MCID: EXS007
MIFTS: 42

Exstrophy of the Bladder malady

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

Aliases & Classifications for Exstrophy of the Bladder

About this section
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

About this section
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 breast cancer, 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 kidney, brain and breast, and related mouse phenotypes are limbs/digits/tail and embryo.

Related Diseases for Exstrophy of the Bladder

About this section

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

About this section

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

About this section

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

About this section

Genetic tests related to Exstrophy of the Bladder:

id Genetic test Affiliating Genes
1 Exstrophy of Bladder22

Anatomical Context for Exstrophy of the Bladder

About this section

MalaCards organs/tissues related to Exstrophy of the Bladder:

33
Kidney, Brain, Breast, Bone, T cells, Thyroid, Salivary gland

Animal Models for Exstrophy of the Bladder or affiliated genes

About this section

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

About this section

Articles related to Exstrophy of the Bladder:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Binding of Galectin-3, a I^-Galactoside-binding Lectin, to MUC1 Protein Enhances Phosphorylation of Extracellular Signal-regulated Kinase 1/2 (ERK1/2) and Akt, Promoting Tumor Cell Malignancy. (26342075)
2015
2
Hyperprolactinemia has no effect on plasma ghrelin levels in patients with prolactinoma. (26097390)
2015
3
The Pharmacological Management of Oppositional Behaviour, Conduct Problems, and Aggression in Children and Adolescents With Attention-Deficit Hyperactivity Disorder, Oppositional Defiant Disorder, and Conduct Disorder: A Systematic Review and Meta-Analysis. Part 2: Antipsychotics and Traditional Mood Stabilizers. (25886656)
2015
4
Cell cycle arrest or survival signaling through I+v integrins, activation of PKC and ERK1/2 lead to anoikis resistance of ovarian cancer spheroids. (24291221)
2014
5
Surgery for Diverticulitis in the 21st Century: A Systematic Review. (24430164)
2014
6
Antimicrobial susceptibility of Stenotrophomonas maltophilia isolates from a Korean tertiary care hospital. (22318836)
2012
7
Haemolytic and proteolytic activity of coagulase-negative staphylococci isolated from mastitis cows. (22708359)
2012
8
Epidemiology and treatment of adenoid cystic carcinoma of the minor salivary glands: a meta-analytic study. (21743416)
2011
9
Analysis of incidence and risk factors of retinopathy of prematurity among very-low-birth-weight infants in North Taiwan. (22192259)
2011
10
Analysis of LOXL1 single nucleotide polymorphisms in Polish population with pseudoexfoliation syndrome. (21272281)
2011
11
FcI^RIIA and FcI^RIIIB are required for autoantibody-induced tissue damage in experimental human models of bullous pemphigoid. (20720565)
2010
12
Glucocorticoid administration for Graves' hyperthyroidism treated by radioiodine. A questionnaire survey among members of the European Thyroid Association. (20101098)
2010
13
Anosognosia for right hemiplegia from dominant anterior cerebral artery stroke. (19570175)
2009
14
Fas expression in metastatic osteosarcoma cells is not regulated by CpG island methylation. (19911702)
2009
15
PRC1 cooperates with CLASP1 to organize central spindle plasticity in mitosis. (19561070)
2009
16
In silico analyses of a new group of fungal and plant RecQ4-homologous proteins. (18701350)
2008
17
Genetic polymorphisms of beta1 adrenergic receptor and their influence on the cardiovascular responses to metoprolol in a South Indian population. (19033826)
2008
18
Whiplash headache is transitory worsening of a pre-existing primary headache. (18494992)
2008
19
The FLEP scale in diagnosing nocturnal frontal lobe epilepsy, NREM and REM parasomnias: data from a tertiary sleep and epilepsy unit. (18410366)
2008
20
Osteocrin is a specific ligand of the natriuretic Peptide clearance receptor that modulates bone growth. (17951249)
2007
21
Historic milestones of Hirschsprung's disease (commemorating the 90th anniversary of Professor Harald Hirschsprung's death). (17208575)
2007
22
Cdc42 regulates cofilin during the establishment of neuronal polarity. (18045906)
2007
23
Parental smoking impairs vaccine responses in children with atopic genotypes. (17291854)
2007
24
Factors affecting the prognosis of patients with esophageal cancer undergoing salvage surgery after definitive chemoradiotherapy. (16550581)
2006
25
Gene mutation of high affinity immunoglobulin E receptor beta-chain in children with asthma]. (17178032)
2006
26
Evaluation of antipsychotic drugs as inhibitors of multidrug resistance transporter P-glycoprotein. (16810505)
2006
27
Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. (16297596)
2005
28
The future of statins: Alzheimer's disease? (16548662)
2005
29
Novel vaccines for the treatment of gastrointestinal cancers. (16396151)
2005
30
Trial of trefoil factor 3 enemas, in combination with oral 5-aminosalicylic acid, for the treatment of mild-to-moderate left-sided ulcerative colitis. (15932366)
2005
31
A case of refractory anemia with 17p- syndrome following azathioprine treatment for heart transplantation. (14961032)
2004
32
P-cadherin is up-regulated by the antiestrogen ICI 182,780 and promotes invasion of human breast cancer cells. (15548699)
2004
33
Nephropathy associated with arterial hypertension: genes and Barker's hypothesis]. (12439839)
2002
34
The production and clinical evaluation of macrophage colony-stimulating factor and macrophage chemoattractant protein-1 in human follicular fluids. (11211941)
2001
35
Risk factors and prevention of the acquisition and transmission of glycopeptide resistant enterococci]. (11692752)
2001
36
Tyrosine-phosphorylated plakoglobin is associated with desmogleins but not desmoplakin after epidermal growth factor receptor activation. (11335725)
2001
37
Three-step purification of a fragment of the large immunophilin FKBP52. (10681043)
2000
38
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. (11078852)
2000
39
Increased levels of IL-5 positive peripheral blood eosinophils and lymphocytes in mild asthmatics after allergen inhalation provocation. (10231318)
1999
40
Deep intronic mutations are rarely a cause of hemophilia B. (10477436)
1999
41
Localization of the binding site for transforming growth factor-beta in human alpha2-macroglobulin to a 20-kDa peptide that also contains the bait region. (9582381)
1998
42
Acridine orange staining for rapid diagnosis of Acanthamoeba keratitis. (9587842)
1998
43
Etiology and pathogenesis of gestational diabetes. (9704223)
1998
44
Protective immune responses to the E and NS1 proteins of Murray Valley encephalitis virus in hybrids of flavivirus-resistant mice. (8683218)
1996
45
Identification and analysis of the ret proto-oncogene promoter region in neuroblastoma cell lines and medullary thyroid carcinomas from MEN2A patients. (1350670)
1992
46
The product of the c-ets-1 proto-oncogene and the related Ets2 protein act as transcriptional activators of the long terminal repeat of human T cell leukemia virus HTLV-1. (2209540)
1990
47
Acute myelomonocytic leukemia associated with nephrotic syndrome. A case report with immunological studies. (6575268)
1983
48
Estimation of the local production of antibodies to Treponema pallidum in the central nervous system of patients with neurosyphilis. (6339001)
1983
49
Effect of the co-existence of galactosyl and phosphomannosyl residues on beta-hexosaminidase on the processing and transport of the enzyme in mucolipidosis I fibroblasts. (6226317)
1983
50
Ophthalmomyiasis interna caused by Cuterebra larva. (5381295)
1969

Variations for Exstrophy of the Bladder

About this section

Expression for genes affiliated with Exstrophy of the Bladder

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

Pathways for genes affiliated with Exstrophy of the Bladder

About this section

GO Terms for genes affiliated with Exstrophy of the Bladder

About this section

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

About this section
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