Exstrophy of Bladder

Categories: Fetal diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Exstrophy of Bladder

MalaCards integrated aliases for Exstrophy of Bladder:

Name: Exstrophy of Bladder 56
Bladder Exstrophy 12 52 58 6 43 15 71
Exstrophy of the Bladder 74 52
Classic Exstrophy of the Bladder 58


Orphanet epidemiological data:

bladder exstrophy
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;


autosomal dominant

upper urinary tract usually normal


exstrophy of bladder:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0080174
OMIM 56 600057
ICD9CM 34 753.5
MeSH 43 D001746
ICD10 32 Q64.10
MESH via Orphanet 44 D001746
ICD10 via Orphanet 33 Q64.1
UMLS via Orphanet 72 C0005689
Orphanet 58 ORPHA93930
MedGen 41 C0005689
UMLS 71 C0005689

Summaries for Exstrophy of Bladder

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93930 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. Epidemiology The prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. However, CEB appears to be more frequent in the white population. Most studies report a male-to-female ratio of around 2.4:1, but ratios as high as 6:1 have also been reported. Clinical description CEB is evident from birth, with the reddish bladder mucosa being visible in the lower abdomen and mucosal polyps sometimes present on the surface. Urine drips from the ureteric orifices on the bladder surface. Other findings include pubic diastasis of various degrees with divergent rectus muscles and inguinal hernias. In males, the penis is short and broad with dorsal chordee. The urethral plate covers the whole dorsum of the penis from the open bladder to the glandular grove. Both corpora cavernosa are located beneath the urethral plate and the colliculus seminalis and the ductus ejaculatorii are visible as tiny openings in the area where the prostate is presumably dorsally located. Females present with a bifid clitoris next to the open urethral plate. The vaginal opening appears narrow and the perineum is shortened due to the anterior displacement of the vagina and anus. Women with CEB have a predisposition for vaginal or uterine prolapse. Spinal anomalies occur in about 7% of cases but gastrointestinal anomalies are rare in CEB. Etiology CEB results from early abnormal development of the intra-abdominal wall and bladder during rupture of the cloacal membrane. Though the underlying cause remains still unknown, a developmental field defect with both genetic and environmental factors is likely to play a role. Diagnostic methods Diagnosis is clinical. However, during follow-up, laboratory and imagining studies (such as ultrasound of the urogenital system , pelvic MRI or X-ray , voiding cystography and urodynamics) are useful to determine renal function and assess bladder capacity and detrusor function. Management and treatment Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Currently, several methods for bladder reconstruction with creation of an outlet resistance and epispadias repair (either as a staged or a one-stage approach) during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative. Prognosis After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Though spontaneous voiding is the main issue, additional surgery might be needed to optimize bladder storage and emptying function. In cases of definite reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function constitute increasingly important issues for both sexes. Psychosocial and psychosexual outcome reflect the importance of long-term care (from birth into adulthood) from a multidisciplinary team of experts for parents and children with EEC to facilitate an adequate quality of life. Visit the Orphanet disease page for more resources.

MalaCards based summary : Exstrophy of Bladder, also known as bladder exstrophy, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and vesicoureteral reflux 1. An important gene associated with Exstrophy of Bladder is ISL1 (ISL LIM Homeobox 1). The drugs Anesthetics and Anesthetics, General have been mentioned in the context of this disorder. Affiliated tissues include prostate, colon and kidney, and related phenotypes are umbilical hernia and abnormality of the anus

Disease Ontology : 12 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.

OMIM : 56 Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780. Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery. (600057)

Wikipedia : 74 Bladder exstrophy is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias... more...

Related Diseases for Exstrophy of Bladder

Diseases related to Exstrophy of Bladder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 31.1 WIZ UPK3A TP63 THAP7 SLC20A1 PRUNE1
2 vesicoureteral reflux 1 30.6 UPK3A UPK1A PRUNE1
3 cloacal exstrophy 29.6 PRPF38A LINC00343 CNTNAP3B CNTNAP3
4 diphallia 11.7
5 sacral defect with anterior meningocele 11.4
6 pelvic organ prolapse 10.6
7 hydronephrosis 10.6
8 adenocarcinoma 10.6
9 pyelonephritis 10.6
10 hypospadias 10.5
11 acute cystitis 10.5
12 inguinal hernia 10.5
13 neural tube defects 10.4
14 pain agnosia 10.3
15 urethral stricture 10.3
16 metabolic acidosis 10.3
17 autosomal dominant non-syndromic intellectual disability 2 10.3 CNTNAP3B CNTNAP3
18 limbal stem cell deficiency 10.3 TP63 KRT13
19 neurogenic bladder 10.3
20 squamous cell carcinoma 10.3
21 isolated epispadias 10.3
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.2 TP63 CNTNAP3B CNTNAP3
23 bladder cancer 10.2
24 cat eye syndrome 10.2
25 sexual disorder 10.2
26 myelomeningocele 10.2
27 47,xyy 10.2
28 duplication of urethra 10.2
29 transitional papilloma 10.2 UPK3A KRT13
30 cleft palate, isolated 10.1
31 polykaryocytosis inducer 10.1
32 digeorge syndrome 10.1
33 cryptorchidism, unilateral or bilateral 10.1
34 gastroschisis 10.1
35 scoliosis 10.1
36 osteomyelitis 10.1
37 chronic pyelonephritis 10.1
38 leech infestation 10.1
39 bacteriuria 10.1
40 azoospermia 10.1
41 oligospermia 10.1
42 cystitis 10.1
43 orchitis 10.1
44 endometriosis 10.1
45 adenoma 10.1
46 cleft lip 10.1
47 epididymo-orchitis 10.1
48 urachal cancer 10.1
49 patent urachus 10.1
50 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1 TP63 PERP

Graphical network of the top 20 diseases related to Exstrophy of Bladder:

Diseases related to Exstrophy of Bladder

Symptoms & Phenotypes for Exstrophy of Bladder

Human phenotypes related to Exstrophy of Bladder:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
2 abnormality of the anus 58 31 hallmark (90%) Very frequent (99-80%) HP:0004378
3 vesicoureteral reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0000076
4 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
5 epispadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000039
6 bladder exstrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002836
7 abnormality of the clitoris 58 31 hallmark (90%) Very frequent (99-80%) HP:0000056
8 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
9 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
10 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
11 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
12 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
13 horseshoe kidney 31 HP:0000085
14 abnormality of pelvic girdle bone morphology 31 HP:0002644
15 anteriorly placed anus 31 HP:0001545
16 abnormality of the ureter 58 Frequent (79-30%)
17 hydroureter 31 HP:0000072
18 unilateral renal agenesis 31 HP:0000122
19 bifid clitoris 31 HP:0030911

Symptoms via clinical synopsis from OMIM:

Genitourinary Internal Genitalia Male:
inguinal hernia

Genitourinary External Genitalia Male:

Genitourinary External Genitalia Female:
bifid clitoris

Abdomen Gastrointestinal:
anteriorly displaced anus

Skeletal Pelvis:
pubic diastasis

Genitourinary Kidneys:
horseshoe kidney
unilateral renal agenesis

Genitourinary Bladder:
bladder exstrophy

Genitourinary Ureters:

Abdomen External Features:
displaced umbilicus (inferiorly)

Muscle Soft Tissue:
rectus abdominis muscle separation
rectus fascia separation

Clinical features from OMIM:


Drugs & Therapeutics for Exstrophy of Bladder

Drugs for Exstrophy of Bladder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 Anesthetics, General

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Transurethral Autologous Myoblast Injection for Treatment of Urinary Incontinence in Children With Bladder Exstrophy Unknown status NCT02075216 Phase 1, Phase 2
2 Phase I Study of Endoscopically Injected Muscle Derived Cells in Participants With Exstrophy-epispadias Complex Related Urinary Incontinence Active, not recruiting NCT01011777 Phase 1 MDC
3 Evaluation of Long-term Renal Function in Patients After Surgical Repair of Classical Bladder Exstrophy Unknown status NCT02192801
4 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
5 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
6 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Enrolling by invitation NCT01878500
7 Urothelium Tissue Engineering Using Bladder Mucosa From Transurethral Resection of Prostate Not yet recruiting NCT03698721
8 Male Bladder Exstrophy in Adulthood : What Sexuality and Fertility Prospects ? Withdrawn NCT02759705
9 The Effect of Amniotic Membranes on Complex Genitourinary Reconstruction Outcomes in Pediatric and Adult Populations Withdrawn NCT03685955

Search NIH Clinical Center for Exstrophy of Bladder

Cochrane evidence based reviews: bladder exstrophy

Genetic Tests for Exstrophy of Bladder

Anatomical Context for Exstrophy of Bladder

MalaCards organs/tissues related to Exstrophy of Bladder:

Prostate, Colon, Kidney, Bone, Uterus, Skin, Smooth Muscle

Publications for Exstrophy of Bladder

Articles related to Exstrophy of Bladder:

(show top 50) (show all 1436)
# Title Authors PMID Year
Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. 61 56
22002949 2011
Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. 61 56
17937426 2007
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 61 56
16969870 2006
Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature. 61 56
12833402 2003
Classic bladder exstrophy in a nonhuman primate: a comparative analysis. 61 56
11834381 2002
Creation of a model of bladder exstrophy in the fetal lamb. 61 56
8683791 1996
Four cases of bladder exstrophy in two families. 61 56
8071977 1994
The inheritance of the exstrophy-epispadias complex. 61 56
6737583 1984
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. 56
11251990 2001
The Effect of Multiple Surgeries on Psychosocial Outcomes in Pediatric Patients: A Scoping Review. 61
32040002 2020
Long-term Outcome of Renal Transplantation in Patients with Congenital Lower Urinary Tract Malformations: A Multicenter Study. 61
30964838 2020
Risk of Stillbirth for Fetuses With Specific Birth Defects. 61
31809437 2020
Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective. 61
31437120 2020
Re: Complete Primary Repair of Bladder Exstrophy: Critical Analysis of the Long-Term Outcome. 61
31928453 2020
Great Expectations: The Dream versus the Reality of Urinary Continence and Bladder Exstrophy. 61
31651205 2020
Re: Continuous Caudal Epidural Analgesia and Early Feeding in Delayed Bladder Exstrophy Repair: A Nine-Year Experience. 61
31928454 2020
TopClosure® tension-relief system for immediate primary abdominal defect repair in an adult patient with bladder exstrophy. 61
31875747 2020
Bladder Augmentation Using Lyoplant®: First Experimental Results in Rats. 61
31824826 2019
Re: Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report. 61
31821086 2019
Re: Using Social Media for Patient-Reported Outcomes: A Study of Genital Appearance and Sexual Function in Adult Bladder Exstrophy Patients. 61
31535908 2019
Penile Disassembly in Complete Primary Repair of Bladder Exstrophy: Time for Re-evaluation? 61
31887351 2019
Surgical Collaboratives in Pediatric Urology for Bladder Exstrophy and Complex Reconstruction. 61
31538840 2019
Probability of Bladder Augmentation, Diversion and Clean Intermittent Catheterization in Classic Bladder Exstrophy: A 36-Year, Multi-Institutional, Retrospective Cohort Study. 61
31526259 2019
Re-evaluation of histological findings after colocystoplasty and gastrocystoplasty. 61
31735521 2019
A less invasive technique for delayed bladder exstrophy closure without fascia closure and immobilisation: can the need for prolonged anaesthesia be avoided? 61
31388752 2019
The role of anatomic pelvic dissection in the successful closure of bladder exstrophy: an aid to success. 61
31383518 2019
Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database. 61
31176739 2019
Anteroposterior Duplicated Exstrophy: A Case Report. 61
31176738 2019
[Appllication of human acellular dermal matrix in surgical treatment of genitourinary disease]. 61
31420640 2019
Comparison between epidural and opioid analgesia for infants undergoing major abdominal surgery. 61
31140664 2019
Use of small intestinal submucosa for corporal body grafting in cases of epispadias and epispadias/exstrophy complex. 61
31221598 2019
The ladder of learning in exstrophy closure - A 5 year initial faculty experience. 61
31434607 2019
Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy. 61
31104999 2019
Commentary to 'Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy'. 61
31350174 2019
3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial. 61
30840542 2019
Isolated bladder exstrophy in prenatal diagnosis. 61
31115647 2019
Nonsecretory intestinocystoplasty: postoperative outcomes of 25 years. 61
31184453 2019
Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation. 61
31286274 2019
OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program. 61
31042330 2019
A rare case of hyperammonaemic encephalopathy. 61
31270084 2019
Re: Who, Where, and Why are Patients Lost to Follow-up? A 20-Year Study of Bladder Exstrophy Patients at a Single Institution. 61
30932753 2019
Lifelong Congenital Urology: The Challenges for Patients and Surgeons. 61
30935758 2019
Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research. 61
30725391 2019
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene. 61
31044557 2019
Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association. 61
31296310 2019
A single-institution experience of complete primary repair of bladder exstrophy in girls: risk factors for urinary retention. 61
31023568 2019
Oblique pelvic osteotomy in the treatment of bladder exstrophy in neonates. 61
30830014 2019
Re: Lessons Learned from the Management of Adults Who Have Undergone Augmentation for Spina Bifida and Bladder Exstrophy: Incidence and Management of the Non-Lethal Complications of Bladder Augmentation. 61
30747878 2019
Functional, histological and molecular characteristics of human exstrophy detrusor. 61
30745011 2019
Delayed access to care and unmet burden of pediatric surgical disease in resource-constrained African countries. 61
30017069 2019

Variations for Exstrophy of Bladder

ClinVar genetic disease variations for Exstrophy of Bladder:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(8;9)(p11.2;q13)dnTranslocation Uncertain significance 267944
2 LZTR1 NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe)SNV Uncertain significance 548121 rs760064852 22:21350275-21350275 22:20995986-20995986
3 LZTR1 NM_006767.4(LZTR1):c.1146G>A (p.Ser382=)SNV Uncertain significance 548122 rs751444145 22:21346655-21346655 22:20992366-20992366

Expression for Exstrophy of Bladder

Search GEO for disease gene expression data for Exstrophy of Bladder.

Pathways for Exstrophy of Bladder

GO Terms for Exstrophy of Bladder

Cellular components related to Exstrophy of Bladder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane urothelial plaque GO:0120001 8.62 UPK3A UPK1A

Biological processes related to Exstrophy of Bladder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic forelimb morphogenesis GO:0035115 9.32 TP63 WNT3
2 embryonic hindlimb morphogenesis GO:0035116 9.26 TP63 WNT3
3 anatomical structure formation involved in morphogenesis GO:0048646 9.16 TP63 WNT3
4 negative regulation of intracellular estrogen receptor signaling pathway GO:0033147 8.96 TP63 ISL1
5 epithelial cell differentiation GO:0030855 8.8 UPK3A UPK1A TP63

Sources for Exstrophy of Bladder

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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