{"orpha":93930,"name":"Classic bladder exstrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic exstrophy of the bladder"],"definition":"A subtype of exstrophy-epispadias complex (EEC) characterized by an open bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and the abdominal wall.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93930/","orphanet_url":"https://www.orpha.net/en/disease/detail/93930","names":{"fr":{"name":"Exstrophie vésicale classique","synonyms":["Exstrophie classique de la vessie"],"definition":"Sous-type du complexe d'exstrophie-épispade (CEE) caractérisé par une évagination de la plaque vésicale, un épispadias et un défaut de la partie antérieure du pelvis, du plancher pelvien et de la paroi abdominale."},"de":{"name":"Klassische Blasenekstrophie","synonyms":["CEB"],"definition":"Eine Subtyp des Exstrophie-Epispadie-Komplexes (EEC), der durch eine offene Blasenplatte, Epispadie und einen vorderen Defekt des Beckens, des Beckenbodens und der Bauchwand gekennzeichnet ist."},"es":{"name":"Extrofia vesical clásica","synonyms":["Extrofia clásica de la vesícula"],"definition":"Es un subtipo del complejo extrofia-epispadias (CEE) caracterizado por una placa vesical abierta, epispadias y un defecto anterior de la pelvis, del suelo pélvico y de la pared abdominal."},"it":{"name":"Estrofia vescicale classica"},"nl":{"name":"Klassieke blaasexstrofie","synonyms":["Klassieke exstrofie van blaas"],"definition":"Een subtype van exstrofie - epispadie-complex (EEC), gekenmerkt door een open blaaswand, epispadie, en anterieur defect van bekken, bekkenbodem en buikwand."},"pt":{"name":"Extrofia clássica da bexiga","synonyms":["Bexiga com extrofia clássica"]},"pl":{"name":"Wynicowanie pęcherza","synonyms":["Klasyczne wynicowanie pęcherza"],"definition":"Podtyp zespołu ekstrofii i wierzchniactwa, charakteryzujący się otwartym trzonem pęcherza moczowego, wierzchniactwem oraz przednim ubytkiem miednicy, dna miednicy i ściany jamy brzusznej."},"cs":{"name":"Extrofie močového měchýře","synonyms":["Klasická extrofie močového měchýře"]},"uk":{"name":"Ексстрофія сечового міхура","synonyms":["Класична екстрофія сечового міхура"],"definition":"A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall."},"zh":{"name":"膀胱外翻","synonyms":["典型膀胱外翻"],"definition":"膀胱外翻-尿道上裂复合畸形（EEC）谱系中的一种先天性泌尿生殖系统畸形，其特征是膀胱板外翻，骨盆、骨盆底和腹壁的前部缺损。"},"tr":{"name":"Mesane ekstrofisi","synonyms":["Mesanenin klasik ekstrofisi"]}},"xrefs":[{"source":"OMIM","code":"600057","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q64.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB31.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1927556258"},{"source":"MONDO","code":"0010805","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0005689","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":322,"name":"Exstrophy-epispadias complex","classifications":[147,156,182,185,188,233]}],"children":[],"genes":[{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Spain","status":"Validated","source":"11251990[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"United States","status":"Not yet validated","source":"8013895[PMID]_15821570[PMID]_17990338[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.05,"area":"Worldwide","status":"Not yet validated","source":"19878548[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000056","label":"Abnormality of the clitoris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null}]}}