MCID: EXS017
MIFTS: 47

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 58
Bladder Exstrophy 12 54 60 6 45 15 74
Exstrophy of the Bladder 77 54
Classic Exstrophy of the Bladder 60

Characteristics:

Orphanet epidemiological data:

60
bladder exstrophy
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
upper urinary tract usually normal


HPO:

33
exstrophy of bladder:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080174
OMIM 58 600057
ICD9CM 36 753.5
MeSH 45 D001746
ICD10 34 Q64.10
MESH via Orphanet 46 D001746
ICD10 via Orphanet 35 Q64.1
UMLS via Orphanet 75 C0005689
Orphanet 60 ORPHA93930
MedGen 43 C0005689
UMLS 74 C0005689

Summaries for Exstrophy of Bladder

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93930Disease definitionBladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.EpidemiologyThe 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 descriptionCEB 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.EtiologyCEB 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 methodsDiagnosis 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 treatmentManagement 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.PrognosisAfter 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 cloacal exstrophy. 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, bone and kidney, 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.

OMIM : 58 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 : 77 Bladder exstrophy (also known as ectopia vesicae) is a congenital anomaly that exists along the spectrum... 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 56)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 31.8 CELSR3 CNTNAP3 ISL1 KRT13 LRIG2 MMP23B
2 cloacal exstrophy 11.6
3 diphallia 11.6
4 adenocarcinoma 10.5
5 pelvic organ prolapse 10.3
6 hypospadias 10.3
7 squamous cell carcinoma 10.2
8 ischemia 10.2
9 neural tube defects 10.2
10 disease of mental health 10.2
11 adenoma 10.1
12 duplication of urethra 10.1
13 abdominal wall defect 10.1
14 renal hypodysplasia/aplasia 1 10.1
15 anus, imperforate 10.1
16 renal hypodysplasia/aplasia 3 10.1
17 omphalocele 10.1
18 bladder cancer 9.9
19 prostate cancer 9.9
20 smith-magenis syndrome 9.9
21 gastroschisis 9.9
22 myasthenia gravis 9.9
23 oeis complex 9.9
24 prostate cancer, hereditary, 8 9.9
25 prostate cancer, hereditary, 6 9.9
26 fecal incontinence 9.9
27 opitz-gbbb syndrome 9.9
28 pain agnosia 9.9
29 myelomeningocele 9.9
30 latex allergy 9.9
31 hydronephrosis 9.9
32 heart disease 9.9
33 neurogenic bladder 9.9
34 enterocele 9.9
35 paraurethral gland cancer 9.9
36 epidermolysis bullosa 9.9
37 endometriosis 9.9
38 teratoma 9.9
39 signet ring cell adenocarcinoma 9.9
40 nephrogenic adenoma 9.9
41 cleft lip 9.9
42 triple x syndrome 9.9
43 double discordia 9.9
44 myasthenia gravis congenital 9.9
45 transposition of the great arteries 9.9
46 urachal cyst 9.9
47 rectal duplication 9.9
48 cleft lip/palate 9.9
49 patent urachus 9.9
50 vaginal atresia 9.9

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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
2 vesicoureteral reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0000076
3 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
4 epispadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000039
5 abnormality of the anus 60 33 hallmark (90%) Very frequent (99-80%) HP:0004378
6 bladder exstrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002836
7 abnormality of the clitoris 60 33 hallmark (90%) Very frequent (99-80%) HP:0000056
8 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
9 recurrent urinary tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0000010
10 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
11 intestinal malrotation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002566
12 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
13 horseshoe kidney 33 HP:0000085
14 abnormality of pelvic girdle bone morphology 33 HP:0002644
15 anteriorly placed anus 33 HP:0001545
16 abnormality of the ureter 60 Frequent (79-30%)
17 hydroureter 33 HP:0000072
18 unilateral renal agenesis 33 HP:0000122
19 bifid clitoris 33 HP:0030911

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
inguinal hernia

Genitourinary External Genitalia Male:
epispadias

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:
megaureter

Abdomen External Features:
displaced umbilicus (inferiorly)

Muscle Soft Tissue:
rectus abdominis muscle separation
rectus fascia separation

Clinical features from OMIM:

600057

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 Myoblast Injection for Urinary Incontinence in Children With Bladder Exstrophy Unknown status NCT02075216 Phase 1, Phase 2
2 Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced Incontinence Recruiting NCT01011777 Phase 1 MDC
3 Kidney Function in Patients With Bladder Exstrophy Unknown status NCT02192801
4 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
5 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084
6 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Enrolling by invitation NCT01878500 Not Applicable
7 Urothelium Tissue Engineering Using Biopsies From Transurethral Resection of Prostate Not yet recruiting NCT03698721
8 Efficacy of Amniotic Membranes in Complex Genitourinary Reconstruction Not yet recruiting NCT03685955
9 Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality) Withdrawn NCT02759705

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:

42
Prostate, Bone, Kidney, Colon, Skin, Testes, Uterus

Publications for Exstrophy of Bladder

Articles related to Exstrophy of Bladder:

(show top 50) (show all 685)
# Title Authors Year
1
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. ( 30628148 )
2019
2
Split-appendix Technique for Simultaneous Use in the Mitrofanoff Principle and Posterior Urethral Substitution in a Bladder Exstrophy-Epispadias Complex Patient. ( 30686891 )
2019
3
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. ( 30725391 )
2019
4
Re: Lessons Learned from the Management of Adults Who Have Undergone Augmentation for Spina Bifida and Bladder Exstrophy: . ( 30747878 )
2019
5
Management of Recurrent Pelvic Fluid Collections in Adult Male Bladder Exstrophy Patients With Maintenance of Erectile Function. ( 30580006 )
2019
6
Re: Early versus Delayed Closure of Bladder Exstrophy: . ( 30634321 )
2019
7
Oblique pelvic osteotomy in the treatment of bladder exstrophy in neonates. ( 30830014 )
2019
8
3D MRI-Guided Pelvic Floor Dissection in Bladder Exstrophy: A Single Arm Trial. ( 30840542 )
2019
9
Male Sexuality, Fertility, and Urinary Continence in Bladder Exstrophy-Epispadias Complex. ( 29502980 )
2018
10
Prolapsed bladder following rupture of patent urachal cyst, mimicking bladder exstrophy: a case report and literature review. ( 29318419 )
2018
11
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. ( 28771821 )
2018
12
Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog. ( 29504860 )
2018
13
Preoperative care of Polypoid exposed mucosal template in bladder exstrophy: the role of high-barrier plastic wraps in reducing inflammation and polyp size. ( 29368874 )
2018
14
Early detection of deep wound infection in bladder exstrophy and hypospadias using a novel intervention. ( 30332360 )
2018
15
Modified staged repair of bladder exstrophy: a strategy to prevent penile ischemia while maintaining advantage of the complete primary repair of bladder exstrophy. ( 30442544 )
2018
16
Commentary to 'Modified staged repair of bladder exstrophy: a strategy to prevent penile ischemia while maintaining advantage of the complete primary repair of bladder exstrophy'. ( 30477993 )
2018
17
Pelvic Organ Prolapse and Pregnancy in the Female Bladder Exstrophy Patient. ( 29479649 )
2018
18
A Model for Sustained Collaboration to Address the Unmet Global Burden of Bladder Exstrophy-Epispadias Complex and Penopubic Epispadias: The International Bladder Exstrophy Consortium. ( 29516095 )
2018
19
The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. ( 30031742 )
2018
20
Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review. ( 30254955 )
2018
21
Editorial Comment to 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. ( 28771836 )
2018
22
Continuous caudal epidural analgesia and early feeding in delayed bladder exstrophy repair: a nine-year experience. ( 30600203 )
2018
23
Re: Failed Primary Bladder Exstrophy Closure with Osteotomy: Multivariable Analysis of a 25-Year Experience: P. Sirisreetreerux, K. M. Lue, T. Ingviya, D. A. Friedlander, H. N. Di Carlo, P. D. Sponseller and J. P. Gearhart J Urol 2017;197:1138-1143. ( 28963871 )
2018
24
Bladder exstrophy closure in the newborn period with external pelvic fixation performed without osteotomy: A preliminary report. ( 29195831 )
2018
25
Early versus delayed closure of bladder exstrophy: A National Surgical Quality Improvement Program Pediatric analysis. ( 29352663 )
2018
26
Re: Continence and Quality of Life with the Modified Heitz-Boyer-Hovelacque Rectal Bladder for Children with Urinary Incontinence following Bladder Exstrophy. ( 29357576 )
2018
27
Bladder Re-augmentation in Classic Bladder Exstrophy: Risk Factors and Prevention. ( 29447946 )
2018
28
T4 urothelial carcinoma in undiagnosed closed bladder exstrophy in a post-menopausal female. ( 29524978 )
2018
29
Re: "Early versus delayed closure of bladder exstrophy: A National Surgical Quality Improvement Program Pediatric analysis". ( 29576382 )
2018
30
Pregnancy in a woman with untreated bladder exstrophy: a case report. ( 29594008 )
2018
31
Who, where, and why are patients lost to follow-up? A 20-year study of bladder exstrophy patients at a single institution. ( 29606357 )
2018
32
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort. ( 29619236 )
2018
33
How to close classic bladder exstrophy: Are subspecialty training and technique important? ( 29627154 )
2018
34
Complete Primary Repair of Bladder Exstrophy: Critical Analysis of the Long-term Outcome. ( 29649545 )
2018
35
Contemporary issues relating to transitional care in bladder exstrophy. ( 29681269 )
2018
36
Commentary to 'Bladder exstrophy closure in the newborn period: Is it safe to perform external pelvic fixation without osteotomy?' ( 29681521 )
2018
37
Response to "Re. Early versus delayed closure of bladder exstrophy: A National Surgical Quality Improvement Program Pediatric analysis". ( 29706290 )
2018
38
Novel Observations of Female Genital Anatomy in Classic Bladder Exstrophy Using 3-Dimensional Magnetic Resonance Imaging Reconstruction. ( 29723567 )
2018
39
Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report. ( 29807047 )
2018
40
Novel Anatomical Observations of the Prostate, Prostatic Vasculature and Penile Vasculature in Classic Bladder Exstrophy Using Magnetic Resonance Imaging. ( 29906437 )
2018
41
The inadequate bladder template: Its effect on outcomes in classic bladder exstrophy. ( 29909193 )
2018
42
Predictors and outcomes of perioperative blood transfusions in classic bladder exstrophy repair: A single institution study. ( 29914824 )
2018
43
A Borderline Ovarian Tumour in a Patient with Classic Bladder Exstrophy; a Case Report. ( 29952444 )
2018
44
Commentary to "Who, where, and why are patients lost to follow up? A 20-year study of bladder exstrophy patients at a single institution". ( 29958876 )
2018
45
Secondary bladder exstrophy repair with a bilateral gracilis muscle flap in an adult female patient: Case report of an original procedure. ( 29980317 )
2018
46
Giant Ureteric Calculus in a Patient With Bladder Exstrophy. ( 30077537 )
2018
47
Using social media for patient-reported outcomes: A study of genital appearance and sexual function in adult bladder exstrophy patients. ( 30078549 )
2018
48
One-stage combined delayed bladder closure with Kelly radical soft-tissue mobilization in bladder exstrophy: preliminary results. ( 30126745 )
2018
49
The Pubic Diastasis Measurement, a Key Element for the Diagnosis, Management, and Prognosis of the Bladder Exstrophy. ( 30231253 )
2018
50
Modern Management of the Failed Bladder Exstrophy Closure: A 50-yr Experience. ( 30292419 )
2018

Variations for Exstrophy of Bladder

ClinVar genetic disease variations for Exstrophy of Bladder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(8;9)(p11.2;q13)dn Translocation Uncertain significance
2 LZTR1 NM_006767.3(LZTR1): c.2093C> T (p.Ser698Phe) single nucleotide variant Uncertain significance rs760064852 GRCh38 Chromosome 22, 20995986: 20995986
3 LZTR1 NM_006767.3(LZTR1): c.2093C> T (p.Ser698Phe) single nucleotide variant Uncertain significance rs760064852 GRCh37 Chromosome 22, 21350275: 21350275
4 LZTR1 NM_006767.3(LZTR1): c.1146G> A (p.Ser382=) single nucleotide variant Uncertain significance rs751444145 GRCh38 Chromosome 22, 20992366: 20992366
5 LZTR1 NM_006767.3(LZTR1): c.1146G> A (p.Ser382=) single nucleotide variant Uncertain significance rs751444145 GRCh37 Chromosome 22, 21346655: 21346655

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

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 innervation GO:0060384 8.96 ISL1 LRIG2
5 negative regulation of intracellular estrogen receptor signaling pathway GO:0033147 8.62 ISL1 TP63

Sources for Exstrophy of Bladder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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