MCID: BLD129
MIFTS: 34

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Categories: Fetal diseases, Gastrointestinal diseases, Muscle diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

MalaCards integrated aliases for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex:

Name: Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 12 15
Exstrophy-Epispadias Complex 12 54 60 30 6
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex 54 60
Beec 54 60
Eec 54 60
Bladder Exstrophy and Epispadias Complex 74

Characteristics:

Orphanet epidemiological data:

60
exstrophy-epispadias complex
Inheritance: Multigenic/multifactorial; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0080173
ICD10 via Orphanet 35 Q64.1
UMLS via Orphanet 75 C1838703
Orphanet 60 ORPHA322
UMLS 74 C1838703

Summaries for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

NIH Rare Diseases : 54 Exstrophy-epispadias complex (EEC) refers to a spectrum of birth defects 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. In normal development, the cloacal membrane temporarily separates the cloaca (final part of the intestine) into urogenital and anal regions, and it ruptures after fusing with a structure known as the urogenital septum, which is made up of the tissue that will form the abdominal muscles (mesoderm). If the cloacal membrane does not fuse correctly with the urogenital septum, it does not form the mesoderm and, as a result, the abdominal muscles do not form. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy, or cloacal exstrophy. 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 EEC. Treatment may involve several surgeries to repair the abdominal wall and any associated malformations. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.

MalaCards based summary : Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex, also known as exstrophy-epispadias complex, is related to exstrophy of bladder and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1. An important gene associated with Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is WIZ (WIZ Zinc Finger), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include prostate, appendix and testes.

Disease Ontology : 12 A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.

Related Diseases for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 exstrophy of bladder 29.4 CELSR3 CNTNAP3 ISL1 KRT13 MMP23B PARM1
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.4
3 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.0
4 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.9
5 cloacal exstrophy 11.8
6 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.5
7 adult syndrome 11.4
8 limb-mammary syndrome 11.4
9 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.2
10 hartsfield syndrome 11.0
11 isolated split hand-split foot malformation 10.7
12 split-hand/foot malformation 1 10.7
13 ectodermal dysplasia 10.7
14 cleft lip 10.5
15 cleft lip/palate 10.4
16 vesicoureteral reflux 1 10.4
17 pelvic organ prolapse 10.3
18 prostate cancer 10.3
19 down syndrome 10.3
20 prostate cancer, hereditary, 8 10.3
21 prostate cancer, hereditary, 6 10.3
22 hypospadias 10.3
23 triple x syndrome 10.3
24 duplication of urethra 10.3
25 cleft palate, isolated 10.2
26 choanal atresia, posterior 10.0
27 papilloma 10.0
28 ankyloglossia 9.9
29 esterase c 9.9
30 lacrimoauriculodentodigital syndrome 9.9
31 ulnar-mammary syndrome 9.9
32 tetralogy of fallot 9.9
33 trigeminal neuralgia 9.9
34 white sponge nevus 1 9.9
35 polycythemia vera 9.9
36 enhanced s-cone syndrome 9.9
37 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 9.9
38 focal dermal hypoplasia 9.9
39 fryns microphthalmia syndrome 9.9
40 asthma 9.9
41 split-hand/foot malformation 4 9.9
42 endometrial cancer 9.9
43 lymphatic malformation 7 9.9
44 breast reconstruction 9.9
45 lymphoma 9.9
46 microphthalmia 9.9
47 cholesteatoma of middle ear 9.9
48 oligohydramnios 9.9
49 anodontia 9.9
50 farmer's lung 9.9

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



Diseases related to Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Symptoms & Phenotypes for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Drugs & Therapeutics for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced Incontinence Recruiting NCT01011777 Phase 1 MDC
2 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Enrolling by invitation NCT01878500 Not Applicable
3 Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality) Withdrawn NCT02759705

Search NIH Clinical Center for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Genetic Tests for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Genetic tests related to Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex:

# Genetic test Affiliating Genes
1 Exstrophy-Epispadias Complex 30

Anatomical Context for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

MalaCards organs/tissues related to Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex:

42
Prostate, Appendix, Testes, Smooth Muscle, Lung, Breast

Publications for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Articles related to Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex:

(show top 50) (show all 123)
# Title Authors Year
1
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. ( 30628148 )
2019
2
Split-appendix Technique for Simultaneous Use in the Mitrofanoff Principle and Posterior Urethral Substitution in a Bladder Exstrophy-Epispadias Complex Patient. ( 30686891 )
2019
3
Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research. ( 30725391 )
2019
4
Re: The Role of Human Acellular Dermis in Preventing Fistulas after Bladder Neck Transection in the Exstrophy-Epispadias Complex. ( 30747880 )
2019
5
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study. ( 30076940 )
2019
6
Variant Presentations of the Exstrophy-Epispadias Complex: A 40 Year Experience. ( 30576745 )
2018
7
EDITORIAL COMMENT for manuscript: "Variant Presentations of the Exstrophy-Epispadias Complex: A 40 Year Experience" Manuscript Number: URL-D-18-01394R1. ( 30578792 )
2018
8
Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany. ( 30619788 )
2018
9
Autophagy, Apoptosis, and Cell Proliferation in Exstrophy-Epispadias Complex. ( 28986224 )
2018
10
Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network. ( 29126846 )
2018
11
Male Sexuality, Fertility, and Urinary Continence in Bladder Exstrophy-Epispadias Complex. ( 29502980 )
2018
12
Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog. ( 29504860 )
2018
13
A Model for Sustained Collaboration to Address the Unmet Global Burden of Bladder Exstrophy-Epispadias Complex and Penopubic Epispadias: The International Bladder Exstrophy Consortium. ( 29516095 )
2018
14
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. ( 29704585 )
2018
15
The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. ( 30031742 )
2018
16
Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex. ( 30031829 )
2018
17
Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review. ( 30254955 )
2018
18
Patient-Reported Impact of Pelvic Organ Prolapse on Continence and Sexual Function in Women With Exstrophy-Epispadias Complex. ( 28277470 )
2017
19
Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. ( 27480467 )
2017
20
Comparing the bulking effect of calcium hydroxyapatite and Deflux injection into the bladder neck for improvement of urinary incontinence in bladder exstrophy-epispadias complex. ( 27896576 )
2017
21
Low-dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys With Bladder Exstrophy-epispadias Complex. ( 28039050 )
2017
22
The Surgical Management of Bladder Polyps in the Setting of Exstrophy Epispadias Complex. ( 28652161 )
2017
23
Role of routine cystoscopy and cystography in exstrophy-epispadias complex. ( 26653074 )
2016
24
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. ( 26862292 )
2016
25
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. ( 27013921 )
2016
26
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. ( 27138190 )
2016
27
Re: Successful Pregnancy in Patients with Exstrophy-Epispadias Complex: A University of Washington Experience. ( 27191110 )
2016
28
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. ( 27290615 )
2016
29
Re: Pediatric Surgical Complications of Major Genitourinary Reconstruction in the Exstrophy-Epispadias Complex. ( 27597107 )
2016
30
The long-term outcomes after staged repair of exstrophy-epispadias complex. ( 27695206 )
2016
31
Multidisciplinary approach to an unusual adult presentation of exstrophy-epispadias complex. ( 25569056 )
2015
32
Pediatric surgical complications of major genitourinary reconstruction in the exstrophy-epispadias complex. ( 25598117 )
2015
33
Successful pregnancy in patients with exstrophy-epispadias complex: A University of Washington experience. ( 26092092 )
2015
34
Re: Emotional and Behavioral Functioning in Children with Bladder Exstrophy-Epispadias Complex: A Developmental Perspective. ( 26292892 )
2015
35
Exstrophy-Epispadias Complex in a Newborn: Case Report and Review of the Literature. ( 26495181 )
2015
36
Bladder exstrophy-epispadias complex with adenocarcinoma in an adult patient: A case report. ( 26668615 )
2015
37
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality? ( 25200913 )
2014
38
Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: a developmental perspective. ( 23962430 )
2014
39
Sub-urothelial polyp enucleation resection and urothelial auto-augmentation cystoplasty: a simple method for bladder exstrophy-epispadias complex reconstruction in bladder plate polyposis. ( 24802675 )
2014
40
Urologic complications of major genitourinary reconstruction in the exstrophy-epispadias complex. ( 25082713 )
2014
41
Modern management of the exstrophy-epispadias complex. ( 25374956 )
2014
42
Exstrophy-epispadias complex presenting in adulthood: a single-center review of presentation, management, and outcomes. ( 25443942 )
2014
43
Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study. ( 23201374 )
2013
44
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding. ( 23525294 )
2013
45
New insights into the pathogenesis of bladder exstrophy-epispadias complex. ( 23743131 )
2013
46
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. ( 23913486 )
2013
47
No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. ( 24314177 )
2013
48
Spontaneous exstrophy-epispadias complex in a goat-kid. ( 22881711 )
2012
49
Testicular tumors in patients with exstrophy-epispadias complex. ( 22906645 )
2012
50
Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex. ( 23284286 )
2012

Variations for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

ClinVar genetic disease variations for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 FZD5 NM_003468.3(FZD5): c.267G> A (p.Met89Ile) single nucleotide variant Uncertain significance rs756316536 GRCh37 Chromosome 2, 208633197: 208633197
2 FZD5 NM_003468.3(FZD5): c.267G> A (p.Met89Ile) single nucleotide variant Uncertain significance rs756316536 GRCh38 Chromosome 2, 207768473: 207768473
3 WNT6 NM_006522.3(WNT6): c.570G> A (p.Arg190=) single nucleotide variant Likely benign rs786205888 GRCh37 Chromosome 2, 219736475: 219736475
4 WNT6 NM_006522.3(WNT6): c.570G> A (p.Arg190=) single nucleotide variant Likely benign rs786205888 GRCh38 Chromosome 2, 218871753: 218871753
5 WNT10A NM_025216.2(WNT10A): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs368280129 GRCh37 Chromosome 2, 219754816: 219754816
6 WNT10A NM_025216.2(WNT10A): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs368280129 GRCh38 Chromosome 2, 218890094: 218890094
7 WNT7A NM_004625.3(WNT7A): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance rs772935313 GRCh37 Chromosome 3, 13896112: 13896112
8 WNT7A NM_004625.3(WNT7A): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance rs772935313 GRCh38 Chromosome 3, 13854615: 13854615
9 WNT11 NM_004626.2(WNT11): c.947G> A (p.Arg316His) single nucleotide variant Uncertain significance rs758816226 GRCh38 Chromosome 11, 76187183: 76187183
10 WNT11 NM_004626.2(WNT11): c.947G> A (p.Arg316His) single nucleotide variant Uncertain significance rs758816226 GRCh37 Chromosome 11, 75898227: 75898227
11 LRP10 NM_014045.4(LRP10): c.754G> A (p.Gly252Ser) single nucleotide variant Uncertain significance rs568022752 GRCh37 Chromosome 14, 23344911: 23344911
12 LRP10 NM_014045.4(LRP10): c.754G> A (p.Gly252Ser) single nucleotide variant Uncertain significance rs568022752 GRCh38 Chromosome 14, 22875702: 22875702
13 WNT3 NM_030753.4(WNT3): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs786205889 GRCh37 Chromosome 17, 44846116: 44846116
14 WNT3 NM_030753.4(WNT3): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs786205889 GRCh38 Chromosome 17, 46768750: 46768750
15 WNT3 NM_030753.4(WNT3): c.271T> C (p.Cys91Arg) single nucleotide variant Likely pathogenic rs786205887 GRCh37 Chromosome 17, 44851085: 44851085
16 WNT3 NM_030753.4(WNT3): c.271T> C (p.Cys91Arg) single nucleotide variant Likely pathogenic rs786205887 GRCh38 Chromosome 17, 46773719: 46773719
17 ISL1 NM_002202.2(ISL1): c.479-4G> A single nucleotide variant Uncertain significance rs2303750 GRCh37 Chromosome 5, 50685476: 50685476
18 ISL1 NM_002202.2(ISL1): c.479-4G> A single nucleotide variant Uncertain significance rs2303750 GRCh38 Chromosome 5, 51389642: 51389642
19 ISL1 NM_002202.2(ISL1): c.137C> G (p.Ala46Gly) single nucleotide variant Uncertain significance rs755382547 GRCh37 Chromosome 5, 50680483: 50680483
20 ISL1 NM_002202.2(ISL1): c.137C> G (p.Ala46Gly) single nucleotide variant Uncertain significance rs755382547 GRCh38 Chromosome 5, 51384649: 51384649

Expression for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

Pathways for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.66 KRT13 SYNM

GO Terms for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Sources for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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