MCID: EXS007
MIFTS: 27

Exstrophy of the Bladder malady

Nephrological diseases, Fetal diseases categories

Summaries for Exstrophy of the Bladder

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Bladder exstrophy (also known as Ectopia vesicae) is a congenital anomaly in which part of the urinary... more...

MalaCards: Exstrophy of the Bladder, also known as bladder exstrophy, is related to cleft lip and cleft palate, and has symptoms including umbilical hernia, short bowel and intestinal/gut/bowel malrotation. An important gene associated with Exstrophy of the Bladder is TP63 (tumor protein p63).

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, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

exstrophy of the bladder 42
bladder exstrophy 42 20 22 48 46
classic exstrophy of the bladder 48


External Ids:

OMIM46 600057
MESH via Orphanet35 D001746
ICD10 via Orphanet26 Q64.1
SNOMED-CT via Orphanet57 61758007
UMLS via Orphanet61 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

Clinical Features for Exstrophy of the Bladder

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

600057

Symptoms:

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

Drugs & Therapeutics for Exstrophy of the Bladder

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Exstrophy of the Bladder

Drug clinical trials:

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Search NIH Clinical Center for Exstrophy of the Bladder

Search CenterWatch for Exstrophy of the Bladder

Genetic Tests for Exstrophy of the Bladder

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Sources:
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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Animal Models for Exstrophy of the Bladder or affiliated genes

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Publications for Exstrophy of the Bladder

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Genetic Variations for Exstrophy of the Bladder

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Expression for genes affiliated with Exstrophy of the Bladder

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exstrophy of the Bladder

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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Compounds 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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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet