{"orpha":322,"name":"Exstrophy-epispadias complex","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BEEC","Bladder exstrophy-epispadias-cloacal extrophy complex","EEC"],"definition":"A rare non-syndromic uro-genital tract malformation characterized by a spectrum of manifestations ranging in severity: epispadias (E) is the mildest form, classic exstrophy of the bladder (CEB) is the intermediate form and cloacal exstrophy (CE) the most severe form. Exstrophy-epispadias complex (EEC) involves the bladder, the genitalia, the lower abdominal wall, the pelvis and pelvic floor, and depending on the phenotype, the spine and the anus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-322/","orphanet_url":"https://www.orpha.net/en/disease/detail/322","names":{"fr":{"name":"Exstrophie vésicale-épispadias","synonyms":["BEEC","EEC"],"definition":"Malformation urogénitale non syndromique rare, caractérisée par un spectre de manifestations allant de l'épispadias (E), forme la plus légère, et l'exstrophie classique de la vessie (ECV), forme intermédiaire, jusqu'à l'exstrophie cloacale (EC), forme la plus sévère. La malformation concerne la vessie, les organes génitaux, la partie sous ombilicale de la paroi abdominale, le bassin et le plancher pelvien, et, selon le phénotype, la colonne vertébrale et l'anus."},"de":{"name":"Ekstrophie-Epispadie-Komplex","synonyms":["BEEC","BEEK","Blasenekstrophie-Epispadie-Kloakenekstrophie-Komplex","Blasenekstrophie-Epispadie-Komplex","EEC"],"definition":"Eine seltene nicht-syndromale Fehlbildung des Urogenitaltrakts, die durch ein Spektrum von Manifestationen unterschiedlicher Schwere gekennzeichnet ist: Epispadie (E) ist die mildeste Form, klassische Blasenekstrophie (CEB) ist die mittlere Form und kloakale Ekstrophie (CE) die schwerste Form. Der Ekstrophie-Epispadie-Komplex (EEC) betrifft die Blase, die Genitalien, die untere Bauchwand, das Becken und den Beckenboden sowie je nach Phänotyp die Wirbelsäule und den Anus."},"es":{"name":"Complejo extrofia-epispadias","synonyms":["Complejo extrofia vesical-epispadias-extrofia cloacal"],"definition":"Es una malformación poco frecuente no sindrómica del tracto urogenital, caracterizada por un espectro de manifestaciones que varían en gravedad: epispadias (E) es la forma más leve, la extrofia vesical clásica (EVC) es la forma intermedia, y la extrofia cloacal (EC) la forma más grave. El complejo extrofia-epispadias (CEE) afecta a la vejiga, a los genitales, a la pared abdominal inferior, a la pelvis y al suelo pélvico, y, en función del fenotipo, a la columna vertebral y al ano."},"it":{"name":"Estrofia-epispadia complessa","synonyms":["BEEC","Complesso estrofia vescicale-epispadia-estrofia della cloaca","EEC"]},"nl":{"name":"Exstrofie - epispadie-complex","synonyms":["BEEC","Blaasexstrofie - epispadie - cloacale exstrofie-complex","EEC"],"definition":"Een zeldzame niet-syndromale malformatie van urogenitaal stelsel, gekenmerkt door een spectrum van manifestaties met variabele ernst: epispadie (E) is de mildste vorm, klassieke exstrofie van blaas (CEB) is de intermediaire vorm en exstrofie van cloaca (CE) de meest ernstige vorm. Exstrofie - epispadie-complex (EEC) treft de blaas, de geslachtsorganen, het onderste deel van de buikwand, het bekken en de bekkenbodem, en afhankelijk van het fenotype ook de wervelkolom en de anus."},"pt":{"name":"Complexo de extrofia da bexiga-epispádias","definition":"O complexo extrofia-epispadias (EEC) representa um espetro de malformações génito-urinárias variando em gravidade desde epispadias (E) e extrofia da bexiga clássica (CEB) a extrofia da cloaca (EC) como a forma mais grave (ver estes termos). Dependendo da gravidade, o EEC pode envolver o sistema urinário, o sistema esquelético, a pélvis, o soalho pélvico, a parede abdominal, os genitais e por vezes a coluna e o ânus."},"pl":{"name":"Zespół wynicowania i wierzchniactwa","synonyms":["BEEC","EEC","Kompleks wynicowanie pęcherza-wierzchniactwo-wynicowanie kloaki"],"definition":"Rzadka niesyndromiczna wada układu moczowo-płciowego charakteryzująca się spektrum objawów o różnym nasileniu: wierzchniactwo jest postacią najłagodniejszą, klasyczne wynicowanie (ekstrofia) pęcherza moczowego jest postacią pośrednią, a ekstrofia kloaki jest postacią najcięższą. Zespół ekstrofii i wierzchniactwa obejmuje pęcherz moczowy, narządy płciowe, dolną ścianę brzucha, miednicę i dno miednicy, a w zależności od fenotypu także kręgosłup i odbyt."},"cs":{"name":"Komplex zahrnující extrofii a epispadii","synonyms":["BEEC","EEC","Komplex zahrnující extrofii močového měchýře, epispadii a kloakální extrofii"]},"uk":{"name":"Комплекс екстрофії та епіспадії","synonyms":["BEEC","Комплекс екстрофії сечового міхура - епіспадія - клоакальна екстрофія","ЄЕС"],"definition":"Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus."},"zh":{"name":"膀胱外翻-尿道上裂复合畸形","synonyms":["膀胱外翻-尿道上裂-泄殖腔外翻复合畸形"]},"tr":{"name":"Ekstrofi-epispadias kompleksi","synonyms":["EEC","BEEC","Mesane ekstrofi-epispadias-kloakal ekstrofi kompleksi"]}},"xrefs":[{"source":"OMIM","code":"258040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600057","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q64.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017919","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838703","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2207","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":108977,"name":"Non-syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]},{"orpha":182124,"name":"Non-syndromic urogenital tract malformation of male and female","classifications":[147,185,233]}],"children":[{"orpha":93930,"name":"Classic bladder exstrophy","type":"Clinical subtype"},{"orpha":93929,"name":"Cloacal exstrophy","type":"Clinical subtype"},{"orpha":93928,"name":"Isolated epispadias","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ISL1","name":"ISL LIM homeobox 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25763902[PMID]","hgnc":"6132","ensembl":"ENSG00000016082","omim":"600366","loci":["5q11.1"],"via":{"orpha":93930,"name":"Classic bladder exstrophy"}},{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23284286[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"],"via":{"orpha":93930,"name":"Classic bladder exstrophy"}}],"inheritance":["Multigenic/multifactorial"],"onset":["Antenatal","Neonatal"],"prevalence":[{"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":"2021-06-30","source":"32564346[PMID]_30076940[PMID]_30576745[PMID]","terms":[{"hpo":"HP:0010866","label":"Abdominal wall defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004298","label":"Abnormality of the abdominal wall","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100645","label":"Cystocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030261","label":"Absent penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100599","label":"Bifid penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000136","label":"Bifid uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025489","label":"Bladder duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004321","label":"Bladder fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030014","label":"Female sexual dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040307","label":"Male sexual dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100600","label":"Penoscrotal transposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010475","label":"Cloacal exstrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Very rare (<4-1%)","criteria":null}]}}