MCID: EXS013
MIFTS: 33

Exstrophy-Epispadias Complex malady

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

Aliases & Classifications for Exstrophy-Epispadias Complex

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Sources:
46NIH Rare Diseases, 52Orphanet, 23GeneTests, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Exstrophy-Epispadias Complex:

Name: Exstrophy-Epispadias Complex 46 52
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex 46 52
Rudiger Syndrome 1 46 66
Eec Syndrome 46 23
Beec 46 52
Eec 46 52
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 66
 
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 23
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 46
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 46
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 23
Bladder Exstrophy and Epispadias Complex 66
Ectrodactyly-Cleft Lip/palate Syndrome 46
Walker-Clodius Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
bladder exstrophy-epispadias-cloacal extrophy complex:
Inheritance: Multigenic/multifactorial; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA322
ICD10 via Orphanet29 Q64.1

Summaries for Exstrophy-Epispadias Complex

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NIH Rare Diseases:46 Exstrophy-epispadias complex (eec) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. eec is characterized by a visible defect of the lower abdominal wall and other problems. the defect occurs due to a rupture of a fetal tissue known as the cloacal membrane during the first trimester of pregnancy. this results in the abnormal development of the abdominal wall of the fetus. the exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy or cloacal exstrophy. therefore, depending on severity, eec may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. there is no known cause for this condition. treatment may involve several surgeries to repair the abdominal wall and any associated malformation. the university of michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca. last updated: 3/9/2016

MalaCards based summary: Exstrophy-Epispadias Complex, also known as bladder exstrophy-epispadias-cloacal extrophy complex, is related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 and epispadias, and has symptoms including photophobia An important gene associated with Exstrophy-Epispadias Complex is TP63 (Tumor Protein P63), and among its related pathways is Endothelin. Affiliated tissues include prostate, appendix and smooth muscle.

Related Diseases for Exstrophy-Epispadias Complex

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Diseases related to Exstrophy-Epispadias Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 312.7
2epispadias11.2
3ectrodactyly and ectodermal dysplasia without cleft lip/palate11.0
4ectodermal dysplasia10.5
5adult syndrome10.5
6omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex10.4
7urethritis10.3
8prostatitis10.3
9vesicoureteral reflux10.3
10cleft lip10.3
11prostate cancer10.1
12hypospadias10.1
13down syndrome10.1
14adenocarcinoma10.1
15triple x syndrome10.1
16benign mesenchymoma10.1MNX1, TP63
17split hand10.0
18hartsfield syndrome9.9
19choanal atresia9.9
20split foot9.9
21hyperphalangy9.8CKAP4, TP63
22neuropathy, hereditary thermosensitive9.8CALCA, NPY
23limb-mammary syndrome9.7
24ladd syndrome9.7
25tetralogy of fallot9.7
26ulnar-mammary syndrome9.7
27focal dermal hypoplasia9.7
28trigeminal neuralgia9.7
29b-cell lymphomas9.7
30breast reconstruction9.7
31orofacial cleft9.7
32lymphoma9.7
33microphthalmia9.7
34oligohydramnios9.7
35anodontia9.7
36farmer's lung9.7
37hypogonadism9.7
38retinitis9.7
39polycythemia9.7
40diabetes insipidus9.7
41hydrops fetalis9.7
42freire-maia odontotrichomelic syndrome9.7
43anophthalmia/microphthalmia9.7
44abdominal wall defect9.7
45monosomy 219.7
46split hand-split foot malformation9.7
47constrictive pericarditis9.7CALCA, NPY
48carcinoma of the vocal tract9.7CALCA, NPY
49tracheal stenosis9.7CALCA, NPY
50dengue hemorrhagic fever9.6CALCA, NPY

Graphical network of the top 20 diseases related to Exstrophy-Epispadias Complex:



Diseases related to exstrophy-epispadias complex

Symptoms for Exstrophy-Epispadias Complex

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UMLS symptoms related to Exstrophy-Epispadias Complex:


photophobia

Drugs & Therapeutics for Exstrophy-Epispadias Complex

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced IncontinenceNot yet recruitingNCT01011777Phase 1
2Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRIEnrolling by invitationNCT01878500
3Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality)Not yet recruitingNCT02759705

Search NIH Clinical Center for Exstrophy-Epispadias Complex

Genetic Tests for Exstrophy-Epispadias Complex

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Genetic tests related to Exstrophy-Epispadias Complex:

id Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (non-Tp63-Related)23
2 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome23 TP63

Anatomical Context for Exstrophy-Epispadias Complex

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MalaCards organs/tissues related to Exstrophy-Epispadias Complex:

34
Prostate, Appendix, Smooth muscle

Animal Models for Exstrophy-Epispadias Complex or affiliated genes

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Publications for Exstrophy-Epispadias Complex

