{"orpha":1552,"name":"Currarino syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Currarino triad"],"definition":"A rare developmental defect during embryogenesis characterized by the triad of anorectal malformations, presacral mass and sacral anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1552/","orphanet_url":"https://www.orpha.net/en/disease/detail/1552","names":{"fr":{"name":"Syndrome de Currarino","synonyms":["Triade de Currarino"],"definition":"Anomalie rare du développement embryonnaire caractérisée par la triade associant des malformations anorectales, une masse pré-sacrée et des anomalies sacrées."},"de":{"name":"Currarino-Syndrom","synonyms":["Currarino-Triade"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch die Trias anorektaler Fehlbildungen, präsakraler Gewebeverdichtung und sakraler Anomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Currarino","synonyms":["Tríada de Currarino"],"definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por la tríada de malformaciones anorrectales, masa presacra y anomalías sacras."},"it":{"name":"Sindrome di Currarino","synonyms":["Sindrome di Currarino"],"definition":"La sindrome di Currarino (CS) è una malattia congenita rara, caratterizzata dalla triade: malformazioni anorettali (ARM) (di solito stenosi anale), massa presacrale (in genere meningocele sacrale anteriore [AMS] o teratoma) e anomalie sacrali (agenesia completa o parziale del sacro e del coccige o deformità delle vertebre sacrali)."},"nl":{"name":"Syndroom van Currarino","synonyms":["Triade van Currarino"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door de triade van anorectale malformaties, presacrale massa en sacrale anomalieën."},"pt":{"name":"Síndrome Currarino","synonyms":["Tríade de Currarino"],"definition":"Anomalia rara do desenvolvimento durante a embriogénese caracterizada pela tríade de malformações anorretais, massa pré-sacral e anomalias sacrais."},"pl":{"name":"Triada Currarino","synonyms":["Zespół Currarino"]},"cs":{"name":"Currarinova triáda","synonyms":["Currarinův syndrom"]},"uk":{"name":"Синдром Кураріно","synonyms":["Тріада Кураріно"],"definition":"A rare developmental defect during embryogenesis characterized by the triad of anorectal malformations, presacral mass and sacral anomalies."},"zh":{"name":"Currarino综合征","synonyms":["Currarino三联征"]},"tr":{"name":"Currarino sendromu","synonyms":["Currarino triyadı"]}},"xrefs":[{"source":"OMIM","code":"176450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1532133816"},{"source":"MONDO","code":"0008305","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536221","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1531773","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079857","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[{"symbol":"MNX1","name":"motor neuron and pancreas homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22820079[PMID]_23370340[PMID]","hgnc":"4979","ensembl":"ENSG00000130675","omim":"142994","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-12","source":"33618589[PMID]_27887934[PMID]_36265244[PMID]","terms":[{"hpo":"HP:0008517","label":"Aplasia/Hypoplasia of the sacrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030736","label":"Sacrococcygeal teratoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032155","label":"Abdominal cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007293","label":"Anterior sacral meningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009790","label":"Hemisacrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010447","label":"Anal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025247","label":"Dermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030451","label":"Mesenteric cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009793","label":"Presacral teratoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000336","label":"Rectal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012033","label":"Sacral lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001153","label":"Septate vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034231","label":"Sigmoid kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002144","label":"Tethered cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Very rare (<4-1%)","criteria":null}]}}