{"orpha":190,"name":"Coats disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital retinal telangiectasia","Leber miliary aneurysm"],"definition":"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-190/","orphanet_url":"https://www.orpha.net/en/disease/detail/190","names":{"fr":{"name":"Maladie de Coats","synonyms":["Anévrisme miliaire de Leber","Télangiectasie rétinienne congénitale"],"definition":"La maladie de Coats (CD) est une maladie idiopathique caractérisée par une télangiectasie rétinienne avec dépôt d'exsudats intra- ou sous-rétiniens, conduisant potentiellement à un décollement de la rétine et à une cécité unilatérale. La CD est classiquement une maladie unilatérale et isolée, qui touche des jeunes enfants autrement sains."},"de":{"name":"Coats-Krankheit","synonyms":["Coats-Retinopathie","Teleangiektasien der Retina, kongenitale"],"definition":"Die Coats-Krankheit (CD) ist eine idiopathische Krankheit mit Teleangiektasie der Retina und Ablagerung von Exudaten in und unter der Retina. Diese Exudate können eine Netzhautablösung und einseitige Erblindung verursachen. Klassisch ist die CD eine isolierte und einseitige Störung von anderweitig gesunden jungen Kindern."},"es":{"name":"Enfermedad de Coats","definition":"La enfermedad de Coats (CD) es un trastorno idiopático que se caracteriza por una telangiectasia retiniana con deposición de exudados intrarretinianos o subrretinianos, que potencialmente conduce a un desprendimiento de retina y a ceguera unilateral. La CD es clásicamente una enfermedad aislada y unilateral que afecta a niños pequeños, por lo demás sanos."},"it":{"name":"Malattia di Coats","synonyms":["Aneurisma miliare di Leber","Telangectasia retinica congenita"],"definition":"La malattia di Coats (CD) è una patologia idiopatica, caratterizzata da telangectasia retinica con deposito di essudati intraretinici o sottoretinici, che possono esitare nel distacco della retina e nellla cecità monolaterale. La CD è tipicamente una malattia isolata e monolaterale, che colpisce i bambini piccoli, che per il resto sono sani."},"nl":{"name":"Ziekte van Coats","synonyms":["Congenitale retinale teleangiëctasie","Miliair aneurysma van Leber"],"definition":"De ziekte van Coats (CD) is een idiopathische aandoening die gekenmerkt wordt door retinale teleangiëctasie met afzetting van intraretinale of subretinale uitscheidingen, wat kan leiden tot netvliesloslating en unilaterale blindheid. CD is klassiek een geïsoleerde en unilaterale aandoening van verder gezonde jonge kinderen."},"pt":{"name":"Doença Coats","synonyms":["Aneurisma miliar de Leber","Telangiectasia retiniana congénita"],"definition":"A doença Coats (DC) é uma doença idiopática caracterizada por telangiectasia retiniana com deposição de exsudados intrarretinianos ou sub-retinianos, podendo levar ao descolamento da retina e à cegueira unilateral. A DC é classicamente uma condição isolada e unilateral que afeta crianças saudáveis."},"pl":{"name":"Choroba Coatsa","synonyms":["Tętniak prosówkowaty Lebera","Wrodzona telangiektazja siatkówki"]},"cs":{"name":"Coatsova nemoc","synonyms":["Vrozená retinální teleangiektázie","Leberovo miliární aneuryzma"]},"uk":{"name":"Хвороба Коатса","synonyms":["Вроджена телеангіектазія сітківки","Міліарна аневризма Лебера"],"definition":"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children."},"zh":{"name":"Coats病","synonyms":["先天性视网膜毛细血管扩张"]},"tr":{"name":"Coats hastalığı","synonyms":["Leber milier anevrizma","Doğumsal retinal telenjiektazi"]}},"xrefs":[{"source":"OMIM","code":"300216","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2032707885"},{"source":"MONDO","code":"0010269","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0154832","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6121","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015901","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":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","classifications":[156]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"NDP","name":"norrin cystine knot growth factor NDP","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301506[PMID]_10484772[PMID]","hgnc":"7678","ensembl":"ENSG00000124479","omim":"300658","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"United Kingdom","status":"Validated","source":"20865031[PMID]_[EXPERT]"},{"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:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null}]}}