MCID: BLD130
MIFTS: 44

Bladder Exstrophy

Categories: Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bladder Exstrophy

MalaCards integrated aliases for Bladder Exstrophy:

Name: Bladder Exstrophy 12 20 6 44 15
Exstrophy of the Bladder 73 20

Classifications:



Summaries for Bladder Exstrophy

GARD : 20 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.

MalaCards based summary : Bladder Exstrophy, also known as exstrophy of the bladder, is related to bladder exstrophy and epispadias complex and bladder exstrophy-epispadias-cloacal exstrophy complex. An important gene associated with Bladder Exstrophy is LZTR1 (Leucine Zipper Like Transcription Regulator 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Anesthetics and Anesthetics, General have been mentioned in the context of this disorder. Affiliated tissues include prostate, colon and skin, and related phenotypes are umbilical hernia and vesicoureteral reflux

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.

Wikipedia : 73 Bladder exstrophy is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias... more...

Related Diseases for Bladder Exstrophy

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy and epispadias complex 32.7 WNT3 TP63 ISL1
2 bladder exstrophy-epispadias-cloacal exstrophy complex 32.2 WNT3 SLC20A1 LZTR1 ISL1 CNTNAP3B
3 cloacal exstrophy 31.8 SLC20A1 MNX1 CNTNAP3B
4 diphallia 11.1
5 sacral defect with anterior meningocele 11.1
6 urinary tract infection 10.7
7 pelvic organ prolapse 10.6
8 hydronephrosis 10.6
9 acute cystitis 10.6
10 vesicoureteral reflux 1 10.5
11 pyelonephritis 10.5
12 hypospadias 10.5
13 inguinal hernia 10.4
14 omphalocele 10.4
15 abdominal wall defect 10.4
16 neural tube defects 10.4
17 adenocarcinoma 10.4
18 metabolic acidosis 10.3
19 pain agnosia 10.3
20 urethral stricture 10.3
21 sexual disorder 10.3
22 anus, imperforate 10.2
23 neurogenic bladder 10.2
24 cystitis 10.2
25 ischemia 10.2
26 isolated epispadias 10.2
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 TP63 LOC111162621
28 bladder cancer 10.1
29 cat eye syndrome 10.1
30 myelomeningocele 10.1
31 urolithiasis 10.1
32 squamous cell carcinoma 10.1
33 infertility 10.1
34 duplication of urethra 10.1
35 cleft palate, isolated 10.1
36 nephrolithiasis, calcium oxalate 10.1
37 polykaryocytosis inducer 10.1
38 digeorge syndrome 10.1
39 renal hypodysplasia/aplasia 1 10.1
40 cryptorchidism, unilateral or bilateral 10.1
41 gastroschisis 10.1
42 oeis complex 10.1
43 scoliosis 10.1
44 osteomyelitis 10.1
45 chronic pyelonephritis 10.1
46 leech infestation 10.1
47 bacteriuria 10.1
48 azoospermia 10.1
49 oligospermia 10.1
50 glandular cystitis 10.1

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



Diseases related to Bladder Exstrophy

Symptoms & Phenotypes for Bladder Exstrophy

Human phenotypes related to Bladder Exstrophy:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 31 hallmark (90%) HP:0001537
2 vesicoureteral reflux 31 hallmark (90%) HP:0000076
3 hypoplasia of penis 31 hallmark (90%) HP:0008736
4 epispadias 31 hallmark (90%) HP:0000039
5 abnormality of the anus 31 hallmark (90%) HP:0004378
6 bladder exstrophy 31 hallmark (90%) HP:0002836
7 abnormality of the clitoris 31 hallmark (90%) HP:0000056
8 inguinal hernia 31 frequent (33%) HP:0000023
9 recurrent urinary tract infections 31 frequent (33%) HP:0000010
10 bowel incontinence 31 occasional (7.5%) HP:0002607
11 intestinal malrotation 31 occasional (7.5%) HP:0002566
12 omphalocele 31 occasional (7.5%) HP:0001539

MGI Mouse Phenotypes related to Bladder Exstrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.76 CKAP4 ERBB2 ISL1 MYH9 PLAGL1 SLC20A1
2 growth/size/body region MP:0005378 9.7 CKAP4 EGF ERBB2 ISL1 LZTR1 MNX1
3 normal MP:0002873 9.23 EGF ERBB2 ISL1 MNX1 MYH9 SLC20A1

Drugs & Therapeutics for Bladder Exstrophy

Drugs for Bladder Exstrophy (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:

