MCID: EXS007
MIFTS: 41

Exstrophy of the Bladder malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Exstrophy of the Bladder

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Sources:
45NIH Rare Diseases, 51Orphanet, 22GeneTests, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Exstrophy of the Bladder:

Name: Exstrophy of the Bladder 45
Exstrophy of Bladder 22 24
 
Bladder Exstrophy 45 51
Classic Exstrophy of the Bladder 51

Characteristics:

Orphanet epidemiological data:

51
bladder exstrophy:
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 93930
ICD10 via Orphanet28 Q64.1
MESH via Orphanet37 D001746
UMLS via Orphanet66 C0005689

Summaries for Exstrophy of the Bladder

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Wikipedia:68 Bladder exstrophy (also known as Ectopia vesicae) is a congenital anomaly that exists along the spectrum... more...

MalaCards based summary: Exstrophy of the Bladder, also known as exstrophy of bladder, is related to exstrophy-epispadias complex and adenocarcinoma, and has symptoms including umbilical hernia, anus/rectum anomalies and bladder/cloacal exstrophy. An important gene associated with Exstrophy of the Bladder is TP63 (Tumor Protein P63), and among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Hippo signaling pathway. Affiliated tissues include thyroid, breast and lung, and related mouse phenotypes are limbs/digits/tail and embryo.

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 11)
idRelated DiseaseScoreTop Affiliating Genes
1exstrophy-epispadias complex29.5AMY2A, ISL1, TP63, WNT3, WNT9B
2adenocarcinoma10.3
3abdominal wall defect10.2
4imperforate anus10.1
5epispadias10.0
6omphalocele9.8
7trigonitis9.8
8down syndrome9.8
9colon adenocarcinoma9.8
10penile agenesis9.8
11mccallum macadam johnston syndrome9.4TP63, WNT9B

Graphical network of diseases related to Exstrophy of the Bladder:



Diseases related to exstrophy of the bladder

Symptoms for Exstrophy of the Bladder

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Symptoms:

 51 (show all 14)
  • umbilical hernia
  • anus/rectum anomalies
  • bladder/cloacal exstrophy
  • vesicorenal/vesicoureteral reflux
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • inguinal/inguinoscrotal/crural hernia
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • recurrent urinary infections
  • omphalocele/exomphalos
  • intestinal/gut/bowel malrotation
  • short bowel
  • encopresis/fecal incontinence

Drugs & Therapeutics for Exstrophy of the Bladder

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Transurethral Myoblast Injection for Urinary Incontinence in Children With Bladder ExstrophyRecruitingNCT02075216Phase 1, Phase 2
2Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced IncontinenceNot yet recruitingNCT01011777Phase 1
3Biomechanical Assessment of Level Gait in Patient's Status Post Bladder ExstrophyRecruitingNCT00863070
4Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRIEnrolling by invitationNCT01878500
5Kidney Function in Patients With Bladder ExstrophyNot yet recruitingNCT02192801
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 Bladder22

Anatomical Context for Exstrophy of the Bladder

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MalaCards organs/tissues related to Exstrophy of the Bladder:

33
Thyroid, Breast, Lung, Bone, T cells, Kidney, Endothelial

Animal Models for Exstrophy of the Bladder or affiliated genes

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MGI Mouse Phenotypes related to Exstrophy of the Bladder:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6ISL1, TP63, WNT3
2MP:00053808.1ISL1, TP63, WNT3, WNT9B
3MP:00053898.1ISL1, TP63, WNT3, WNT9B

Publications for Exstrophy of the Bladder

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Articles related to Exstrophy of the Bladder:

(show top 50)    (show all 154)
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
Duplication and exstrophy of the bladder with clitoris and vagina duplex as well as uterus bicornis. (17905128)
2007
5
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary development field defect. (12641106)
2003
6
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. (11251990)
2001
7
Duplicate exstrophy of the bladder. (10235339)
1999
8
Secondary reconstruction of abdominal wall defects associated with exstrophy of the bladder. (8285533)
1993
9
Carcinoma of the colon after ureterosigmoidostomy and trigonosigmoidostomy for exstrophy of the bladder. (8276563)
1993
10
Heterotopic hindgut duplication: a cloacal remnant associated with exstrophy of the bladder. (1469592)
1992
11
A new surgical technique for phalloplasty in patients with exstrophy of the bladder. (3526371)
1986
12
Exstrophy of the bladder progress of management during the last 25 years. (6425976)
1984
13
Pregnancy associated with exstrophy of the bladder and obstructive renal failure. (6484696)
1984
14
Exstrophy of the bladder. (6924662)
1982
15
The occurrence of Wilms tumor in 2 patients with exstrophy of the bladder. (6288973)
1982
16
Late development of colonic adenocarcinoma 49 years after ureterosigmoidostomy for exstrophy of the bladder. (7420602)
1980
17
Exstrophy of the bladder: long-term results of bilateral posterior iliac osteotomies and two-stage anatomic repair. (7418304)
1980
18
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
19
Exstrophy of the bladder. (847114)
1977
20
One-stage reconstruction for exstrophy of the bladder in girls. (124897)
1975
21
Reconstruction of the external genitalia in exstrophy of the bladder: preliminary communication. (4275413)
1974
22
Duplication of the hindgut: low male imperforate anus and unilateral exstrophy of the bladder. (4412871)
1974
23
Exstrophy of the bladder and associated anomalies. (4470888)
1974
24
Review of the management of 140 cases of exstrophy of the bladder. (4685737)
1973
25
Incomplete exstrophy of the bladder. (5556711)
1971
26
Exstrophy of the bladder. (5371091)
1969
27
Exstrophy of the bladder. (5300350)
1968
28
Pregnancy and delivery following bilateral ureteral transplantation to the bowel for exstrophy of the bladder. (6044593)
1967
29
Innominate osteotomy in reconstructive surgery for exstrophy of the bladder. (6080306)
1967
30
MANAGEMENT OF EXSTROPHY OF THE BLADDER. (14276425)
1965
31
EXSTROPHY OF THE BLADDER. (14115716)
1964
32
New approaches to the management of exstrophy of the bladder. (13963599)
1963
33
Experiences with exstrophy of the bladder. (13978703)
1963
34
SURGICAL TREATMENT OF THE EXSTROPHY OF THE BLADDER AND OF THE ASSOCIATED PATHOLOGICAL CHANGES. (14119143)
1963
35
Iliac osteoclast: a new instrument which facilitates operation for exstrophy of the bladder. (14481126)
1961
36
Attempted surgical correction of exstrophy of the bladder. (14498490)
1961
37
An improved surgical procedure for exstrophy of the bladder. A preliminary report. (13737625)
1960
38
Care of the child with exstrophy of the bladder. (13545239)
1958
39
A method of closure of the abdominal wall defect in exstrophy of the bladder. (13327152)
1956
40
A simplified technique for cystectomy and repair of the abdominal defect in exstrophy of the bladder. (13380893)
1956
41
Exstrophy of the bladder; a follow-up examination of 17 cases. (13137824)
1953
42
The genesis of exstrophy of the bladder and epispadias. (14902688)
1952
43
A new concept concerning treatment of exstrophy of the bladder. (14928330)
1952
44
A case of exstrophy of the bladder. (15413307)
1950
45
Management of labor in complete exstrophy of the bladder. (18871808)
1948
46
Simultaneous multiple surgical procedures for correction of exstrophy of the bladder; report of case. (18885117)
1948
47
Exstrophy of the bladder; presentation of a case. (20283990)
1947
48
Exstrophy of the bladder with imperforate anus, absence of the greater part of the small and large intestines, continuity of the duodenum with the colon, absence of the left testis, epididymis and cord, and enormous hydroureter. (19970406)
1938
49
THE POTENTIAL MALIGNANCY IN EXSTROPHY OF THE BLADDER. (17864611)
1922
50
Exstrophy of the Bladder. (18733676)
1905

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

idNameGO IDScoreTop Affiliating Genes
1cell fate commitmentGO:00451659.2WNT3, WNT9B
2Wnt signaling pathwayGO:00160559.0WNT3, WNT9B
3cellular response to retinoic acidGO:00713008.9WNT3, WNT9B
4neuron differentiationGO:00301828.6ISL1, WNT3, WNT9B

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051029.0WNT3, WNT9B

Sources for Exstrophy of the Bladder

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet