{"orpha":611201,"name":"Oculogastrointestinal-neurodevelopmental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OGIN Syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-611201/","orphanet_url":"https://www.orpha.net/en/disease/detail/611201","names":{"fr":{"name":"Syndrome oculogastrointestinal-trouble neurologique du développement","synonyms":["Syndrome OGIN"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par des anomalies oculaires (microphthalmie unilatérale/bilatérale, colobome, ptosis unilatéral et opacité du cristallin), un retard de croissance, des anomalies rénales (principalement un rein en fer à cheval, mais des dysfonctionnements de la jonction pyélo-urétérale et des reflux vésico-urétraux ont également été rapportés), une imperforation anale et un retard global de développement. La majorité des patients présentent également une perte d'acuité auditive, des anomalies cardiaques et une dysmorphie (visage triangulaire, ailes nasales hypoplasiques, nez en bec d'oiseau et petit menton pointu)."},"de":{"name":"Syndrom der okulo-gastro-intestinalen neurologische Entwicklungsstörungen","synonyms":["OGIN-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien und Dysmorphien, das durch Augenanomalien (einschließlich einseitiger/bilateraler Mikrophthalmie, Kolobom, einseitiger Ptosis und Linsentrübung), Gedeihstörung, Nierenanomalien (hauptsächlich Hufeisenniere, aber auch Dysfunktion der Harnleiter-Becken-Kreuzung und vesikoureteraler Reflux wurden berichtet), Analatresie und globale Entwicklungsverzögerung gekennzeichnet ist. Die Mehrzahl der Patienten weist auch Hörstörungen, Herzanomalien und dysmorphe Merkmale auf (dreieckiges Gesicht, schnabelförmige Nase mit hypoplastischen Nasenflügeln und kleines, spitzes Kinn)."},"es":{"name":"Síndrome del neurodesarrollo-oculogastrointestinal","synonyms":["Síndrome OGIN"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas caracterizado por alteraciones oculares (incluyendo microftalmía uni-/bilateral, coloboma, ptosis unilateral y opacidad del cristalino), así como fallo de medro, anomalías renales (principalmente riñón en herradura, aunque también se ha descrito disfunción de la unión ureteral-pélvica y reflujo vesicoureteral), ano imperforado y retraso global del desarrollo. La mayoría de los pacientes presenta discapacidad auditiva, anomalías cardíacas y rasgos dismórficos (cara triangular, alas nasales hipoplásicas, nariz con forma de pico y mentón pequeño y puntiagudo)."},"it":{"name":"Sindrome oculo-gastrointestinale e dello sviluppo neurologico","synonyms":["Sindrome OGIN"]},"nl":{"name":"Oculogastro-intestinaal - neurologische ontwikkeling-syndroom","synonyms":["OGIN-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door oogafwijkingen (waaronder unilaterale/bilaterale microftalmie, coloboom, unilaterale ptosis en lenstroebeling) bovenop niet-gedijen, nieranomalieën (vooral hoefijzernier, maar disfunctie van pyelo-ureterale overgang en vesico-ureterale reflux werden ook gerapporteerd), anusatresie en algehele ontwikkelingsachterstand. De meerderheid van de patiënten presenteert zich ook met slechthorendheid, hartanomalieën en dysmorfe kenmerken (driehoekig gelaat, hypoplastische neusvleugels, snavelvormige neus, en kleine, puntige kin)."},"pt":{"name":"Síndrome oculogastrointestinal-neurodesenvolvimento","synonyms":["Síndrome OGIN"]},"pl":{"name":"Zespół oczno-żołądkowo-jelitowy z zaburzeniami neurorozwojowymi","synonyms":["OGIN Syndrome"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny charakteryzujący się brakiem prawidłowego rozwoju, nieprawidłowościami oczu (w tym jednostronnym/obustronnym małooczem, colobomą, jednostronnym opadaniem powieki i zmętnieniem soczewki), wadami nerek (głównie nerka podkowiasta, jednak zgłaszano również dysfunkcję połączenia miedniczkowo-moczowodowego i odpływ pęcherzowo-moczowodowy), atrezją odbytu. U większości chorych występuje także niedosłuch, wady serca oraz cechy dysmorfii (trójkątna twarz, hipoplastyczne skrzydełka nosa, zakrzywiony nos i mały spiczasty podbródek)."},"cs":{"name":"Okulogastrointestinální-neurovývojový syndrom","synonyms":["OGIN Syndrome"]},"uk":{"name":"Окулогастроінтестінальний синдром з порушенням нейророзвитку","synonyms":["Синдром OGIN"]}},"xrefs":[{"source":"OMIM","code":"619318","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0036189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543355","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"CAPN15","name":"calpain 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32885237[PMID]","hgnc":"11182","ensembl":"ENSG00000103326","omim":"603267","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"32885237[PMID]_33410501[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32885237[PMID]_33410501[PMID]_ORPHANET"}],"phenotypes":null}