{"orpha":88620,"name":"Isolated congenital anosmia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88620/","orphanet_url":"https://www.orpha.net/en/disease/detail/88620","names":{"fr":{"name":"Anosmie congénitale isolée","definition":"Maladie otorhinolaryngologique rare caractérisée par une anosmie totale ou partielle à la naissance. L'anosmie est due à un défaut de développement des bulbes olfactifs ou au remplacement de l'épithélium olfactif par de l'épithélium respiratoire. Une anosmie congénitale isolée est observée chez certains parents de personnes atteintes du syndrome de Kallman."},"de":{"name":"Anosmie, isolierte kongenitale","definition":"Eine seltene otorhinolaryngologische Erkrankung, die durch eine vollständige oder teilweise Anosmie bei der Geburt gekennzeichnet ist. Ursache der Anosmie ist eine gestörte Entwicklung des Bulbus olfactorius oder ein Ersatz der Riechschlaumhaut durch Atemwegs-Epithel. Eine isolierte kongenitale Anosmie wird bei einigen Eltern von Personen mit Kallmann-Syndrom gefunden."},"es":{"name":"Anosmia congénita aislada","definition":"Es una enfermedad otorrinolaringológica poco frecuente caracterizada por anosmia total o parcial al nacimiento. La anosmia se produce por un defecto del desarrollo de los bulbos olfatorios o por sustitución del epitelio olfatorio por epitelio respiratorio. La anosmia congénita aislada se ha descrito en algunos padres de pacientes con el síndrome de Kallman."},"it":{"name":"Anosmia congenita isolata"},"nl":{"name":"Geïsoleerde congenitale anosmie","definition":"Een syndroom, gekenmerkt door volledige of gedeeltelijke anosmie bij de geboorte. Tot op heden werden 15 patiënten beschreven. De anosmie wordt veroorzaakt door een defect in de ontwikkeling van bulbus olfactorius (reukkolf) of door vervanging van reukepitheel door respiratoir epitheel. Transmissie lijkt autosomaal dominant te gebeuren, met onvolledige penetrantie. Geïsoleerde congenitale anosmie wordt aangetroffen bij sommige ouders van individuen met syndroom van Kallmann."},"pt":{"name":"Anosmia congénita isolada"},"pl":{"name":"Izolowana wrodzona anosmia"},"cs":{"name":"Izolovaná vrozená anosmie"},"uk":{"name":"Ізольована вроджена аносмія","definition":"A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome."},"zh":{"name":"孤立型先天性失嗅"},"tr":{"name":"İzole doğumsal anozmi"}},"xrefs":[{"source":"OMIM","code":"107200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CA0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1603572540"},{"source":"MONDO","code":"0007137","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535983","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393778","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079876","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":466084,"name":"Genetic otorhinolaryngologic disease","classifications":[156]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]}],"children":[],"genes":[{"symbol":"CNGA2","name":"cyclic nucleotide gated channel subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25156905[PMID]","hgnc":"2149","ensembl":"ENSG00000183862","omim":"300338","loci":["Xq28"]},{"symbol":"TENM1","name":"teneurin transmembrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27040985[PMID]","hgnc":"8117","ensembl":"ENSG00000009694","omim":"300588","loci":["Xq25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}