening gekenmerkt door aangeboren alopecia en palmoplantaire hyperkeratose. Het gaat gewoonlijk gepaard met cataract, progressieve sclerodactylie en pseudo-ainhum."},"pt":{"name":"Queratodermia palmoplantar autossómica recessiva e alopecia congénita","synonyms":["Síndrome de catarata-alopecia-esclerodactilia"]},"pl":{"name":"Autosomalny recesywny rogowiec dłoni i stóp z łysieniem wrodzonym","synonyms":["Autosomalna recesywna hiperkeratoza dłoni i stóp z łysieniem wrodzonym","PPK-CA, typ Wallisa","Rogowiec dłoni i stóp z łysieniem wrodzonym, typ Wallisa","Zaćma - łysienie - sklerodaktylia"]},"cs":{"name":"Autozomálně recesivní palmoplantární keratoderma a vrozená alopecie","synonyms":["Syndrom zahrnující kataraktu, alopecii a sklerodaktylii","Autozomálně recesivní palmoplantární hyperkeratóza a vrozená alopecie","PPK-CA, Wallisův typ","Palmoplantární keratoderma a vrozená alopecie, Wallisův typ"]},"uk":{"name":"Аутосомно-рецесивна долонно-підошовна кератодермія та вроджена алопеція","synonyms":["Аутосомно-рецесивний долонно-підошовний гіперкератоз і вроджена алопеція","Синдром катаракти-алопеції-склеродактилії","Долонно-підошовна кератодермія та вроджена алопеція за типом Уолліса","PPK-CA, тип Уолліса"],"definition":"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum."},"zh":{"name":"常染色体隐性遗传掌跖角化病与先天性脱发","synonyms":["常染色体隐性遗传掌跖角化病与先天性脱发"]},"tr":{"name":"Otozomal resesif palmoplantar keratoderma ve doğumsal alopesi","synonyms":["PPK-CA, Wallis tipi","Katarakt-alopesi-sklerodaktili sendromu","Palmoplantar keratoderma ve Doğumsal alopesi, Wallis tipi","Otozomal Çekinik palmoplantar hiperkeratoz ve Doğumsal alopesi"]}},"xrefs":[{"source":"OMIM","code":"212360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q84.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1733151457"},{"source":"MONDO","code":"0008923","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535336","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859316","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1139","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"LSS","name":"lanosterol synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35413293[PMID]","hgnc":"6708","ensembl":"ENSG00000160285","omim":"600909","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}