{"orpha":313838,"name":"Coats plus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CRMCC","Cerebroretinal microangiopathy with calcifications and cysts"],"definition":"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313838/","orphanet_url":"https://www.orpha.net/en/disease/detail/313838","names":{"fr":{"name":"Syndrome de Coats-plus","synonyms":["CRMCC","Microangiopathie cérébro-rétinienne avec calcifications et kystes"],"definition":"Maladie multisystémique pléiotrope caractérisée par des télangiectasies et des exsudats rétiniens, une calcification intracrânienne avec leucoencéphalopathie et kystes cérébraux, une ostéopénie avec prédisposition aux fractures, une myélosuppression, des hémorragies gastro-intestinales et une hypertension portale. Le mode de transmission est autosomique récessif."},"de":{"name":"Coats plus-Syndrom","synonyms":["CRMCC","Zerebroretinale Mikroangiopathie mit Verkalkungen und Zysten"]},"es":{"name":"Síndrome de Coats plus","synonyms":["CRMCC","Microangiopatía cerebrorretiniana con calcificaciones y quistes"],"definition":"El síndrome de Coats plus es un trastorno pleiotrópico multisistémico caracterizado por telangiectasias y exudados retinianos, calcificación intracraneal con leucoencefalopatía y quistes cerebrales, osteopenia con predisposición a fracturas, aplasia medular, hemorragia gastrointestinal e hipertensión portal. El modo de transmisión es autosómico recesivo."},"it":{"name":"Sindrome di Coats plus","synonyms":["CRMCC","Microangiopatia cerebroretinica con calcificazioni e cisti"]},"nl":{"name":"Coats-plus-syndroom","synonyms":["CRMCC","Cerebroretinale micro-angiopathie met verkalking en cysten"],"definition":"Coats-plus-syndroom is een pleiotrofe multisystemische aandoening die wordt gekarakteriseerd door retinale teleangiëctasie en uitscheiding van wondvocht, intracraniale verkalking met leuko-encefalopathie en hersencysten, osteopenie met aanleg voor breuken, onderdrukking van het beenmerg, gastro-intestinale bloedingen en portale hypertensie. Overerving van de ziekte gebeurt op een autosomaal recessieve manier."},"pt":{"name":"Síndrome de Coats-plus","synonyms":["CRMCC","Microangiopatia cerebroretiniana com calcificações e cistos"]},"pl":{"name":"Zespół Coatsa plus","synonyms":["CRMCC","Mikroangiopatia mózgowo-siatkówkowa ze zwapnieniami i torbielami"]},"cs":{"name":"Coatsův syndrom plus","synonyms":["CRMCC","Cerebroretinální mikroangiopatie s kalcifikacemi a cystami"]},"uk":{"name":"Синдром Коатса плюс","synonyms":["Цереброретинальна мікроангіопатія з кальцифікатами та кістами","CRMCC"],"definition":"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease."},"zh":{"name":"Coats plus综合征","synonyms":["脑视网膜微血管病伴钙化和囊肿"],"definition":"Coats-plus综合征是一种多系统疾病，其特征是视网膜毛细血管扩张和渗出，颅内钙化伴白质脑病和脑囊肿，骨质疏松易骨折，骨髓抑制，胃肠道出血和门脉高压。它是一种常染色体隐性遗传病。"},"tr":{"name":"Coats artı sendromu","synonyms":["CRMCC","Kalsifikasyon ve kistler ile seyreden serebroretinal mikroanjiyopati"]}},"xrefs":[{"source":"OMIM","code":"612199","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617341","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012815","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677299","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]},{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"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]}],"children":[],"genes":[{"symbol":"STN1","name":"STN1 subunit of CST complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25957586[PMID]","hgnc":"26200","ensembl":"ENSG00000107960","omim":"613128","loci":["10q24.33"]},{"symbol":"CTC1","name":"CST telomere replication complex component 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22267198[PMID]","hgnc":"26169","ensembl":"ENSG00000178971","omim":"613129","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}