{"orpha":3018,"name":"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Rambaud-Gallian syndrome","Rambaud-Gallian-Touchard syndrome"],"definition":"A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3018/","orphanet_url":"https://www.orpha.net/en/disease/detail/3018","names":{"fr":{"name":"Syndrome de rétinopathie ischémique-hyalinose digestive-calcifications cérébrales diffuses","synonyms":["Syndrome de Rambaud-Gallian","Syndrome de Rambaud-Gallian-Touchard"],"definition":"Maladie systémique rare caractérisée par une hyalinose progressive affectant les capillaires, les artérioles et les petites veines du tube digestif, des reins et de la rétine, associée à des calcifications cérébrales idiopathiques, se manifestant par une diarrhée sévère (avec hémorragie rectale et malabsorption), une néphropathie (avec insuffisance rénale et hypertension systémique), une cicatrice choriorétinienne et une hémorragie au niveau des espaces sous-arachnoïdiens. Une poïkilodermie et un grisonnement prématuré des cheveux peuvent également être observés."},"de":{"name":"Retinales Ischämiesyndrom mit Hyalinose kleiner Gefäße des Verdauungstraktes und diffuser Hirn-Verkalkung","synonyms":["Rambaud-Galian-Syndrom","Rambaud-Gallian-Touchard-Syndrom"],"definition":"Eine seltene Systemerkrankung, die durch eine fortschreitende Hyalinose mit Beteiligung von Kapillaren, Arteriolen und kleinen Venen des Verdauungstrakts, der Nieren und der Netzhaut gekennzeichnet ist und mit idiopathischen zerebralen Verkalkungen einhergeht. Sie äußert sich in schweren Durchfällen (mit rektalen Blutungen und Malabsorption), Nephropathie (mit Nierenversagen und systemischem Bluthochdruck), chorioretinalen Vernarbungen und Subarachnoidalblutungen. Zusätzlich können Poikilodermie und vorzeitiges Ergrauen der Haare beobachtet werden."},"es":{"name":"Síndrome de isquemia retiniana-hialinosis de los vasos pequeños del tracto digestivo-calcificaciones cerebrales difusas","synonyms":["Síndrome de Rambaud-Gallian","Síndrome de Rambaud-Gallian-Touchard"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por hialinosis progresiva que afecta a los capilares, arteriolas y pequeñas venas del tracto digestivo, los riñones y la retina, asociada a calcificaciones cerebrales idiopáticas. Se manifiesta como diarrea grave (con sangrado rectal y malabsorción), nefropatía (con insuficiencia renal e hipertensión sistémica), cicatrización coriorretiniana y hemorragia subaracnoidea. Adicionalmente, se puede observar poiquilodermia y encanecimiento prematuro."},"it":{"name":"Sindrome da ischemia retinica-ialinosi dei piccoli vasi dell'apparato digerente-calcificazioni cerebrali diffuse","synonyms":["Sindrome di Rambaud-Gallian","Sindrome di Rambaud-Gallian-Touchard"],"definition":"Si tratta di una malattia sistemica rara, caratterizzata da ialinosi progressiva a livello dei capillari, delle arteriole e delle piccole vene dell'intestino, dei reni e della retina, associata a calcificazioni cerebrali idiopatiche. La malattia esordisce con diarrea grave (associata a emorragie rettali e malassorbimento), nefropatia (con insufficienza renale e ipertensione sistemica), cicatrici corioretiniche ed emorragie subaracnoidee. I pazienti possono presentare poichilodermia e incanutimento precoce."},"nl":{"name":"Retinale ischemie-syndroom - hyalinose van kleine bloedvaten in spijsverteringskanaal - diffuse cerebrale calcificaties-syndroom","synonyms":["Syndroom van Rambaud-Galian","Syndroom van Rambaud-Galian-Touchard"],"definition":"Een zeldzame systemische ziekte die gekarakteriseerd wordt door progressieve hyalinose met betrokkenheid van capillairen, arteriolen en kleine aders van het spijsverteringsstelsel, de nieren en het netvlies, geassocieerd met idiopathische cerebrale verkalkingen, en die zich manifesteert met ernstige diarree (met rectale bloeding en malabsorptie), nefropathie (met nierfalen en systemische hypertensie), chorioretinale littekenvorming, en subarachnoïdale hemorragie. Poikilodermie en vroegtijdige vergrijzing van het haar kunnen bijkomend waargenomen worden."},"pt":{"name":"Síndrome de isquémia retiniana-hialinose dos pequenos vasos do trato digestivo-calcificações cerebrais difusas","synonyms":["Síndrome Rambaud-Gallian-Touchard","Síndrome Rambaud-Galian"]},"pl":{"name":"Retinal ischemic syndrome - hialinoza naczyń włosowatych przewodu pokarmowego - rozlane zwapnienia w mózgu","synonyms":["Zespół Rambauda i Galliana","Zespół Rambauda, Galliana i Toucharda"]},"cs":{"name":"Syndrom zahrnující retinální ischémii, hyalinózu malých cév zažívacího traktu a difuzní kalcifikaci mozku","synonyms":["Rambaudův-Gallianův syndrom","Rambaudův-Gallianův-Touchardův syndrom","Rambaud-Gallianův syndrom","Rambaud-Gallian-Touchardův syndrom"]},"uk":{"name":"Синдром ішемія сітківки-гіаліноз дрібних судин травного тракту-дифузні церебральні кальцифікати","synonyms":["Синдром Рамбо-Галліана","Синдром Рамбо-Галліана-Тушара"],"definition":"A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed."},"zh":{"name":"视网膜缺血综合征-消化道小血管透明变性-弥漫性脑钙化综合征","synonyms":["Rambaud-Gallian-Touchard综合征"]},"tr":{"name":"Retinal iskemik sendrom-sindirim sistemi küçük damar hyalinosis-diffüz serebral kalsifikasyon sendromu","synonyms":["Rambaud-Gallian sendromu","Rambaud-Gallian-Touchard sendromu"]}},"xrefs":[{"source":"OMIM","code":"277175","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535283","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510224","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3485063[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3485063[PMID]"}],"phenotypes":null}