(show all 11)
# 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 Terminated NCT01011777 Phase 1 MDC
3 Evaluation of Long-term Renal Function in Patients After Surgical Repair of Classical Bladder Exstrophy Unknown status NCT02192801
4 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Completed NCT01878500
5 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
6 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
7 Outcome Of Classic Bladder Exstrophy Repair, Assiut University Experience Not yet recruiting NCT04580186
8 Urothelium Tissue Engineering Using Bladder Mucosa From Transurethral Resection of Prostate Not yet recruiting NCT03698721
9 Concomitant Renal and Urinary Bladder Allograft Transplantation Not yet recruiting NCT04626167 Early Phase 1
10 Male Bladder Exstrophy in Adulthood : What Sexuality and Fertility Prospects ? Withdrawn NCT02759705
11 The Effect of Amniotic Membranes on Complex Genitourinary Reconstruction Outcomes in Pediatric and Adult Populations Withdrawn NCT03685955

Search NIH Clinical Center for Bladder Exstrophy

Cochrane evidence based reviews: bladder exstrophy

Genetic Tests for Bladder Exstrophy

Anatomical Context for Bladder Exstrophy

MalaCards organs/tissues related to Bladder Exstrophy:

40
Prostate, Colon, Skin, Smooth Muscle, Uterus, Kidney, Appendix

Publications for Bladder Exstrophy

Articles related to Bladder Exstrophy:

