MCID: EXS007
MIFTS: 33

Exstrophy of the Bladder malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Exstrophy of the Bladder

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Aliases & Descriptions for Exstrophy of the Bladder:

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

Classifications:



Summaries for Exstrophy of the Bladder

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MalaCards based summary: Exstrophy of the Bladder, also known as exstrophy of bladder, is related to exstrophy of bladder bladder exstrophy and epispadias complex, included and adenocarcinoma. An important gene associated with Exstrophy of the Bladder is WNT9B (Wnt Family Member 9B), and among its related pathways are HTLV-I infection and Presynaptic function of Kainate receptors. Affiliated tissues include kidney, colon and testes, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Related Diseases for Exstrophy of the Bladder

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1exstrophy of bladder bladder exstrophy and epispadias complex, included11.6
2adenocarcinoma10.2
3abdominal wall defect10.1
4imperforate anus10.0
5epispadias9.9
6oeis complex9.7
7omphalocele9.7
8trigonitis9.7
9down syndrome9.7
10colon adenocarcinoma9.7
11penile agenesis9.7
12linear lichen planus9.0AMY2A, WNT3, WNT9B

Graphical network of diseases related to Exstrophy of the Bladder:



Diseases related to exstrophy of the bladder

Symptoms & Phenotypes for Exstrophy of the Bladder

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GenomeRNAi Phenotypes related to Exstrophy of the Bladder according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.3AMY2A, WNT9B

Drugs & Therapeutics for Exstrophy of the Bladder

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Chelating Agents1365

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 IncontinenceNot yet recruitingNCT01011777Phase 1
3Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRIUnknown statusNCT01878500
4Biomechanical Assessment of Level Gait in Patient's Status Post Bladder ExstrophyUnknown statusNCT00863070
5Kidney Function in Patients With Bladder ExstrophyUnknown statusNCT02192801
6Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality)Not yet recruitingNCT02759705

Search NIH Clinical Center for Exstrophy of the Bladder

Genetic Tests for Exstrophy of the Bladder

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Genetic tests related to Exstrophy of the Bladder:

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

Anatomical Context for Exstrophy of the Bladder

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MalaCards organs/tissues related to Exstrophy of the Bladder:

36
Kidney, Colon, Testes, Testis, Uterus, Bone

Publications for Exstrophy of the Bladder

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Articles related to Exstrophy of the Bladder:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder. (24852367)
2014
2
Squamous cell carcinoma in exstrophy of the bladder. (23956833)
2013
3
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
4
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. (17669146)
2007
5
Duplication and exstrophy of the bladder with clitoris and vagina duplex as well as uterus bicornis. (17905128)
2007
6
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? (16602006)
2006
7
Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. (16010465)
2005
8
Another case of autosomal dominant exstrophy of the bladder. (15164413)
2004
9
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary development field defect. (12641106)
2003
10
Surgical treatment of exstrophy of the bladder with emphasis on neonatal primary closure: personal experience with 28 consecutive cases treated at the University of Washington Hospitals from 1962 to 1977: techniques and results. 1979. (12050544)
2002
11
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. (11251990)
2001
12
Duplicate exstrophy of the bladder. (10235339)
1999
13
Exstrophy of the bladder. (10362996)
1999
14
Bilateral posterior pelvic resection osteotomies in patients with exstrophy of the bladder. (10416394)
1999
15
A 49-year-old woman with non-complicated exstrophy of the bladder. (9089040)
1996
16
Re: Secondary reconstruction of abdominal wall defects associated with exstrophy of the bladder. (7793798)
1995
17
Re: Secondary reconstruction of abdominal wall defects associated with exstrophy of the bladder. (7857058)
1994
18
Re: Secondary reconstruction of abdominal wall defects associated with exstrophy of the bladder. (7993431)
1994
19
Carcinoma of the colon after ureterosigmoidostomy and trigonosigmoidostomy for exstrophy of the bladder. (8276563)
1993
20
Secondary reconstruction of abdominal wall defects associated with exstrophy of the bladder. (8285533)
1993
21
Exstrophy of the bladder: primary closure after iliac osteotomies without external or internal fixation. (1732612)
1992
22
Heterotopic hindgut duplication: a cloacal remnant associated with exstrophy of the bladder. (1469592)
1992
23
Seven years' experience of ureterosigmoidostomy in surgically failed exstrophy of the bladder. (2286760)
1990
24
Adenocarcinoma development in the trigone 34 years after trigonocolonic urinary diversion for exstrophy of the bladder. (2398574)
1990
25
The state of the testicle and the epididymis associated with exstrophy of the bladder in undescended testes. (1983451)
1990
26
Incomplete exstrophy of the bladder. (3208027)
1988
27
Adult female exstrophy of the bladder treated with a Kock continent reservoir. Report of a case. (3590408)
1987
28
Operative procedures for epispadias and exstrophy of the bladder. (3327125)
1987
29
The Boyce-Vest operation for exstrophy of the bladder. 35 years later. (3962030)
1986
30
A new surgical technique for phalloplasty in patients with exstrophy of the bladder. (3526371)
1986
31
Management of uncorrected exstrophy of the bladder in women. (6472753)
1984
32
Exstrophy of the bladder progress of management during the last 25 years. (6425976)
1984
33
Pregnancy associated with exstrophy of the bladder and obstructive renal failure. (6484696)
1984
34
Rectal bleeding in a patient with exstrophy of the bladder. (6602223)
1983
35
Adenocarcinoma in exstrophy of the bladder--the last case in Scandinavia? A case report and review of literature. (6644902)
1983
36
Exstrophy of the bladder. (6924662)
1982
37
The occurrence of Wilms tumor in 2 patients with exstrophy of the bladder. (6288973)
1982
38
Duplicate exstrophy of the bladder: a case report. (7064582)
1982
39
Exstrophy of the bladder: diagnosis on a bone scan. (6457721)
1981
40
Late development of colonic adenocarcinoma 49 years after ureterosigmoidostomy for exstrophy of the bladder. (7420602)
1980
41
Exstrophy of the bladder: long-term results of bilateral posterior iliac osteotomies and two-stage anatomic repair. (7418304)
1980
42
Duplicate exstrophy of the bladder. (6445705)
1980
43
Surgical treatment of exstrophy of the bladder with emphasis on neonatal primary closure: personal experience with 28 consecutive cases treated at the University of Washington hospitals from 1962 to 1977: techniques and results. (439263)
1979
44
Improved life expectancy for children with exstrophy of the bladder. (448960)
1979
45
Tumour of the colon as a late complication of ureterosigmoidostomy for exstrophy of the bladder. (534827)
1979
46
Exstrophy of the bladder: treatment by trigonosigmoidostomy--long-term results. (754857)
1978
47
The repair of exstrophy of the bladder. (150298)
1978
48
Adenocarcinoma at the site of ureterosigmoidostomies for exstrophy of the bladder. (731374)
1978
49
Exstrophy of the bladder. (847114)
1977
50
Adult exstrophy of the bladder with adenocarcinoma. (894055)
1977

Variations for Exstrophy of the Bladder

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Expression for genes affiliated with Exstrophy of the Bladder

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

Pathways for genes affiliated with Exstrophy of the Bladder

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GO Terms for genes affiliated with Exstrophy of the Bladder

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055769.2AMY2A, WNT3, WNT9B
2extracellular spaceGO:00056159.1AMY2A, WNT3, WNT9B
3proteinaceous extracellular matrixGO:00055789.0WNT3, WNT9B

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

idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathwayGO:00600709.7WNT3, WNT9B
2cell fate commitmentGO:00451659.7WNT3, WNT9B
3cellular response to retinoic acidGO:00713009.7WNT3, WNT9B
4neuron differentiationGO:00301829.6WNT3, WNT9B
5Wnt signaling pathwayGO:00160559.0WNT3, WNT9B

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

idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:00051099.0WNT3, WNT9B

Sources for Exstrophy of the Bladder

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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