{"orpha":79501,"name":"Punctate palmoplantar keratoderma type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Buschke-Fischer-Brauer syndrome","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type","PPKP1"],"definition":"A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79501/","orphanet_url":"https://www.orpha.net/en/disease/detail/79501","names":{"fr":{"name":"Kératodermie palmoplantaire ponctuée type 1","synonyms":["Syndrome de Buschke-Fischer-Brauer","KPPP1","PPKP1"],"definition":"Maladie héréditaire rare de la peau caractérisée par une hyperkératose épidermique papuleuse/ponctuée irrégulièrement répartie sur la paume des mains et la plante des pieds, variant considérablement d'un patient à l'autre."},"de":{"name":"Palmoplantarkeratose, punktierte, Typ I","synonyms":["Buschke-Fischer-Brauer-Syndrom","PPKP1"],"definition":"Eine seltene erbliche Hauterkrankung, die durch eine unregelmäßig verteilte epidermale papulöse/punktförmige Hyperkeratose der Handflächen und Fußsohlen gekennzeichnet ist und von Patient zu Patient stark variiert."},"es":{"name":"Queratodermia palmoplantar punctata tipo 1","synonyms":["PPKP1","Queratodermia palmoplantar papulosa tipo Buschke-Fischer-Brauer","Síndrome de Buschke-Fischer-Brauer"],"definition":"Es una enfermedad cutánea hereditaria poco frecuente caracterizada por hiperqueratosis epidérmica papular/puntiforme de distribución irregular en las palmas de las manos y las plantas de los pies con una amplia variabilidad entre pacientes."},"it":{"name":"Cheratoderma palmoplantare puntato tipo 1","synonyms":["Cheratoderma palmoplantare papuloso, tipo Buschke-Fischer-Brauer","PPKP1","Sindrome di Buschke-Fischer-Brauer"],"definition":"Il cheratoderma palmoplantare puntato tipo 1 (PPKP1), noto anche come sindrome di Buschke-Fischer-Brauer, è una malattia cutanea ereditaria molto rara, caratterizzata da ipercheratosi dell'epidermide del palmo delle mani e della pianta dei piedi con distribuzione irregolare. La malattia varia molto da paziente a paziente."},"nl":{"name":"Puntvormige palmoplantaire keratodermie type 1","synonyms":["Keratoderma palmoplantaris punctata type 1","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer-type","PPKP1","Syndroom van Buschke-Fischer-Brauer"],"definition":"Een zeldzame erfelijke aandoening van huid, gekenmerkt door onregelmatig verdeelde papuleuze/puntvormige epidermale hyperkeratose van handpalm en voetzool met grote variatie tussen patiënten."},"pt":{"name":"Queratodermia palmoplantar punctiforme tipo 1","synonyms":["PPKP1","Síndrome Buschke-Fischer-Brauer"],"definition":"Doença cutânea hereditária rara caracterizada por hiperqueratose epidérmica papular/pontiforme distribuída irregularmente nas palmas das mãos e plantas dos pés, com ampla variação entre os doentes."},"pl":{"name":"Punktowy rogowiec dłoniowo-podeszwowy typu 1","synonyms":["Pęcherzykowy rogowiec dłoni i stóp, typ Buschke, Fischera i Brauera","PPKP1","Zespół Buschke, Fischera i Brauera"]},"cs":{"name":"Keratoderma palmoplantaris punctata, typ 1","synonyms":["PPKP1","Buschkeho-Fischerův-Brauerův syndrom","Keratodermia palmoplantaris papulosa, Buschkeho-Fischerův-Brauerův typ","Buschke-Fischer-Brauerův syndrom","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauerův typ"]},"uk":{"name":"Точкова долонно-підошовна кератодермія, тип 1","synonyms":["Синдром Бушке-Фішера-Брауера","Папульозна кератодермія долонь, тип Бушке-Фішера-Брауера","PPKP1"],"definition":"A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients."},"zh":{"name":"点状掌跖角皮病1型","synonyms":["点状掌跖角皮病，Buschke-Fischer-Brauer型"]},"tr":{"name":"Punktat palmoplantar keratoderma tip 1","synonyms":["PPKP1","Buschke-Fischer-Brauer sendromu","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer tipi"]}},"xrefs":[{"source":"OMIM","code":"148600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614936","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1314778844"},{"source":"MONDO","code":"0019332","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3103","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":2338,"name":"Isolated punctate palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"COL14A1","name":"collagen type XIV alpha 1 chain","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22972947[PMID]","hgnc":"2191","ensembl":"ENSG00000187955","omim":"120324","loci":["8q24.12"]},{"symbol":"AAGAB","name":"alpha and gamma adaptin binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23000146[PMID]_23064416[PMID]","hgnc":"25662","ensembl":"ENSG00000103591","omim":"614888","loci":["15q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":437.0,"area":"Worldwide","status":"Validated","source":"34535911[PMID]_EXPERT"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.17,"area":"Croatia","status":"Validated","source":"8349860[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Slovenia","status":"Validated","source":"19784524[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.22,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-27","source":"26608363[PMID]_23064416[PMID]_31762743[PMID]_31526046[PMID]","terms":[{"hpo":"HP:0011124","label":"Abnormality of epidermal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","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:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025114","label":"Hypergranulosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040162","label":"Orthokeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012500","label":"Verrucous papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040274","label":"Adenocarcinoma of the small intestine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Very rare (<4-1%)","criteria":null}]}}