(show top 50) (show all 1704)
# Title Authors PMID Year
1
Bladder exstrophy with exstrophic rectal duplication in an infant: An extremely rare case. 61
33642407 2021
2
Pedicled Anterolateral Thigh and Radial Forearm Free Flap Phalloplasty for Penile Reconstruction in Patients With Bladder Exstrophy. 61
33026935 2021
3
Congenital Heart Defects in Patients with Classic Bladder Exstrophy: A Hitherto Neglected Association? 61
33677825 2021
4
Variant of Bladder Exstrophy With an Intact Penis: Surgical Options and Approach. 61
33296699 2021
5
Role of the Pubic Symphysis in Osseous Pelvic Development: A Novel Model of Bladder Exstrophy in Rabbits. 61
33136931 2021
6
Outcome of penile lengthening of adolescents and young adults born with bladder exstrophy and epispadias. 61
33612401 2021
7
Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes. 61
33223423 2021
8
Single-staged male bladder exstrophy-epispadias complex reconstruction with pubic bone adaptation without osteotomy: 15-year single-center experience. 61
32980929 2021
9
Timing of inguinal hernia following complete primary repair of bladder exstrophy. 61
33317945 2021
10
Autologous fat grafting with stem cell transplantation in an exstrophic patient. A case. 61
33390329 2021
11
Antenatal biological models in the characterization and research of congenital lower urinary tract disorders. 61
33386226 2021
12
New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex. 61
33049233 2021
13
Expression of Low Affinity Nerve Growth Factor Receptor p75 in Classic Bladder Exstrophy. 61
33692976 2021
14
Case Report: Recurrent Placental Abruption During Pregnancy in a Patient With Pseudoexstrophy. 61
33575266 2021
15
Impact of bilateral ureteral reimplantation at the time of complete primary repair of bladder exstrophy on reflux rates, renogram abnormalities and bladder capacity. 61
33583747 2021
16
Volumetric and acetabular changes in the bony pelvis associated with primary closure of classic bladder exstrophy. 61
32981861 2020
17
Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management. 61
33347773 2020
18
Editorial Comment on: Volumetric and acetabular changes in the bony pelvis associated with primary closure of classic bladder exstrophy. 61
33069602 2020
19
Delaying primary closure of classic bladder exstrophy: When is it too late? 61
33008760 2020
20
Assessment of the anterior osteotomy role in the restoration of normal pelvic floor anatomy for bladder exstrophy patients using pre and postoperative pelvic floor MRI. 61
33023849 2020
21
Ileal Neobladder With A Continent Cutaneous Catheterizable Channel Using the Extramural Serous Lined (Mansoura) Technique in A Bladder Exstrophy Patient. 61
32998021 2020
22
[Complete penile rehabilitation of a patient with microphallia after correction of bladder exstrophy]. 61
33377690 2020
23
Management of Untreated Classical Bladder Exstrophy in Adults: A Single-Institutional Experience. 61
32961222 2020
24
Introducing a novel experimental model of bladder transplantation in mice. 61
32282990 2020
25
Frank Hartley and his Contribution to Surgery. 61
33339489 2020
26
Congenital bladder exstrophy with uterine didelphys and prolapse of both uterine horns: a case report. 61
32516694 2020
27
Bladder Exstrophy Polyp: An Uncommon Entity in Surgical Pathology. 61
33252291 2020
28
The Effect of Multiple Surgeries on Psychosocial Outcomes in Pediatric Patients: A Scoping Review. 61
32040002 2020
29
Key anatomic findings on fetal ultrasound and MRI in the prenatal diagnosis of bladder and cloacal exstrophy. 61
32773250 2020
30
Outcomes of inflatable penile prosthesis insertion using a neotunica allograft in neophalluses of patients on the bladder exstrophy-epispadias complex spectrum. 61
32798107 2020
31
Patient-reported outcomes in adult females with bladder exstrophy: A study of long-term sexual, reproductive and urinary outcomes using social media. 61
32698983 2020
32
Development of Late Continence in Bladder Exstrophy and Epispadias Patients. 61
32628948 2020
33
Variants in ALX4 and their association with genitourinary defects. 61
32385972 2020
34
Bullous Pemphigoid in a Renal Transplant Recipient, A Case Report and Review of the Literature. 61
32943598 2020
35
Comparing 30-day outcomes between early versus delayed repair of anorectal malformations with perineal or rectovestibular fistulas: An analysis of the ACS NSQIP-Pediatric database. 61
33023749 2020
36
Fertility and sexuality issues in congenital lifelong urology patients: female aspects. 61
32989556 2020
37
Demographics and baseline care among newly transitioning adult congenital urology patients. 61
32593616 2020
38
Editorial comment on the paper practice patterns in classic bladder exstrophy: A global perspective. 61
32340882 2020
39
Commentary to 'Continence after BNR in the complete repair of bladder exstrophy (CPRE): A single institution expanded experience'. 61
32605873 2020
40
Continence after BNR in the complete repair of bladder exstrophy (CPRE): A single institution expanded experience. 61
32546418 2020
41
Evaluation of outcomes following complete primary repair of bladder exstrophy at three individual sites prior to the establishment of a multi-institutional collaborative model. 61
32616376 2020
42
Practice patterns in classic bladder exstrophy: A global perspective. 61
32299766 2020
43
The search for continence in bladder exstrophy: Bladder neck transection and Macedo catheterizable reservoir to augment the nativebladder. 61
32591315 2020
44
Response to commentary: Practice patterns in classic bladder exstrophy: A global perspective. 61
32540427 2020
45
Re: The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. J Pediatr Urol. 2018. 61
32653310 2020
46
The ladder of learning in exstrophy closure - A 5 year initial faculty experience. 61
31434607 2020
47
Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis. 61
31957550 2020
48
Bladder Exstrophy with Anovestibular Fistula: A Rare Presentation. 61
32939125 2020
49
Delaying reclosure of bladder exstrophy leads to gradual decline in bladder capacity. 61
32340883 2020
50
Classic bladder exstrophy and complete rectal prolapse in a 10 year-old child with no previous surgical intervention: what to achieve? 61
32547729 2020

Variations for Bladder Exstrophy

ClinVar genetic disease variations for Bladder Exstrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LZTR1 NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe) SNV Uncertain significance 548121 rs760064852 GRCh37: 22:21350275-21350275
GRCh38: 22:20995986-20995986
2 LZTR1 NM_006767.4(LZTR1):c.1146G>A (p.Ser382=) SNV Uncertain significance 548122 rs751444145 GRCh37: 22:21346655-21346655
GRCh38: 22:20992366-20992366

Expression for Bladder Exstrophy

Search GEO for disease gene expression data for Bladder Exstrophy.

Pathways for Bladder Exstrophy

Pathways related to Bladder Exstrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 TP63 ISL1 EGF
2 10.7 MNX1 ISL1 EGF

GO Terms for Bladder Exstrophy

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

# Name GO ID Score Top Affiliating Genes
1 embryonic hindlimb morphogenesis GO:0035116 9.32 WNT3 TP63
2 anatomical structure formation involved in morphogenesis GO:0048646 9.26 WNT3 TP63
3 negative regulation of intracellular estrogen receptor signaling pathway GO:0033147 9.16 TP63 ISL1
4 spinal cord motor neuron cell fate specification GO:0021520 8.96 MNX1 ISL1
5 negative regulation of ERBB signaling pathway GO:1901185 8.62 ERBB2 EGF

Sources for Bladder Exstrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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