{"orpha":217059,"name":"Isolated nail clubbing","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital acropachy","Isolated congenital digital clubbing"],"definition":"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217059/","orphanet_url":"https://www.orpha.net/en/disease/detail/217059","names":{"fr":{"name":"Hippocratisme digital isolé","synonyms":["Acropachie isolée congénitale"],"definition":"L'hippocratisme digital congénital isolé est une génodermatose rare caractérisée par une hypertrophie des segments terminaux des doigts et des orteils, avec un épaississement des ongles sans autre anomalie."},"de":{"name":"Trommelschlägelfinger, isolierte","synonyms":["Akropachie, isolierte kongenitale","Isolierte angeborene Trommelschlegelfinger"],"definition":"Die als isolierte Anomalie auftretenden angeborenen Trommelschlegelfinger sind eine seltene Genodermatose mit vergrößerten terminalen Finger- und Zehensegmenten und verdickten Nägeln. Es bestehen keine weiteren Anomalien."},"es":{"name":"Hipocratismo digital aislado","synonyms":["Acropaquia congénita aislada","Hipocratismo digital congénito aislado"],"definition":"El hipocratismo digital aislado congénito es una genodermatosis rara caracterizada por una hipertrofia del segmento terminales de los dedos de manos y pies, con engrosamiento de las uñas sin ninguna otra anomalía."},"it":{"name":"Ippocratismo ungueale isolato","synonyms":["Acropachia congenita isolata","Ippocratismo digitale congenito isolato"],"definition":"L'ippocratismo digitale congenito isolato è una genodermatosi rara, caratterizzata dall'ipetrofia dei segmenti terminali delle dita delle mani e dei piedi, con un ispessimento delle unghie, in assenza di altre anomalie."},"nl":{"name":"Geïsoleerde horlogeglasnagel","synonyms":["Geïsoleerde Hippocrates-nagel","Geïsoleerde congenitale acropachie","Geïsoleerde congenitale trommelstokvingers/-tenen"],"definition":"Een zeldzame genodermatose, gekenmerkt door vergroting van terminale segmenten van vingers en tenen met verdikte nagels, zonder enige andere afwijking."},"pt":{"name":"Baqueteamento das unhas isolado","synonyms":["Acrofaquia isolada congénita","Baqueteamento digital isolado congénito"],"definition":"O baqueteamento digital congénito isolado é uma patologia genodermatosa rara caracterizada pelo alargamento dos segmentos terminais dos dedos das mãos e dos pés com unhas espessadas, sem qualquer outra anomalia."},"pl":{"name":"Izolowane wrodzone palce maczugowate","synonyms":["Izolowana wrodzona akropachia","Izolowane wrodzone paznokcie maczugowate","Izolowane stłoczenie paznokci"]},"cs":{"name":"Vrozené paličkovité prsty","synonyms":["Izolovaná vrozená akropachie","Izolované vrozené paličkovité prsty"]},"uk":{"name":"Ізольовані нігті у вигляді часових скелець","synonyms":["Ізольована вроджена акропатія","Ізольовані вроджені булавовидні пальці"],"definition":"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality."},"zh":{"name":"孤立性先天性杵状指","synonyms":["孤立性先天性杵状指"],"definition":"孤立性先天性杵状指是一种罕见的遗传性皮肤病，其特征是手指和脚趾的末端增大，指甲增厚，无其他异常。"},"tr":{"name":"İzole doğumsal dijital clubbing","synonyms":["İzole doğumsal akropaki","İzole doğumsal çomak parmak"]}},"xrefs":[{"source":"OMIM","code":"119900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB90.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"130631845"},{"source":"MONDO","code":"0007343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345408","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79369,"name":"Isolated nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"HPGD","name":"15-hydroxyprostaglandin dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18805827[PMID]","hgnc":"5154","ensembl":"ENSG00000164120","omim":"601688","loci":["4q34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_24036948[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-09","source":"11466101[PMID]_27681482[PMID]_18805827[PMID]","terms":[{"hpo":"HP:0003549","label":"Abnormality of connective tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001500","label":"Broad finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011300","label":"Broad fingertip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001821","label":"Broad nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001837","label":"Broad toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001795","label":"Hyperconvex nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Excluded (0%)","criteria":null}]}}