{"orpha":2698,"name":"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bart-Pumphrey syndrome","Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome","Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome","Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome"],"definition":"A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2698/","orphanet_url":"https://www.orpha.net/en/disease/detail/2698","names":{"fr":{"name":"Syndrome de nodosités calleuses-leuconychie-surdité-hyperkératose palmoplantaire","synonyms":["Syndrome de Bart-Pumphrey","Syndrome de nodosités calleuses-leuconychie-surdité-kératodermie palmoplantaire"],"definition":"Surdité génétique syndromique rare caractérisée par des nodosités calleuses symétriques ou asymétriques (généralement situées sur les articulations distales et interphalangiennes), une leuconychie, une kératodermie palmoplantaire diffuse et une surdité neurosensorielle congénitale légère à modérée."},"de":{"name":"Knuckle-Pads-Leukonychie-sensorineurale Schwerhörigkeit-palmoplantare Hyperkeratose-Syndrom","synonyms":["Bart-Pumphrey-Syndrom"],"definition":"Eine seltene syndromale Form der genetisch bedingten Schwerhörigkeit, die durch symmetrische oder asymmetrische Knöchelpolster (typischerweise an den distalen und interphalangealen Gelenken), Leukonychien, diffuse Palmoplantarkeratosen und angeborene, leichte bis mittelschwere sensorineurale Taubheit gekennzeichnet ist."},"es":{"name":"Síndrome de almohadillas de nudillo-leuconiquia-sordera neurosensorial-hiperqueratosis palmoplantar","synonyms":["Síndrome de Bart-Pumphrey","Síndrome de nódulos callosos-leuconiquia-hipoacusia neurosensorial-hiperqueratosis palmoplantar","Síndrome de nódulos callosos-leuconiquia-hipoacusia neurosensorial-queratodermia palmoplantar","Síndrome de nódulos callosos-leuconiquia-sordera neurosensorial-queratodermia palmoplantar"],"definition":"Es una enfermedad sindrómica de sordera genética poco frecuente caracterizada por almohadillas de los nudillos simétricas o asimétricas (típicamente localizadas en las articulaciones distal e interfalángica), leuconiquia, queratodermia palmoplantar difusa y sordera neurosensorial congénita de leve a moderada."},"it":{"name":"Sindrome da nocche imbottite, leuconichia, sordità neurosensoriale, ipercheratosi palmoplantare","synonyms":["Sindrome di Bart-Pumphrey","Sindrome nodosità callose-leuconichia-sordità neurosensoriale-cheratoderma palmoplantare"],"definition":"È una sordità sindromica genetica rara, caratterizzata da nocche imbottite simmetriche o asimmetriche (di solito localizzate sulle articolazioni distali e interfalangee), leuconichia, cheratoderma palmoplantare diffuso e sordità neurosensoriale congenita da lieve a moderata."},"nl":{"name":"Knokkelkussens - leukonychie - sensorineurale doofheid - palmoplantaire hyperkeratose-syndroom","synonyms":["Knokkelkussens - leukonychie - sensorineurale doofheid - keratodermie van handpalm of voetzool-syndroom","Knokkelkussens - leukonychie - sensorineurale doofheid - palmoplantaire keratodermie-syndroom","Syndroom van Bart-Pumphrey"],"definition":"Een zeldzame, syndromale, genetische doofheid die gekarakteriseerd wordt door symmetrische of asymmetrische knokkelkussentjes (doorgaans gesitueerd op de distale en interfalangeale gewrichten), leukonychie, diffuse palmoplantaire keratodermie, en congenitaal, mild tot matig sensorineuraal gehoorverlies."},"pt":{"name":"Síndrome de \"knuckle pads\"-leuconiquia-surdez neurossensorial-hiperqueratose palmoplantar","synonyms":["Síndrome Bart-Pumphrey","Síndrome de \"knuckle pads\"-leuconiquia-perda auditiva neurossensorial-hiperqueratose palmoplantar","Síndrome de \"knuckle pads\"-leuconiquia-perda auditiva neurossensorial-queratoderma palmoplantar","Síndrome de \"knuckle pads\"-leuconiquia-surdez neurossensorial-queratoderma palmoplantar"]},"pl":{"name":"Zespół poduszeczki kłykciowe-leukonychia-głuchota czuciowo-nerwowa-rogowiec dłoni i stóp","synonyms":["Zespół Barta i Pumphrey'a","Zespół knuckle pads-leukonychia-głuchota czuciowo-nerwowa-hiperkeratoza dłoni i stóp"]},"cs":{"name":"Syndrom zahrnující kloubní uzlíky, leukonychii, senzorickou hluchotu a palmoplantární hyperkeratózu","synonyms":["Syndrom zahrnující kloubní uzlíky, leukonychii, senzorickou hluchotu a palmoplantární keratoderma","Bartův-Pumphreyův syndrom","Bart-Pumphreyův syndrom"]},"uk":{"name":"Синдром суглобових подушечок - лейконіхії - сенсоневральної глухоти - долонно-підошовного гіперкератозу","synonyms":["Синдром Барта-Памфрі","Синдром суглобових подушечок - лейконіхії - сенсоневральної глухоти - долонно-підошовної кератодермії","Синдром суглобових подушечок - лейконіхії - сенсоневральної приглухуватості - долонно-підошовного гіперкератозу","Синдром суглобових подушечок - лейконіхії -сенсоневральної приглухуватості - долонно-підошовної кератодермії"],"definition":"A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness."},"zh":{"name":"指节垫-白甲病-感音神经性耳聋-掌跖角化病综合征","synonyms":["Bart-Pumphrey综合征"]},"tr":{"name":"Knuckle pads-leukonychia-sensorinöral sağırlık-palmoplantar hiperkeratoz sendromu","synonyms":["Eklem yastıkları-lökoniki-sensorinöral sağırlık-palmoplantar keratoderma sendromu","Eklem yastıkları-lökoniki-sensorinöral işitme kaybı-palmoplantar keratoderma sendromu","Eklem yastıkları-lökoniki-sensorinöral işitme kaybı-palmoplantar hiperkeratoz sendromu","Bart-Pumphrey sendromu"]}},"xrefs":[{"source":"OMIM","code":"149200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1268160252"},{"source":"MONDO","code":"0007866","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266004","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3125","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22421650[PMID]_15952212[PMID]_15482471[PMID]","hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22421650[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-06","source":"22421650[PMID]","terms":[{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032541","label":"Knuckle pad","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001820","label":"Leukonychia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}