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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Wikipedia:65 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 bladder exstrophy, is related to cleft lip and adenoma, 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). The compounds thymidine and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include colon, bone and uterus, and related mouse phenotype limbs/digits/tail.

Description from OMIM:46 600057

Aliases & Classifications for Exstrophy of the Bladder

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Exstrophy of the Bladder, Aliases & Descriptions:

Name: Exstrophy of the Bladder 42
Bladder Exstrophy 42 20 22 48 46
 
Classic Exstrophy of the Bladder 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
bladder exstrophy:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

MESH via Orphanet35 D001746
ICD10 via Orphanet26 Q64.1
UMLS via Orphanet63 C0005689
OMIM46 600057

Related Diseases for Exstrophy of the Bladder

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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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Clinical features from OMIM:

600057

Symptoms:

48 (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

HPO human phenotypes related to Exstrophy of the Bladder:

(show all 10)
id Description Frequency HPO Source Accession
1 abnormality of female external genitalia hallmark (90%) HP:0000055
2 vesicoureteral reflux hallmark (90%) HP:0000076
3 umbilical hernia hallmark (90%) HP:0001537
4 hypoplasia of penis hallmark (90%) HP:0008736
5 exstrophy hallmark (90%) HP:0100548
6 displacement of the external urethral meatus hallmark (90%) HP:0100627
7 recurrent urinary tract infections typical (50%) HP:0000010
8 omphalocele occasional (7.5%) HP:0001539
9 intestinal malrotation occasional (7.5%) HP:0002566
10 bowel incontinence occasional (7.5%) HP:0002607

Drugs & Therapeutics for Exstrophy of the Bladder

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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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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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MalaCards organs/tissues related to Exstrophy of the Bladder:

32
Colon, Bone, Uterus, Testis

Animal Models for Exstrophy of the Bladder or affiliated genes

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MGI Mouse Phenotypes related to Exstrophy of the Bladder:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0MTHFR, TP63

Publications for Exstrophy of the Bladder

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Articles related to Exstrophy of the Bladder:

(show top 50)    (show all 150)
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
Exstrophy of the bladder. I. Long-term results in a series of 37 cases treated by ureterosigmoidostomy. (1142484)
1975
22
Reconstruction of the external genitalia in exstrophy of the bladder: preliminary communication. (4275413)
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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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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Compounds related to Exstrophy of the Bladder according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1thymidine44 2410.1MTHFR, TP63
2cisplatin44 50 61 1112.1MTHFR, TP63
3testosterone44 61 24 1112.0MTHFR, TP63
4retinoic acid44 2410.0MTHFR, TP63
5glutamate448.9TP63, MTHFR
6estrogen448.7MTHFR, 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

Sources for Exstrophy of the Bladder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet