{"orpha":86815,"name":"Aplasia of lacrimal and salivary glands","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALSG","Congenital absence of lacrimal puncta and salivary glands"],"definition":"A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86815/","orphanet_url":"https://www.orpha.net/en/disease/detail/86815","names":{"fr":{"name":"Aplasie des glandes salivaires et lacrymales","synonyms":["ALSG","Absence congénitale des glandes salivaires et lacrymales"],"definition":"Maladie autosomique dominante rare caractérisée par une aplasie, une atrésie ou une hypoplasie des glandes lacrymales et salivaires, entraînant dès la petite enfance divers symptômes tels que des infections oculaires récurrentes, une sensibilité oculaire, un larmoiement excessif, une xérostomie, des caries dentaires, une érosion dentaire et une inflammation buccale."},"de":{"name":"Tränen- und Speicheldrüsenaplasie","synonyms":["ALSG-Syndrom","Aplasie der Tränen- und Speicheldrüsen"],"definition":"Die Aplasie der Tränen- und Speicheldrüsen (ALSG) ist eine seltene, autosomal-dominant vererbte Krankheit mit Aplasie, Atresie oder Hypoplasie der Tränen-und Speicheldrüsen. Seit dem Säuglingsalter bestehende Folgen sind rezidivierende Infektionen der Augen, gereizte Augen, Epiphora (Tränenträufeln), trockener Mund, Zahnkaries und -erosion und Infektionen der Mundhöhle."},"es":{"name":"Aplasia de glándulas lagrimales y salivares","definition":"Es un trastorno autosómico dominante poco frecuente caracterizado por aplasia, atresia o hipoplasia de las glándulas lagrimales y salivares, dando lugar a una serie de características variables desde la infancia como, por ejemplo, infecciones oculares recurrentes, irritación ocular, epífora, xerostomía, caries, erosión dental e inflamaciones orales."},"it":{"name":"Aplasia delle ghiandole lacrimali e salivari","synonyms":["ALSG","Assenza congenita dei punti lacrimali e delle ghiandole salivari"],"definition":"L'aplasia delle ghiandole lacrimali e salivari (ALSG) è un difetto raro autosomico dominante caratterizzato da aplasia, atresia o ipoplasia delle ghiandole lacrimali o salivari, che è sintomatico a partire dal periodo neonatale, con infezioni oculari ricorrenti, occhi irritabili, epifora, xerostomia, carie dentali, erosione dentale e infiammazione orale."},"nl":{"name":"Aplasie van traan- en speekselklieren","synonyms":["ALSG","Congenitale afwezigheid van lacrimale puncta en speekselklieren"],"definition":"Een zeldzame, autosomaal dominante aandoening, gekarakteriseerd door aplasie, atresie of hypoplasie van traan- en speekselklieren, wat leidt tot variabele kenmerken vanaf de zuigelingentijd, zoals terugkerende ooginfecties, geïrriteerde ogen, epifora, xerostomie, tandbederf, tanderosie en orale inflammatie."},"pt":{"name":"Aplasia das glândulas salivares e lacrimais"},"pl":{"name":"Aplazja gruczołów łzowych i ślinowych","synonyms":["ALSG","Wrodzony brak punktów łzowych i gruczołów ślinowych"]},"cs":{"name":"Aplázie slzných a slinných žláz","synonyms":["ALSG","Vrozená absence slinných žláz a slzného bodu"]},"uk":{"name":"Аплазія слізних і слинних залоз","synonyms":["ALSG","Вроджена відсутність слізного отвору та слинних залоз"],"definition":"A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation."},"zh":{"name":"泪腺唾液腺发育不全","synonyms":["先天性泪腺唾液腺缺失"]},"tr":{"name":"Gözyaşı ve tükürük bezlerinin aplazisi","synonyms":["ALSG","Lakrimal punkta ve tükrük bezlerinin doğumsal yokluğu"]}},"xrefs":[{"source":"OMIM","code":"180920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q38.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"539255304"},{"source":"MONDO","code":"0008397","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98604,"name":"Congenital alacrima","classifications":[156,189]}],"children":[],"genes":[{"symbol":"FGF10","name":"fibroblast growth factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17213838[PMID]","hgnc":"3666","ensembl":"ENSG00000070193","omim":"602115","loci":["5p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}