EEC
MCID: BLD129
MIFTS: 41

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex (EEC)

Categories: Fetal 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 20 58 29 6
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex 20 58
Beec 20 58
Eec 20 58
Bladder Exstrophy and Epispadias Complex 70

Characteristics:

Orphanet epidemiological data:

58
exstrophy-epispadias complex
Inheritance: Multigenic/multifactorial; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080173
ICD10 via Orphanet 33 Q64.1
UMLS via Orphanet 71 C1838703
Orphanet 58 ORPHA322
UMLS 70 C1838703

Summaries for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

GARD : 20 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 bladder exstrophy and epispadias complex and bladder exstrophy. An important gene associated with Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is WNT3 (Wnt Family Member 3), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart, lung and appendix.

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 177)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy and epispadias complex 32.6 WNT3 LRRC37A2 ISL1
2 bladder exstrophy 32.0 WNT3 SLC20A1 LZTR1 ISL1 CNTNAP3B
3 cloacal exstrophy 32.0 SLC20A1 PRPF38A CNTNAP3B CNTNAP3 BMP4
4 cleft lip 30.5 WNT3 SHH BMP4
5 focal dermal hypoplasia 29.6 WNT3 SHH
6 atrial heart septal defect 29.4 LZTR1 ISL1 BMP4
7 tetralogy of fallot 28.9 SHH LZTR1 ISL1 BMP4
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.8
9 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.4
10 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.3
11 adult syndrome 11.1
12 eec syndrome and related disorders 11.1
13 limb-mammary syndrome 11.1
14 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.0
15 hartsfield syndrome 10.9
16 ectodermal dysplasia 10.8
17 split-hand/foot malformation 1 10.8
18 isolated split hand-split foot malformation 10.8
19 cleft lip/palate 10.6
20 urinary tract infection 10.6
21 vesicoureteral reflux 1 10.5
22 acute cystitis 10.5
23 inguinal hernia 10.5
24 isolated epispadias 10.4
25 cleft palate, isolated 10.4
26 pelvic organ prolapse 10.4
27 neural tube defects 10.4
28 sexual disorder 10.4
29 pyelonephritis 10.4
30 impotence 10.4
31 tetraamelia syndrome 1 10.3 WNT3 LRRC37A2
32 tetraamelia syndrome 10.3 WNT3 LRRC37A2
33 amelia 10.3 WNT3 LRRC37A2
34 chromosome 2q35 duplication syndrome 10.3
35 urolithiasis 10.3
36 urethral stricture 10.3
37 47,xyy 10.3
38 tp63-related disorders 10.2
39 orofacial clefting syndrome 10.2
40 split hand-foot malformation 10.2
41 autosomal dominant non-syndromic intellectual disability 2 10.2 CNTNAP3B CNTNAP3
42 urethral diverticulum 10.2 UPK3A CNTNAP3
43 cat eye syndrome 10.1
44 hirschsprung disease 1 10.1
45 polykaryocytosis inducer 10.1
46 currarino syndrome 10.1
47 digeorge syndrome 10.1
48 down syndrome 10.1
49 anus, imperforate 10.1
50 prostatic hyperplasia, benign 10.1

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 Phase I Study of Endoscopically Injected Muscle Derived Cells in Participants With Exstrophy-epispadias Complex Related Urinary Incontinence Terminated NCT01011777 Phase 1 MDC
2 Male Bladder Exstrophy in Adulthood : What Sexuality and Fertility Prospects ? 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 29

Anatomical Context for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

40
Heart, Lung, Appendix, Smooth Muscle, Kidney, Eye, Bone

Publications for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

(show top 50) (show all 319)
# Title Authors PMID Year
1
Variant of Bladder Exstrophy With an Intact Penis: Surgical Options and Approach. 61
33296699 2021
2
PREGNANCY IN PATIENTS WITH EXSTROPHY-EPISPADIAS COMPLEX: ARE HIGHER RATES OF COMPLICATIONS AND SPONTANEOUS ABORTION INEVITABLE? 61
33662406 2021
3
Long-term sexual outcomes in patients with exstrophy-epispadias complex. 61
32161399 2021
4
Pedicled Anterolateral Thigh and Radial Forearm Free Flap Phalloplasty for Penile Reconstruction in Patients With Bladder Exstrophy. 61
33026935 2021
5
Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes. 61
33223423 2021
6
Single-staged male bladder exstrophy-epispadias complex reconstruction with pubic bone adaptation without osteotomy: 15-year single-center experience. 61
32980929 2021
7
Case Report: Recurrent Placental Abruption During Pregnancy in a Patient With Pseudoexstrophy. 61
33575266 2021
8
Long-term Kidney Outcomes in Exstrophy-Epispadias Complex: How Patients Present as Adults. 61
33516830 2021
9
New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex. 61
33049233 2021
10
Impact of bilateral ureteral reimplantation at the time of complete primary repair of bladder exstrophy on reflux rates, renogram abnormalities and bladder capacity. 61
33583747 2021
11
Meeting report on the NIDDK/AUA Workshop on Congenital Anomalies of External Genitalia: challenges and opportunities for translational research. 61
33097421 2020
12
Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management. 61
33347773 2020
13
[High risk pregnancy in patients with extrophy-epispadia complex: Uro-gynecological characteristics and management.] 61
33144535 2020
14
Salvage perineal-retropubic AUS cuff in paraplegic patient with exstrophy-epispadias complex after previous cuff erosion at bladder neck. 61
32489903 2020
15
Outcomes of inflatable penile prosthesis insertion using a neotunica allograft in neophalluses of patients on the bladder exstrophy-epispadias complex spectrum. 61
32798107 2020
16
Variants in ALX4 and their association with genitourinary defects. 61
32385972 2020
17
Fertility and sexuality issues in congenital lifelong urology patients: female aspects. 61
32989556 2020
18
Re: The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. J Pediatr Urol. 2018. 61
32653310 2020
19
Delaying reclosure of bladder exstrophy leads to gradual decline in bladder capacity. 61
32340883 2020
20
Health-Related Quality of Life in Patients with the Bladder Exstrophy-Epispadias Complex and Relationship to Incontinence and Sexual Factors: A Review of the Recent Literature. 61
32564346 2020
21
Bladder Herniation as an Auto-Augmentation Technique in Bladder Exstrophy: Initial Experience in Patients with Small Bladder Plate. 61
32105656 2020
22
Challenges in pediatric urologic practice: a lifelong view. 61
32328778 2020
23
Long-term Follow-up of Exstrophy-epispadias Complex from a Lower-middle Income Country: A Case Report and Review of the Literature. 61
32432001 2020
24
Penile Disassembly in Complete Primary Repair of Bladder Exstrophy: Time for Re-evaluation? 61
31887351 2020
25
Modern Management of the Failed Bladder Exstrophy Closure: A 50-yr Experience. 61
30292419 2020
26
Fertility and sexuality issues in congenital lifelong urology patients: male aspects. 61
32067073 2020
27
Utility of Skin Grafting and Tissue Expansion in Penile Reconstruction for the Exstrophy-Epispadias Complex. 61
31730942 2020
28
Urological, Sexual, and Quality of Life Evaluation of Adult Patients With Exstrophy-Epispadias Complex: Long-term Results From a Dutch Cohort. 61
31697953 2020
29
Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective. 61
31437120 2020
30
SLC20A1 Is Involved in Urinary Tract and Urorectal Development. 61
32850778 2020
31
Treatment Strategies and Outcome of the Exstrophy-Epispadias Complex in Germany: Data From the German CURE-Net. 61
32509709 2020
32
Penile Prosthesis Implantation in an Exstrophy-Epispadias Complex Patient: A Case Report. 61
31542379 2019
33
The failed bladder closure in cloacal exstrophy: Management and outcomes. 61
30879754 2019
34
Complex abdominal wall reconstruction combined with bladder closure in OEIS complex. 61
31079865 2019
35
The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice. 61
31003729 2019
36
Anteroposterior Duplicated Exstrophy: A Case Report. 61
31176738 2019
37
Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database. 61
31176739 2019
38
Use of small intestinal submucosa for corporal body grafting in cases of epispadias and epispadias/exstrophy complex. 61
31221598 2019
39
Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy. 61
31104999 2019
40
Isolated bladder exstrophy in prenatal diagnosis. 61
31115647 2019
41
Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation. 61
31286274 2019
42
Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association. 61
31296310 2019
43
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene. 61
31044557 2019
44
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. 61
30725391 2019
45
Re: The Role of Human Acellular Dermis in Preventing Fistulas after Bladder Neck Transection in the Exstrophy-Epispadias Complex. 61
30747880 2019
46
Complete penile disassembly in epispadias repair. 61
30796727 2019
47
Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. 61
30029844 2019
48
Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience. 61
30576745 2019
49
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. 61
30628148 2019
50
Split-appendix Technique for Simultaneous Use in the Mitrofanoff Principle and Posterior Urethral Substitution in a Bladder Exstrophy-Epispadias Complex Patient. 61
30686891 2019

