{"orpha":98944,"name":"Coloboma of iris","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98944/","orphanet_url":"https://www.orpha.net/en/disease/detail/98944","names":{"fr":{"name":"Colobome de l'iris","synonyms":["Colobome irien"],"definition":"Anomalie rare du développement de l'oeil, d'origine génétique, caractérisée par une fente, une ouverture, un creux ou une fissure unilatéral(e) ou bilatéral(e), généralement situé(e) dans le quadrant nasal inférieur de l'oeil. Affectant uniquement l'épithélium pigmentaire ou le stroma de l'iris (colobome incomplet) ou les deux (colobome complet), l'anomalie se manifeste par une forme inhabituelle de l'iris (par exemple, en « trou de serrure » ou pupille ovale) et/ou une photophobie. Une association avec des colobomes affectant d'autres parties de l'oeil (corps ciliaire, zonule, choroïde, rétine, nerf optique) et avec des syndromes de malformations complexes (comme le syndrome CHARGE) peut être observée."},"de":{"name":"Iriskolobom","definition":"Ein seltener, genetisch bedingter Entwicklungsdefekt des Auges, der durch eine ein- oder beidseitige Kerbe, Lücke, ein Loch oder eine Spalte gekennzeichnet ist, die sich typischerweise im inferonasalen Quadranten des Auges befindet und nur das Pigmentepithel oder das Irisstroma (unvollständig) oder beide (vollständig) betrifft und sich durch Anomalien der Irisform (z. B. \"Schlüsselloch\" oder ovale Pupille) und/oder Photophobie äußert. Eine Assoziation mit Kolobomata in anderen Teilen des Auges (einschließlich Ziliarkörper, Zonula, Aderhaut, Netzhaut, Sehnerv) und komplexen Fehlbildungen (wie dem CHARGE-Syndrom) kann beobachtet werden."},"es":{"name":"Coloboma de iris","definition":"Es un defecto del desarrollo ocular de origen genético y poco frecuente caracterizado por una hendidura, brecha, depresión o fisura, uni- o bilateral, por lo general localizado en el cuadrante inferonasal del globo ocular. Puede afectar únicamente al epitelio pigmentario o al estroma del iris (incompleto), o a ambos (completo). Se manifiesta con anomalías en la forma del iris (p. ej. pupila en \"ojo de cerradura\" u ovalada) y/o fotofobia. Puede observarse asociación con coloboma en otras regiones oculares (incluyendo el cuerpo ciliar, la zónula, la coroides, la retina o el nervio óptico) y con síndromes malformativos complejos (tales como el síndrome CHARGE)."},"it":{"name":"Coloboma dell'iride","definition":"È difetto genetico raro dello sviluppo dell'occhio, caratterizzato dalla presenza mono- o bilaterale di una schisi, un gap o un foro, di solito localizzato nel quadrante inferonasale dell'occhio, che interessa solo l'epitelio pigmentato o lo stroma dell'iride (coloboma incompleto), oppure entrambi (coloboma completo). Esordisce con anomalie morfologiche dell'iride (ad es. pupilla ''a serratura'' o ovale) e/o fotofobia. Può associarsi a colobomi di altre parti dell'occhio (corpo ciliare, zonula, coroide, retina, nervo ottico) e a sindromi malformative complesse (come la sindrome CHARGE)."},"nl":{"name":"Coloboom van iris","synonyms":["Iriscoloboom"],"definition":"Een zeldzaam, genetisch ontwikkelingsdefect van het oog, dat gekarakteriseerd wordt door een uni- of bilaterale spleet, opening, deuk of kloof, doorgaans gesitueerd in het inferonasale kwadrant van het oog en met betrokkenheid van enkel het pigmentepitheel of het stroma van de iris (onvolledig) of beide (volledig), en dat zich manifesteert met anomalieën van de vorm van de iris (e.g. \"sleutelgat\" of ovale pupil) en/of fotofobie. Associatie met colobomen in andere delen van het oog (waaronder straallichaam, zonula, vaatvlies, netvlies, oogzenuw) en complexe malformatiesyndromen (zoals CHARGE-syndroom) kan waargenomen worden."},"pt":{"name":"Coloboma da íris"},"pl":{"name":"Szczelina tęczówki"},"cs":{"name":"Kolobom duhovky"},"uk":{"name":"Колобома райдужки","definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed."},"zh":{"name":"虹膜缺损","definition":"该病是一种罕见的遗传性发育缺陷，其特征为单侧或双侧凹槽、缝隙、孔洞或裂隙，通常位于眼睛的下鼻侧象限，仅涉及色素上皮或虹膜基质(不完全性)，或同时涉及两者(完全性)，表现为虹膜形状异常(如“钥匙孔”或椭圆形瞳孔)和/或畏光。还可观察到与眼睛其他部位缺损(例如，睫状体、睫状带、脉络膜、视网膜、视神经)和复杂畸形综合征(如Charge综合征)相关。"},"tr":{"name":"İris kolobomu"}},"xrefs":[{"source":"OMIM","code":"120200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620731","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA11.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1552972259"},{"source":"MONDO","code":"0020356","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266551","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1434","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052642","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FZD5","name":"frizzled class receptor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26908622[PMID]","hgnc":"4043","ensembl":"ENSG00000163251","omim":"601723","loci":["2q33.3"]},{"symbol":"SALL2","name":"spalt like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24412933[PMID]","hgnc":"10526","ensembl":"ENSG00000165821","omim":"602219","loci":["14q11.2"]},{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22226084[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]},{"symbol":"ACTG1","name":"actin gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28493397[PMID]","hgnc":"144","ensembl":"ENSG00000184009","omim":"102560","loci":["17q25.3"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12721955[PMID]_16604056[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}