MCID: EXS007
MIFTS: 44

Exstrophy of the Bladder malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Exstrophy of the Bladder

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Bladder exstrophy (also known as Ectopia vesicae) is a congenital anomaly that exists along the spectrum... more...

MalaCards: Exstrophy of the Bladder, also known as bladder exstrophy, is related to cleft lip and adenoma, and has symptoms including bladder/cloacal exstrophy, short bowel and omphalocele/exomphalos. An important gene associated with Exstrophy of the Bladder is TP63 (tumor protein p63). The compounds thymidine and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include colon, testis and testes, and related mouse phenotype limbs/digits/tail.

Description from OMIM:47 600057

Aliases & Classifications for Exstrophy of the Bladder

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
bladder exstrophy:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

exstrophy of the bladder 43
bladder exstrophy 43 20 22 49 47
classic exstrophy of the bladder 49


External Ids:

OMIM47 600057
MESH via Orphanet36 D001746
ICD10 via Orphanet26 Q64.1
SNOMED-CT via Orphanet59 61758007
UMLS via Orphanet63 C0005689

Related Diseases for Exstrophy of the Bladder

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Exstrophy of the Bladder:



Diseases related to exstrophy of the bladder

Symptoms for Exstrophy of the Bladder

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47OMIM, 49Orphanet
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Clinical features from OMIM:

600057

Symptoms:

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

Drugs & Therapeutics for Exstrophy of the Bladder

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Exstrophy of the Bladder

Search NIH Clinical Center for Exstrophy of the Bladder

Genetic Tests for Exstrophy of the Bladder

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20GeneTests, 22GTR
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Genetic tests related to Exstrophy of the Bladder:

id Genetic test Affiliating Genes
1 Exstrophy of Bladder20
2 Exstrophy of the Bladder22

Anatomical Context for Exstrophy of the Bladder

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33MalaCards
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MalaCards organs/tissues related to Exstrophy of the Bladder:

33
Colon, Testis, Testes, Uterus, Bone

Animal Models for Exstrophy of the Bladder or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Exstrophy of the Bladder:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0MTHFR, TP63

Publications for Exstrophy of the Bladder

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52PubMed
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Articles related to Exstrophy of the Bladder:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Squamous cell carcinoma in exstrophy of the bladder. (23956833)
2013
2
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
3
Duplication and exstrophy of the bladder with clitoris and vagina duplex as well as uterus bicornis. (17905128)
2007
4
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary development field defect. (12641106)
2003
5
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. (11251990)
2001
6
Duplicate exstrophy of the bladder. (10235339)
1999
7
Secondary reconstruction of abdominal wall defects associated with exstrophy of the bladder. (8285533)
1993
8
Carcinoma of the colon after ureterosigmoidostomy and trigonosigmoidostomy for exstrophy of the bladder. (8276563)
1993
9
Heterotopic hindgut duplication: a cloacal remnant associated with exstrophy of the bladder. (1469592)
1992
10
A new surgical technique for phalloplasty in patients with exstrophy of the bladder. (3526371)
1986
11
Exstrophy of the bladder progress of management during the last 25 years. (6425976)
1984
12
Pregnancy associated with exstrophy of the bladder and obstructive renal failure. (6484696)
1984
13
Exstrophy of the bladder. (6924662)
1982
14
The occurrence of Wilms tumor in 2 patients with exstrophy of the bladder. (6288973)
1982
15
Late development of colonic adenocarcinoma 49 years after ureterosigmoidostomy for exstrophy of the bladder. (7420602)
1980
16
Exstrophy of the bladder: long-term results of bilateral posterior iliac osteotomies and two-stage anatomic repair. (7418304)
1980
17
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
18
Exstrophy of the bladder. (847114)
1977
19
One-stage reconstruction for exstrophy of the bladder in girls. (124897)
1975
20
Exstrophy of the bladder. I. Long-term results in a series of 37 cases treated by ureterosigmoidostomy. (1142484)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exstrophy of the Bladder

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Pathways for genes affiliated with Exstrophy of the Bladder

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Compounds for genes affiliated with Exstrophy of the Bladder

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Sources:
45Novoseek, 24HMDB, 51PharmGKB, 61Tocris Bioscience, 11DrugBank
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Compounds related to Exstrophy of the Bladder according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1thymidine45 2410.1MTHFR, TP63
2cisplatin45 51 61 1112.1MTHFR, TP63
3testosterone45 61 24 1112.0MTHFR, TP63
4retinoic acid45 2410.0MTHFR, TP63
5glutamate458.9TP63, MTHFR
6estrogen458.7MTHFR, TP63

GO Terms for genes affiliated with Exstrophy of the Bladder

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Products for genes affiliated with Exstrophy of the Bladder

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exstrophy of the Bladder

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet