MCID: BLD130
MIFTS: 42

Bladder Exstrophy malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Bladder Exstrophy

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Aliases & Descriptions for Bladder Exstrophy:

Name: Bladder Exstrophy 11 48 13 68
Exstrophy of Bladder 24 27
 
Exstrophy of the Bladder 48

Classifications:



External Ids:

Disease Ontology11 DOID:0080174
ICD9CM32 753.5

Summaries for Bladder Exstrophy

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Disease Ontology:11 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.

MalaCards based summary: Bladder Exstrophy, also known as exstrophy of bladder, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and exstrophy of bladder bladder exstrophy and epispadias complex, included, and has symptoms including recurrent urinary tract infections, inguinal hernia and epispadias. An important gene associated with Bladder Exstrophy is ISL1 (ISL LIM Homeobox 1), and among its related pathways are a6b1 and a6b4 Integrin signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include prostate, testes and heart, and related mouse phenotypes are digestive/alimentary and cellular.

Wikipedia:71 Bladder exstrophy (also known as ectopia vesicae) is a congenital anomaly that exists along the spectrum... more...

Related Diseases for Bladder Exstrophy

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



Diseases related to bladder exstrophy

Symptoms & Phenotypes for Bladder Exstrophy

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Human phenotypes related to Bladder Exstrophy:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections64 HP:0000010
2 inguinal hernia64 HP:0000023
3 epispadias64 HP:0000039
4 abnormality of the clitoris64 HP:0000056
5 vesicoureteral reflux64 HP:0000076
6 umbilical hernia64 HP:0001537
7 omphalocele64 HP:0001539
8 intestinal malrotation64 HP:0002566
9 bowel incontinence64 HP:0002607
10 bladder exstrophy64 HP:0002836
11 abnormality of the anus64 HP:0004378
12 hypoplasia of penis64 HP:0008736

MGI Mouse Phenotypes related to Bladder Exstrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3EGF, ERBB2, ISL1, MNX1, TP63
2MP:00053848.3ERBB2, ISL1, MNX1, MYH9, TP63, WIZ
3MP:00028737.7EGF, ERBB2, ISL1, MNX1, MYH9, TP63

Drugs & Therapeutics for Bladder Exstrophy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Chelating Agents1423

Interventional clinical trials:

idNameStatusNCT IDPhase
1Transurethral Myoblast Injection for Urinary Incontinence in Children With Bladder ExstrophyUnknown statusNCT02075216Phase 1, Phase 2
2Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced IncontinenceUnknown statusNCT01011777Phase 1
3Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRIUnknown statusNCT01878500
4Kidney Function in Patients With Bladder ExstrophyUnknown statusNCT02192801
5Biomechanical Assessment of Level Gait in Patient's Status Post Bladder ExstrophyCompletedNCT00863070
6Prospective Cohort of Transitional Urology PatientsRecruitingNCT03061084
7Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality)Not yet recruitingNCT02759705

Search NIH Clinical Center for Bladder Exstrophy

Genetic Tests for Bladder Exstrophy

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Genetic tests related to Bladder Exstrophy:

id Genetic test Affiliating Genes
1 Exstrophy of the Bladder27
2 Exstrophy of Bladder24

Anatomical Context for Bladder Exstrophy

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MalaCards organs/tissues related to Bladder Exstrophy:

36
Prostate, Testes, Heart

Publications for Bladder Exstrophy

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Articles related to Bladder Exstrophy:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Gender Identity and Sex Role in Patients Operated on for Bladder Exstrophy-Epispadias. (26944302)
2016
2
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. (26862292)
2016
3
Low Dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys with Bladder Exstrophy Epispadias Complex. (28039050)
2016
4
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. (27138190)
2016
5
Comparing the bulking effect of calcium hydroxyapatite and Deflux injection into the bladder neck for improvement of urinary incontinence in bladder exstrophy-epispadias complex. (27896576)
2016
6
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. (27290615)
2016
7
A Rare Case of an Adult with Untreated Bladder Exstrophy Presenting with Signet-Ring Cell Adenocarcinoma of Urinary Bladder. (28050437)
2016
8
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. (27013921)
2016
9
Medicinal Leech Therapy for Glans Penis Congestion after Primary Bladder Exstrophy-Epispadias Repair in an Infant: a Case Report. (26433079)
2015
10
Sexual Function in Patients Operated on for Bladder Exstrophy and Epispadias. (25644933)
2015
11
Re: Emotional and Behavioral Functioning in Children with Bladder Exstrophy-Epispadias Complex: A Developmental Perspective. (26292892)
2015
12
Health-related Quality of Life and Mental Health in Adolescents and Adults Operated for Bladder Exstrophy and Epispadias. (25881863)
2015
13
The Manchester-Fothergill and the Elevate PosteriorAr technique for the correction of a cervical elongation and large enterocele in a patient with bladder exstrophy and multiple surgeries. (25578871)
2015
14
Prenatal Vesico-allantoic Cyst Outcome - A Spectrum from Patent Urachus to Bladder Exstrophy. (26443202)
2015
15
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. (25763902)
2015
16
Bladder exstrophy-epispadias complex with adenocarcinoma in an adult patient: A case report. (26668615)
2015
17
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. (26105184)
2015
18
Complex bladder-exstrophy-epispadias management: Causes of failure of initial bladder closure. (25323185)
2014
19
Sub-urothelial polyp enucleation resection and urothelial auto-augmentation cystoplasty: a simple method for bladder exstrophy-epispadias complex reconstruction in bladder plate polyposis. (24802675)
2014
20
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding. (23525294)
2013
21
No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. (24314177)
2013
22
Lower urinary tract symptoms (LUTS) in patients in adulthood with bladder exstrophy and epispadias. (23350915)
2013
23
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. (23913486)
2013
24
Scar endometriosis in a patient with bladder exstrophy. (23701150)
2013
25
Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: A developmental perspective. (23962430)
2013
26
New insights into the pathogenesis of bladder exstrophy-epispadias complex. (23743131)
2013
27
Role of bulking agents in bladder exstrophy-epispadias complexes. (23519849)
2013
28
Long-term orthopedic outcomes in patients with epispadias and bladder exstrophy. (23084190)
2012
29
Insertion/deletion polymorphisms in the I9Np63 promoter are a risk factor for bladder exstrophy epispadias complex. (23284286)
2012
30
Severe hydronephrosis and dysuria-hematuria syndrome after 20 years of bladder exstrophy correction: a case report. (23198264)
2012
31
Health related quality of life in adolescents with bladder exstrophy-epispadias as measured by the Child Health Questionnaire-Child Form 87. (22998914)
2012
32
Pregnancy management in women within the bladder-exstrophy-epispadias complex (BEEC) after continent urinary diversion. (21698450)
2011
33
Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. (21431277)
2011
34
Resultant hypospadias after epispadias repair in bladder exstrophy patients: a difficult surgical task with high complication rate. (22008335)
2011
35
Re: pelvic-floor imaging using three-dimensional ultrasonography and magnetic resonance imaging in the long term follow-up of the bladder-exstrophy-epispadias complex. (22098989)
2011
36
Prenatal diagnosis of OEIS (omphalocele, bladder exstrophy, imperforate anus, clubfeet) variant associated with increased nuchal translucency and OEIS complex with ambiguous genitalia associated with corrected transposition of the great arteries: case series and review of the literature. (21475965)
2011
37
Embryology and bony and pelvic floor anatomy in the bladder exstrophy-epispadias complex. (21453848)
2011
38
Safety, efficacy and health related quality of life of autologous myoblast transplantation for treatment of urinary incontinence in children with bladder exstrophy-epispadias complex. (21944110)
2011
39
Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival. (21944104)
2011
40
Combined bladder exstrophy and epispadias repair. (22679150)
2011
41
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. (21679965)
2011
42
Parent perspectives of health related quality of life for adolescents with bladder exstrophy-epispadias as measured by the child health questionnaire-parent form 50. (20728103)
2010
43
Ruptured rectal duplication cyst with classical bladder exstrophy. (20638540)
2010
44
Do patients with classic bladder exstrophy have fecal incontinence? A web-based study. (19914696)
2010
45
Quality of life in adults with bladder exstrophy-epispadias complex. (20952009)
2010
46
Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. (20672349)
2010
47
p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. (21042780)
2010
48
Impact of epispadias repair on bladder growth in boys with classic bladder exstrophy. (20153257)
2010
49
Aesthetic aspects of reconstructive clitoroplasty in females with bladder exstrophy-epispadias complex. (20303329)
2010
50
Management of bladder exstrophy epispadias complex in adults: is abdominal closure possible without osteotomy? (19517113)
2010

Variations for Bladder Exstrophy

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Expression for genes affiliated with Bladder Exstrophy

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Search GEO for disease gene expression data for Bladder Exstrophy.

Pathways for genes affiliated with Bladder Exstrophy

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GO Terms for genes affiliated with Bladder Exstrophy

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure formation involved in morphogenesisGO:004864610.4TP63, WNT3
2negative regulation of intracellular estrogen receptor signaling pathwayGO:003314710.3ISL1, TP63
3positive regulation of DNA bindingGO:004338810.2EGF, ISL1
4ERBB2 signaling pathwayGO:003812810.1EGF, ERBB2
5negative regulation of ERBB signaling pathwayGO:190118510.0EGF, ERBB2
6spinal cord motor neuron cell fate specificationGO:00215209.8ISL1, MNX1
7regulation of cell motilityGO:20001459.7EGF, ERBB2

Molecular functions related to Bladder Exstrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein domain specific bindingGO:00199049.4MYH9, TP63, WNT3

Sources for Bladder Exstrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet