{"orpha":1473,"name":"Uveal coloboma-cleft lip and palate-intellectual disability","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1473/","orphanet_url":"https://www.orpha.net/en/disease/detail/1473","names":{"fr":{"name":"Syndrome de colobome-fente labiopalatine-déficience intellectuelle","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, génétique, caractérisé par un colobome uvéal (généralement bilatéral) associé de manière inconstante à une fente labiale, palatine et/ou uvulaire, à une déficience auditive et à une déficience intellectuelle. Le spectre de l'atteinte oculaire est également inconstant et comprend le colobome de l'iris affectant la choroïde, le disque et/ou la macula, la microphtalmie, la cataracte et l'altération des muscles extra-oculaires."},"de":{"name":"Uvea-Kolobom mit Lippen-Kiefer-Gaumenspalte und Intelligenzminderung","definition":"Ein seltenes, genetisch bedingtes, kongenitales Dysmorphie-Syndrom mit multiplen Anomalien, das eine starke variable klinische Ausprägung ausweist. Es ist gekennzeichnet durch ein Aderhautkolobom (typischerweise beidseitig), das mit weiteren Anomalien (Lippen-, Gaumen- und/oder Zäpfchenspalten, Hörstörungen und Intelligenzminderung) einhergehen kann. Das Spektrum der Augenbeteiligung ist ebenfalls variabel und umfasst ein Iris-Kolobom (das sich auf die Aderhaut, die Papille und/oder die Makula ausdehnt), Mikrophthalmus, Katarakt und extraokulare Bewegungsstörungen."},"es":{"name":"Coloboma uveal-fisura labiopalatina-discapacidad intelectual","definition":"Es un síndrome dismórfico con múltiples anomalías congénitas, de origen genético, y poco frecuente. Se caracteriza por coloboma uveal (típicamente bilateral) asociado de forma variable a labio leporino, fisura palatina y/o úvula; deficiencia auditiva; y discapacidad intelectual. El espectro de afectación ocular también es variable, e incluye coloboma de iris que se extiende hasta la coroides, el disco y/o la mácula; microftalmia; catarata; y alteración del movimiento extraocular."},"it":{"name":"Coloboma dell'uvea-labiopalatoschisi-disabilità intellettiva","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da coloboma dell'uvea (di solito bilaterale), variabilmente associato a labioschisi, palatoschisi e/o schisi dell'ugola, compromissione dell'udito e disabilità intellettiva. Anche l'interessamento oculare è variabile e comprende il coloboma dell'iride che si estende alla coroide, al disco e/o alla macula, la microftalmia, la cataratta e la compromissione dei movimenti extraoculari."},"nl":{"name":"Coloboom van uvea - gespleten lip en gehemelte - intellectuele achterstand","definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door coloboom van de uvea (typisch bilateraal) variabel geassocieerd met gespleten lip, verhemelte en/of huig, slechthorendheid, en intellectuele beperking. Het spectrum van betrokkenheid van het oog is ook variabel en omvat coloboom van de iris met uitbreiding naar vaatvlies, papil, en/of macula, microftalmie, cataract, en extraoculaire bewegingsstoornis."},"pt":{"name":"Coloboma uveal-fenda lábio-palatina-perturbação do desenvolvimento intelectual"},"pl":{"name":"Szczelina błony naczyniowej - rozszczep wargi i podniebienia - niepełnosprawność intelektualna"},"cs":{"name":"Syndrom zahrnující kolobom uvey, rozštěp patra a rtu a mentální retardaci"},"uk":{"name":"Колобома хоріоідеї - розщілина губи та піднебіння - розумова відсталість","definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment."},"zh":{"name":"葡萄膜缺损-唇腭裂-智力障碍三联征"},"tr":{"name":"Uveal koloboma-yarık dudak ve damak-zihinsel yetersizlik"}},"xrefs":[{"source":"OMIM","code":"120433","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1075244497"},{"source":"MONDO","code":"0007355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305003","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1440","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"YAP1","name":"Yes1 associated transcriptional regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24462371[PMID]","hgnc":"16262","ensembl":"ENSG00000137693","omim":"606608","loci":["11q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"24462371[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}