{"orpha":79499,"name":"Autosomal dominant deafness-onychodystrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant hearing loss-onychodystrophy syndrome","DDOD syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79499/","orphanet_url":"https://www.orpha.net/en/disease/detail/79499","names":{"fr":{"name":"Syndrome de surdité-onychodystrophie autosomique dominant","synonyms":["Syndrome DDOD"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par un déficit auditif congénital, l'absence ou l'hypoplasie des ongles des doigts et des orteils et des phalanges distales."},"de":{"name":"Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes","synonyms":["DDOD-Syndrom"],"definition":"Ein kongenitales Syndrom mit multiplen Anomalien, das durch angeborene Schwerhörigkeit, kleine oder fehlende Nägel an Händen und Füßen und kleine oder fehlende Fingerendglieder gekennzeichnet ist."},"es":{"name":"Síndrome de sordera-onicodistrofia autosómica dominante","synonyms":["Síndrome DDOD","Síndrome de hipoacusia-onicodistrofia autosómica dominante"],"definition":"Es un síndrome de múltiples anomalías congénitas poco frecuentes caracterizado por deficiencia auditiva congénita, uñas pequeñas o ausentes en las manos y en los pies y falanges terminales ausentes."},"it":{"name":"Sindrome sordità-onicodistrofia, autosomica dominante","synonyms":["Sindrome DDOD"],"definition":"La sindrome sordità-onicodistrofia autosomica dominante (DDOD) è una malattia rara da anomalie congenite multiple, caratterizzata da sordità congenita e ipoplasia o aplasia delle unghie delle mani e dei piedi e falangi terminali ipoplastiche o assenti."},"nl":{"name":"Austosomaal dominant doofheid - onychodystrofie-syndroom","synonyms":["DDOD-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door congenitale slechthorendheid, kleine of afwezige nagels aan handen en voeten, en kleine of afwezige terminale falangen."},"pt":{"name":"Surdez-onicodistrofia autossómica dominante"},"pl":{"name":"Zepół autosomalnie dominującej głuchoty i onychodystrofii","synonyms":["Zespół DDOD"]},"cs":{"name":"Autozomálně dominantní syndrom zahrnující hluchotu a onychodystrofii","synonyms":["DDOD syndrom"]},"uk":{"name":"Аутосомно-домінантний синдром глухоти-оніходистрофії","synonyms":["Синдром аутосомно-домінантної приглухуватості-оніходистрофії","Синдром DDOD"],"definition":"A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges."},"zh":{"name":"常染色体显性耳聋-指甲营养不良综合征","synonyms":["常染色体显性遗传性听力丧失-甲营养不良综合征"]},"tr":{"name":"Otozomal dominant sağırlık-onikodistrofi sendromu","synonyms":["DDOD sendromu","Otozomal dominant işitme kaybı onikodistrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"124480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1712445563"},{"source":"MONDO","code":"0007420","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567274","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675730","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3231,"name":"Deafness-onychodystrophy syndrome","classifications":[147,156,181,187,189,200]}],"children":[],"genes":[{"symbol":"ATP6V1B2","name":"ATPase H+ transporting V1 subunit B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24913193[PMID]","hgnc":"854","ensembl":"ENSG00000147416","omim":"606939","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"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":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-18","source":"24421866[PMID]_24913193[PMID]_28396750[PMID]_21998865[PMID]","terms":[{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200104","label":"Absent fifth fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012554","label":"Absent thumbnail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200141","label":"Small, conical teeth","frequency":"Occasional (29-5%)","criteria":null}]}}