{"orpha":98976,"name":"Congenital glaucoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Buphthalmia","Buphthalmos","Buphthalmus","Primary congenital glaucoma"],"definition":"A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98976/","orphanet_url":"https://www.orpha.net/en/disease/detail/98976","names":{"fr":{"name":"Glaucome congénital","synonyms":["Buphtalmie","Glaucome congénital primaire","Glaucome congénital primitif"],"definition":"Maladie ophtalmique rare caractérisée par une pression intra-oculaire élevée. Sur le plan clinique, on observe une augmentation du volume oculaire souvent associée à un oedème cornéen."},"de":{"name":"Glaukom, kongenitales","synonyms":["Buphthalmie","Buphthalmus","Primäres kongenitales Glaukom"],"definition":"Eine seltene Augenerkrankung, die durch einen erhöhten Augeninnendruck gekennzeichnet ist. Die klinische Präsentation geht häufig mit einer Vergrößerung des Auges und einem Hornhautödem einher."},"es":{"name":"Glaucoma congénito","synonyms":["Buftalmia","Buftalmos","Glaucoma congénito primario"],"definition":"Es un trastorno oftálmico poco frecuente que se caracteriza por una elevada presión intraocular. La presentación clínica suele asociar un aumento del tamaño del ojo, así como edema corneal."},"it":{"name":"Glaucoma congenito","synonyms":["Buftalmo","Glaucoma congenito primitivo"],"definition":"Il glaucoma congenito (GC) è una malattia oculare rara, caratterizzata da un'elevata pressione intraoculare. Spesso si associa a un ingrossamento dell'occhio e all'edema della cornea."},"nl":{"name":"Congenitaal glaucoom","synonyms":["Buftalmie","Buphthalmos","Primair congenitaal glaucoom"],"definition":"Een zeldzame oftalmische aandoening, gekarakteriseerd door verhoogde intraoculaire druk. De klinische presentatie associeert vaak een vergrote omvang van oog, alsook corneaoedeem."},"pt":{"name":"Glaucoma congénito"},"pl":{"name":"Jaskra wrodzona","synonyms":["Pierwotna jaskra wrodzona","Woloocze"]},"cs":{"name":"Vrozený glaukom","synonyms":["Buftalmie","Buftalmos","Buftalmus","Primární vrozený glaukom"]},"uk":{"name":"Вроджена глаукома","synonyms":["Буфтальмія","Буфтальмос","Буфтальм","Первинна вроджена глаукома"],"definition":"A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema."},"zh":{"name":"先天性青光眼","synonyms":["原发性先天性青光眼"],"definition":"该病是一种罕见的眼科疾病，特征是眼压升高。临床表现与眼睛大小增加和角膜水肿程度有关。"},"tr":{"name":"Doğumsal glokom","synonyms":["Buftalmi","Buftalmi","Buftalmus","Primer doğumsal glokom"]}},"xrefs":[{"source":"OMIM","code":"231300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600975","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613085","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613086","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617272","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9C61.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"517092878"},{"source":"UMLS","code":"C0020302","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2485","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98941,"name":"OBSOLETE: Von Hippel anomaly","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":156005,"name":"Primary early-onset glaucoma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"TEK","name":"TEK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27270174[PMID]","hgnc":"11724","ensembl":"ENSG00000120156","omim":"600221","loci":["9p21.2"]},{"symbol":"CYP1B1","name":"cytochrome P450 family 1 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21730848[PMID]","hgnc":"2597","ensembl":"ENSG00000138061","omim":"601771","loci":["2p22.2"]},{"symbol":"LTBP2","name":"latent transforming growth factor beta binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19361779[PMID]","hgnc":"6715","ensembl":"ENSG00000119681","omim":"602091","loci":["14q24.3"]},{"symbol":"MYOC","name":"myocilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21730848[PMID]_15733270[PMID]_21168818[PMID]","hgnc":"7610","ensembl":"ENSG00000034971","omim":"601652","loci":["1q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.6,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.6,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2004[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-25","source":"20301314[PMID]_31920449[PMID]_34662067[PMID]","terms":[{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011490","label":"Abnormal Descemet membrane morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007765","label":"Deep anterior chamber","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001089","label":"Iris atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025751","label":"Reduced anterior scleral thickness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100693","label":"Iridodonesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}