Exstrophy-epispadias complex

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.



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Narrow down the case reports



Total: 35 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(23.3%)		 17669146
 Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.
Reutter H, Hoischen A, Ludwig M, Stein R, Radlwimmer B, Engels H, Wolffenbuttel KP, Weber RG.
BJU Int. 2007;100(3):646-50.
Lumbar scoliosis
AMY1B AMY2A AMY2B
Adult Bladder Exstrophy Chromosome Aberrations DNA Epispadias Fluorescent in Situ Hybridization Genetic Predisposition to Disease Genome Homo sapiens Male Morocco Oligonucleotide Array Sequence Analysis
2
(17.5%)		 27144803
 Is 1p36 deletion associated with anterior body wall defects?
Collu M, Yuksel , irin BK, Abbasoglu L, Alanay Y.
Am J Med Genet A. 2016;170(7):1889-94.
Epispadias Hernia
DVL1 MMP23B
Anus, Imperforate Bladder Exstrophy Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Epispadias Females Genetic Association Studies Homo sapiens Male Pregnancy Urogenital Abnormalities
2
(17.5%)		 26668615
 Bladder exstrophy-epispadias complex with adenocarcinoma in an adult patient: A case report.
Xiong W, Peng R, Zhu L, Zhong Z.
Exp Ther Med. 2015;10(6):2194-2196.
Inguinal hernia
4
(4.0%)		 31176738
 Anteroposterior Duplicated Exstrophy: A Case Report.
Ardicli B, Dogan HS, Asi T, Orhan D, Tekgul S.
Urology. 2019;:.
Exstrophy
Bladder Exstrophy Females Homo sapiens Infant
4
(4.0%)		 30686891
 Split-appendix Technique for Simultaneous Use in the Mitrofanoff Principle and Posterior Urethral Substitution in a Bladder Exstrophy-Epispadias Complex Patient.
Sarin YK, Kumar P.
J Indian Assoc Pediatr Surg. 2019;24(1):65-67.
Neurogenic bladder
4
(4.0%)		 30642850
 Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex.
Kumar P, Nayyar R, Seth A, Gupta D.
BMJ Case Rep. 2019;12(1):.
Epispadias
Adenocarcinoma Bladder Exstrophy Bladder Neoplasm Cystectomy Diastasis, Bone Epispadias Females Homo sapiens Male Middle Aged Rare Diseases Reconstructive Surgical Procedures Surgical Flaps Urinary Bladder X-Ray Computed Tomography
4
(4.0%)		 30254955
(6135159)
 Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review.
Pacquee S, Conrad DH, Saar TD, Rosen D, Cario G, Chou D, Smet ME.
Gynecol Minim Invasive Ther. 2018;7(3):127-129.
Epispadias
4
(4.0%)		 29504860
 Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog.
Jones B, Berent AC, Weisse CW, Hart R, Alvarez L, Fischetti A, Horn BD, Canning D.
J Am Vet Med Assoc. 2018;252(6):732-743.
Recurrent urinary tract infections
Animals Bladder Exstrophy Canis familiaris Dog Diseases Epispadias Fatal Outcome Females Osteotomy Reconstructive Surgical Procedures X-Ray Computed Tomography
4
(4.0%)		 27433455
(4942437)
 Antero-posterior Duplicate Exstrophy with a Wet Bladder Plate: A Diagnostic Dilemma.
Thakkar NC, Raj P, Sarin YK.
J Neonatal Surg. 2016;5(3):37.
Exstrophy
4
(4.0%)		 27223093
 PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?
Kolarova J, Bens S, Ammerpohl O, Hilger AC, Zhang R, Reutter H, Siebert R.
Birth Defects Res A Clin Mol Teratol. 2016;106(8):724-8.
Epispadias
PLAGL1
Bladder Exstrophy Cell Cycle Proteins Child Child, Preschool Chromosomes, Human, Pair 6 Cohort Studies CpG Islands DNA Methylation Epispadias Females Gene Expression Genetic Loci Genomic Imprinting Homo sapiens Male Multiplex Polymerase Chain Reaction Short Tandem Repeat Tumor Suppressor Proteins
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0100548 Exstrophy 7
HP:0000039 Epispadias 3
HP:0010866 Abdominal wall defect 2
HP:0012125 Prostate cancer 1
HP:0025489 Bladder duplication 1
HP:0030912 Duplicated clitoris 1
HP:0031607 Pelvic organ prolapse 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID