{"orpha":705,"name":"Pendred syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Goiter-deafness syndrome","Goiter-hearing loss syndrome"],"definition":"A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-705/","orphanet_url":"https://www.orpha.net/en/disease/detail/705","names":{"fr":{"name":"Syndrome de Pendred","synonyms":["Syndrome de goitre-surdité"],"definition":"Surdité génétique syndromique de présentation clinique variable, caractérisée par une surdité neurosensorielle bilatérale et un goitre euthyroïdien."},"de":{"name":"Pendred-Syndrom","synonyms":["Kropf - Schwerhörigkeit"],"definition":"Eine syndromale, genetisch bedingte Schwerhörigkeit mit variablen klinischen Verlauf, die durch beidseitige Schallempfindung-Schwerhörigkeit und euthyreoter Struma gekennzeichnet ist."},"es":{"name":"Síndrome de Pendred","synonyms":["Síndrome de bocio-hipoacusia","Síndrome de bocio-sordera"],"definition":"Es una sordera genética sindrómica clínicamente variable caracterizada por hipoacusia neurosensorial bilateral y bocio eutiroideo."},"it":{"name":"Sindrome di Pendred","synonyms":["Gozzo - sordità"],"definition":"La sindrome di Pendred (PDS) è una sordità genetica sindromica con un quadro clinico variabile, caratterizzata da sordità neurosensoriale bilaterale e gozzo eutiroideo."},"nl":{"name":"Syndroom van Pendred","synonyms":["Struma - doofheid-syndroom","Struma - gehoorverlies-syndroom"],"definition":"Een syndromale, genetische doofheid die klinisch variabel is en gekarakteriseerd wordt door bilateraal sensorineuraal gehoorverlies en schildkliervergroting (euthyroïde struma)."},"pt":{"name":"Síndrome Pendred","synonyms":["Síndrome de bócio-surdez"]},"pl":{"name":"Zespół Pendreda","synonyms":["Wole-głuchota"]},"cs":{"name":"Pendredův syndrom","synonyms":["Syndrom zahrnující strumu a hluchotu"]},"uk":{"name":"Синдром Пендреда","synonyms":["Синдром зобної глухоти","Синдром зобної приглухуватості"],"definition":"A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter."},"zh":{"name":"Pendred综合征","synonyms":["甲状腺肿-听力丧失综合征"]},"tr":{"name":"Pendred sendromu","synonyms":["Guatr-sağırlık sendromu","Guatr-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"274600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E07.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5A00.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1156056623"},{"source":"MONDO","code":"0010134","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271829","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"FOXI1","name":"forkhead box I1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301640[PMID]","hgnc":"3815","ensembl":"ENSG00000168269","omim":"601093","loci":["5q35.1"]},{"symbol":"KCNJ10","name":"potassium inwardly rectifying channel subfamily J member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301640[PMID]","hgnc":"6256","ensembl":"ENSG00000177807","omim":"602208","loci":["1q23.2"]},{"symbol":"SLC26A4","name":"solute carrier family 26 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301640[PMID]","hgnc":"8818","ensembl":"ENSG00000091137","omim":"605646","loci":["7q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20537182[PMID]","terms":[{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011387","label":"Enlarged vestibular aqueduct","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008586","label":"Hypoplasia of the cochlea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}