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Articles related to Exstrophy-Epispadias Complex:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Role of routine cystoscopy and cystography in exstrophy-epispadias complex. (26653074)
2016
2
Re: Successful Pregnancy in Patients with Exstrophy-Epispadias Complex: A University of Washington Experience. (27191110)
2016
3
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. (27290615)
2016
4
Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. (27480467)
2016
5
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. (26862292)
2016
6
Exstrophy-Epispadias Complex in a Newborn: Case Report and Review of the Literature. (26495181)
2015
7
Bladder exstrophy-epispadias complex with adenocarcinoma in an adult patient: A case report. (26668615)
2015
8
Successful pregnancy in patients with exstrophy-epispadias complex: A University of Washington experience. (26092092)
2015
9
Exstrophy-epispadias complex presenting in adulthood: a single-center review of presentation, management, and outcomes. (25443942)
2014
10
Bladder exstrophy-epispadias complex and triple-X syndrome: Incidental finding or causality? (25200913)
2014
11
Modern management of the exstrophy-epispadias complex. (25374956)
2014
12
Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: A developmental perspective. (23962430)
2013
13
Role of bulking agents in bladder exstrophy-epispadias complexes. (23519849)
2013
14
New insights into the pathogenesis of bladder exstrophy-epispadias complex. (23743131)
2013
15
No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. (24314177)
2013
16
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. (23913486)
2013
17
Exstrophy epispadias complex- Issues beyond the initial repair. (23450435)
2012
18
Spontaneous exstrophy-epispadias complex in a goat-kid. (22881711)
2012
19
Insertion/deletion polymorphisms in the I9Np63 promoter are a risk factor for bladder exstrophy epispadias complex. (23284286)
2012
20
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. (21679965)
2011
21
A brief primer for pediatric urologists and surgeons on developmental psychopathology in the exstrophy-epispadias complex. (21453860)
2011
22
Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. (21431277)
2011
23
Pregnancy management in women within the bladder-exstrophy-epispadias complex (BEEC) after continent urinary diversion. (21698450)
2011
24
Embryology and bony and pelvic floor anatomy in the bladder exstrophy-epispadias complex. (21453848)
2011
25
Sexual function and fertility issues in cases of exstrophy epispadias complex. (21369401)
2010
26
Quality of life in adults with bladder exstrophy-epispadias complex. (20952009)
2010
27
Biometry of the pubovisceral muscle and levator hiatus assessed by three-dimensional ultrasound in females with bladder exstrophy-epispadias complex after functional reconstruction. (19565527)
2009
28
Exstrophy-epispadias complex associated with complete urethral duplication: preoperative diagnosis is a must. (19616283)
2009
29
The exstrophy-epispadias complex. (19878548)
2009
30
Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. (18295266)
2008
31
Genital and reproductive function in males after functional reconstruction of the exstrophy-epispadias complex--long-term results. (18585763)
2008
32
Prostate cancer in patients with the bladder exstrophy-epispadias complex: insights and outcomes. (18308374)
2008
33
In vitro fertilization and the cloacal/bladder exstrophy-epispadias complex: a continuing association. (18947761)
2007
34
Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. (17937426)
2007
35
Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. (17041930)
2006
36
Gender-associated differences in the psychosocial and developmental outcome in patients affected with the bladder exstrophy-epispadias complex. (16430645)
2006
37
Applications of the modified Cantwell-Ransley epispadias repair in the exstrophy-epispadias complex. (18947564)
2005
38
Differences in embryogenesis of epispadias, exstrophy-epispadias complex and hypospadias. (18947553)
2005
39
Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. (15610117)
2004
40
Prevention of vesicoureteral reflux at the time of complete primary repair of the exstrophy-epispadias complex. (15368695)
2004
41
In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: is there an association? (12629406)
2003
42
Surgical reconstruction of exstrophy-epispadias complex: analysis of 13 patients. (12165019)
2002
43
A new technique for repair of exstrophy-epispadias complex. (12415413)
2002
44
Combined bladder neck reconstruction and epispadias repair for exstrophy-epispadias complex. (11371947)
2001
45
Combined bladder neck, urethral and penile reconstruction in boys with the exstrophy-epispadias complex. (10971283)
2000
46
The exstrophy-epispadias complex in the new millennium--science, practice and policy. (10492228)
1999
47
Morphometric analysis of smooth muscle in the exstrophy-epispadias complex. (8683792)
1996
48
Female genito-urethroplasty and submucosal periurethral collagen injection as adjunctive procedures for continence in the exstrophy-epispadias complex. Preliminary results. (8477321)
1993
49
Glutaraldehyde cross-linked bovine collagen in exstrophy/epispadias complex. (8326610)
1993
50
Surgical embryology of the exstrophy-epispadias complex. (4610852)
1974

Variations for Exstrophy-Epispadias Complex

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Expression for genes affiliated with Exstrophy-Epispadias Complex

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Search GEO for disease gene expression data for Exstrophy-Epispadias Complex.

Pathways for genes affiliated with Exstrophy-Epispadias Complex

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Pathways related to Exstrophy-Epispadias Complex according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0CALCA, NPY

GO Terms for genes affiliated with Exstrophy-Epispadias Complex

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Biological processes related to Exstrophy-Epispadias Complex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.2CALCA, CKAP4
2neuropeptide signaling pathwayGO:00072189.0CALCA, NPY
3feeding behaviorGO:00076319.0CALCA, NPY

Sources for Exstrophy-Epispadias Complex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet