{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Nanophthalmos","Nanophthalmia"],"definition":"A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35612/","orphanet_url":"https://www.orpha.net/en/disease/detail/35612","names":{"fr":{"name":"Microphtalmie colobomateuse isolée complète","synonyms":["Nanophtalmie"],"definition":"Maladie ophtalmique rare, forme sévère de microphtalmie (phénotype du petit oeil) caractérisée par un oeil de petite taille et de faible longueur axiale, un fort degré d'hypermétropie, un rapport de volume cristallin/oeil élevé et une fréquence élevée de glaucome par fermeture de l'angle."},"de":{"name":"Isolierte vollständige kolobomatöse Mikrophthalmie","synonyms":["Nanophthalmie","Nanophthalmus"],"definition":"Eine seltene Augenerkrankung und eine schwere Form schwere Form von Mikrophthalmie, die durch ein kleines Auge mit kurzer Achsenlänge, starker Hyperopie, einem erhöhten Linsen/Augen-Verhältnis und einer hohen Inzidenz von Winkelverschlussglaukom gekennzeichnet ist."},"es":{"name":"Microftalmia colobomatosa completa aislada","synonyms":["Nanoftalmia","Nanoftalmos"],"definition":"Es una enfermedad oftalmológica poco frecuente y una forma grave de microftalmia (fenotipo de \"ojo pequeño\") caracterizada por un ojo pequeño con una longitud axial corta, hipermetropía grave, una ratio cristalino/ojo elevada y una alta incidencia de glaucoma de ángulo cerrado."},"it":{"name":"Microftalmia colobomatosa completa isolata","synonyms":["Nanoftalmia","Nanoftalmo"],"definition":"Si tratta di una malattia oculare rara e di una forma grave di microftalmia (occhi di piccole dimensioni), caratterizzata da occhi piccoli con riduzione della lunghezza assiale, iperopia grave, rapporto elevato cristallino/occhio e un'elevata incidenza del glaucoma ad angolo chiuso."},"nl":{"name":"Geïsoleerde complete colobomateuze microftalmie","synonyms":["Nanoftalmie","Nanophthalmos"],"definition":"Een zeldzame oftalmische ziekte en een ernstige vorm van microftalmie (klein oog-fenotype), gekarakteriseerd door een klein oog met een korte axiale lengte, ernstige hyperopie, een verhoogde lens/oog-ratio, en een hoge incidentie van geslotenkamerhoekglaucoom."},"pt":{"name":"Nanoftalmia"},"pl":{"name":"Nanoftalmia","synonyms":["Nanophthalmos","Nanophthalmia"]},"cs":{"name":"Nanoftalmie","synonyms":["Nanophthalmos","Nanophthalmia"]},"uk":{"name":"Нанофтальмос","synonyms":["Наноофтальмія"],"definition":"A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."},"zh":{"name":"真性小眼球","synonyms":["小眼症"]},"tr":{"name":"Nanoftalmus","synonyms":["Nanoftalmi"]}},"xrefs":[{"source":"OMIM","code":"600165","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609549","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611897","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613517","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615972","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA10.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1342802999"},{"source":"MONDO","code":"0005514","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98631,"name":"Congenital malformation of the eye with glaucoma as a major feature","classifications":[147,189]},{"orpha":98938,"name":"Isolated colobomatous microphthalmia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SIX6","name":"SIX homeobox 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10892","ensembl":"ENSG00000184302","omim":"606326","loci":["14q23.1"]},{"symbol":"ALDH1A3","name":"aldehyde dehydrogenase 1 family member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23312594[PMID]","hgnc":"409","ensembl":"ENSG00000184254","omim":"600463","loci":["15q26.3"]},{"symbol":"BEST1","name":"bestrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19375515[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"]},{"symbol":"CRB1","name":"crumbs cell polarity complex component 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19375515[PMID]","hgnc":"2343","ensembl":"ENSG00000134376","omim":"604210","loci":["1q31.3"]},{"symbol":"MFRP","name":"membrane frizzled-related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15976030[PMID]","hgnc":"18121","ensembl":"ENSG00000235718","omim":"606227","loci":["11q23.3"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]},{"symbol":"PRSS56","name":"serine protease 56","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21850159[PMID]","hgnc":"39433","ensembl":"ENSG00000237412","omim":"613858","loci":["2q37.1"]},{"symbol":"RAX","name":"retina and anterior neural fold homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"18662","ensembl":"ENSG00000134438","omim":"601881","loci":["18q21.32"]},{"symbol":"SOX2","name":"SRY-box transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"11195","ensembl":"ENSG00000181449","omim":"184429","loci":["3q26.33"]},{"symbol":"TMEM98","name":"transmembrane protein 98","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24852644[PMID]","hgnc":"24529","ensembl":"ENSG00000006042","omim":"615949","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null}]}}