{"orpha":1010,"name":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia","PPK-CA, Stevanovic type","Palmoplantar keratoderma and congenital alopecia, Stevanovic type"],"definition":"A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1010/","orphanet_url":"https://www.orpha.net/en/disease/detail/1010","names":{"fr":{"name":"Kératodermie palmoplantaire et alopécie congénitale autosomique dominante","synonyms":["Hyperkératose palmoplantaire et alopécie congénitale autosomique dominante","Hyperkératose palmoplantaire et alopécie congénitale type Stevanovic","KPP-AC type Stevanovic","Kératodermie palmoplantaire et alopécie congénitale type Stevanovic","PPK-CA type Stevanovic"],"definition":"La kératodermie palmoplantaire et alopécie congénitale autosomique dominante (KPP-AC) est une génodermatose rare caractérisée par une alopécie touchant le cuir chevelu et l'intégralité des poils du corps (atrichie généralisée), et par une kératodermie palmoplantaire sans autre complication des mains."},"de":{"name":"Autosomal-dominante Palmoplantarkeratose und kongenitale Alopezie","synonyms":["PPK-CA Typ Stevanovic","PPKCA1","Palmoplantarkeratose und kongenitale Alopezie Typ Stevanovic"],"definition":"Die autosomal-dominante Palmoplantarkeratose mit kongenitaler Alopezie (PPK-CA) ist eine seltene Genodermatose mit fehlender Kopf- und Körperbehaarung und Palmoplantarkeratose, ohne andere Veränderungen an den Händen."},"es":{"name":"Queratodermia palmoplantar autosómica dominante y alopecia congénita","synonyms":["Hiperqueratosis palmoplantar autosómica dominante y alopecia congénita","PPK-CA tipo Stevanovic","Queratodermia palmoplantar y alopecia congénita tipo Stevanovic"],"definition":"Es un trastorno genético de la piel poco frecuente caracterizado por la ausencia de pelo en el cuero cabelludo y en el cuerpo junto a queratodermia palmoplantar, sin otras complicaciones en las manos."},"it":{"name":"Alopecia congenita e cheratoderma palmoplantare autosomico dominante","synonyms":["Alopecia congenita e ipercheratosi palmoplantare autosomica dominante","Cheratoderma palmoplantare e alopecia congenita, tipo Stevanovic","PPK-CA, tipo Stevanovic"],"definition":"Il cheratoderma palmoplantare autosomico dominante con alopecia congenita (PPK-CA) è una malattia genetica rara della cute, caratterizzata dall'assenza dei capelli e dei peli del corpo e da cheratoderma palmoplantare, senza altre complicazioni a livello delle mani."},"nl":{"name":"Autosomaal dominante palmoplantaire keratodermie en congenitale alopecie","synonyms":["Palmoplantaire keratodermie en congenitale alopecie, Stevanovic-type","Autosomaal dominante palmoplantaire hyperkeratose en congenitale alopecie","PPK-CA, Stevanovic-type"],"definition":"Een zeldzame, genetische huidaandoening, gekarakteriseerd door afwezigheid van hoofd- en lichaamsbeharing en door palmoplantaire keratodermie, zonder andere complicaties aan de handen."},"pt":{"name":"Queratodermia palmoplantar autossómica dominante e alopecia congénita","synonyms":["Alopecia congénita-queratodermia palmoplantar"]},"pl":{"name":"Autosomalny dominujący rogowiec dłoni i stóp z łysieniem wrodzonym","synonyms":["Autosomalna dominująca hiperkeratoza dłoni i stóp z łysieniem wrodzonym","Autosomalny dominujący rogowiec dłoni i stóp z łysieniem wrodzonym typu Stevanovica","PPK-CA, typu Stevanovica"]},"cs":{"name":"Autozomálně dominantní palmoplantární keratoderma a vrozená alopecie","synonyms":["Autozomálně dominantní palmoplantární hyperkeratóza a vrozená alopecie","PPKA-CA, Stevanovicův typ","Palmoplantární keratoderma a vrozená alopecie, Stevanovicův typ"]},"uk":{"name":"Аутосомно-домінантна долонно-підошовна кератодерма та вроджена алопеція","synonyms":["Аутосомно-домінантний долонно-підошовний гіперкератоз і вроджена алопеція","Долонно-підошовна кератодермія та вроджена алопеція за типом Стевановича","PPK-CA, тип Стеванович"],"definition":"A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications."},"zh":{"name":"常染色体显性遗传掌跖角化症伴先天性秃发","synonyms":["常染色体显性遗传掌跖角化症伴先天性秃发"]},"tr":{"name":"Otozomal dominant palmoplantar keratoderma ve doğumsal alopesi","synonyms":["PPK-CA, Stevanovic tipi","Palmoplantar keratoderma ve Doğumsal alopesi, Stevanovic tipi","Otozomal dominant palmoplantar hiperkeratoz ve Doğumsal alopesi"]}},"xrefs":[{"source":"OMIM","code":"104100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1745113656"},{"source":"MONDO","code":"0007083","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304669","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"604","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]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25168385[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"]}],"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":"[EXPERT]"},{"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":"2021-12-06","source":"27339777[PMID]_20635335[PMID]","terms":[{"hpo":"HP:0001597","label":"Abnormal nail morphology","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:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010491","label":"Digital constriction ring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004528","label":"Generalized hypotrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011838","label":"Sclerodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002298","label":"Absent hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100018","label":"Nuclear cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031057","label":"Skin fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009900","label":"Unilateral deafness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}