{"orpha":91416,"name":"Isolated congenital alacrima","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91416/","orphanet_url":"https://www.orpha.net/en/disease/detail/91416","names":{"fr":{"name":"Alacrymie congénitale isolée","definition":"L'alacrymie congénitale est caractérisée par un défaut lacrymal présent dès la naissance, allant d'une absence complète de larmes à une hyposécrétion lacrymale."},"de":{"name":"Alakrimie, isolierte kongenitale","definition":"Die Kongenitale Alakrimie ist gekennzeichnet durch verminderten bis völlig fehlenden Tränenfluss. Die Anomalie besteht bereits bei Geburt."},"es":{"name":"Alacrima congénita aislada","definition":"La alácrima congénita se caracteriza por un lagrimeo deficiente (que va desde la ausencia total de lágrimas hasta la hiposecreción de lágrimas) que está presente desde el nacimiento."},"it":{"name":"Alacrimia congenita isolata"},"nl":{"name":"Geïsoleerde congenitale alacrimie","definition":"Congenitale alacrimie wordt gekenmerkt door deficiënte lacrimatie (gaande van volledige afwezigheid van tranen tot hyposecretie van tranen) die aanwezig is vanaf de geboorte."},"pt":{"name":"Alacrimia isolada congénita"},"pl":{"name":"Izolowany wrodzony brak łez"},"cs":{"name":"Izolovaná vrozená alakrimie"},"uk":{"name":"Ізольована вроджена алакрима","definition":"Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth."},"zh":{"name":"孤立型先天性无泪症"},"tr":{"name":"İzole Doğumsal alakrima"}},"xrefs":[{"source":"OMIM","code":"103420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601549","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98604,"name":"Congenital alacrima","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-25","source":"8740696[PMID]_1815166[PMID]_962658[PMID]","terms":[{"hpo":"HP:0000522","label":"Alacrima","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007732","label":"Lacrimal gland hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007820","label":"Lacrimal punctal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002571","label":"Achalasia","frequency":"Excluded (0%)","criteria":null}]}}