Variations for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT3 , LRRC37A2 NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) SNV Likely pathogenic 189347 rs786205887 GRCh37: 17:44851085-44851085
GRCh38: 17:46773719-46773719
2 WNT7A NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr) SNV Uncertain significance 189350 rs772935313 GRCh37: 3:13896112-13896112
GRCh38: 3:13854615-13854615
3 WNT11 NM_004626.3(WNT11):c.947G>A (p.Arg316His) SNV Uncertain significance 189352 rs758816226 GRCh37: 11:75898227-75898227
GRCh38: 11:76187183-76187183
4 FZD5 NM_003468.4(FZD5):c.267G>A (p.Met89Ile) SNV Uncertain significance 189354 rs756316536 GRCh37: 2:208633197-208633197
GRCh38: 2:207768473-207768473
5 LRP10 NM_014045.5(LRP10):c.754G>A (p.Gly252Ser) SNV Uncertain significance 189356 rs568022752 GRCh37: 14:23344911-23344911
GRCh38: 14:22875702-22875702
6 WNT3 , LRRC37A2 NM_030753.5(WNT3):c.638G>A (p.Gly213Asp) SNV Uncertain significance 189357 rs786205889 GRCh37: 17:44846116-44846116
GRCh38: 17:46768750-46768750
7 ISL1 NM_002202.3(ISL1):c.137C>G (p.Ala46Gly) SNV Uncertain significance 374407 rs755382547 GRCh37: 5:50680483-50680483
GRCh38: 5:51384649-51384649
8 ISL1 NM_002202.3(ISL1):c.479-4G>A SNV Uncertain significance 373894 rs2303750 GRCh37: 5:50685476-50685476
GRCh38: 5:51389642-51389642
9 WNT10A NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) SNV Uncertain significance 189351 rs368280129 GRCh37: 2:219754816-219754816
GRCh38: 2:218890094-218890094
10 WNT6 NM_006522.4(WNT6):c.570G>A (p.Arg190=) SNV Likely benign 189349 rs786205888 GRCh37: 2:219736475-219736475
GRCh38: 2:218871753-218871753

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 11.65 WNT3 ISL1 BMP4
2 11.56 SHH ISL1 BMP4
3 11.23 SHH ISL1 BMP4
4 10.46 SHH ISL1 BMP4
5 9.86 SHH BMP4

GO Terms for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.78 UPK3A SHH BMP4
2 cell fate commitment GO:0045165 9.65 WNT3 SHH BMP4
3 embryonic forelimb morphogenesis GO:0035115 9.64 WNT3 SHH
4 pituitary gland development GO:0021983 9.63 ISL1 BMP4
5 pancreas development GO:0031016 9.63 SHH ISL1
6 branching morphogenesis of an epithelial tube GO:0048754 9.62 SHH BMP4
7 outflow tract septum morphogenesis GO:0003148 9.62 ISL1 BMP4
8 vasculature development GO:0001944 9.61 SHH BMP4
9 lung morphogenesis GO:0060425 9.6 SHH BMP4
10 embryonic morphogenesis GO:0048598 9.59 SHH BMP4
11 spinal cord motor neuron differentiation GO:0021522 9.58 SHH ISL1
12 anterior/posterior axis specification GO:0009948 9.58 WNT3 BMP4
13 epithelial tube branching involved in lung morphogenesis GO:0060441 9.57 SHH BMP4
14 cardiac right ventricle morphogenesis GO:0003215 9.56 ISL1 BMP4
15 dorsal/ventral neural tube patterning GO:0021904 9.55 SHH BMP4
16 limb bud formation GO:0060174 9.54 WNT3 SHH
17 positive regulation of cell differentiation GO:0045597 9.54 SHH ISL1 BMP4
18 smooth muscle tissue development GO:0048745 9.52 SHH BMP4
19 secondary heart field specification GO:0003139 9.51 ISL1 BMP4
20 metanephric collecting duct development GO:0072205 9.49 SHH BMP4
21 telencephalon regionalization GO:0021978 9.46 SHH BMP4
22 lymphoid progenitor cell differentiation GO:0002320 9.43 SHH BMP4
23 branching involved in prostate gland morphogenesis GO:0060442 9.4 SHH BMP4
24 neuron fate commitment GO:0048663 9.33 SHH ISL1 BMP4
25 epithelial-mesenchymal cell signaling GO:0060684 9.32 SHH BMP4
26 trachea development GO:0060438 9.26 SHH BMP4
27 embryonic hindlimb morphogenesis GO:0035116 9.13 WNT3 SHH BMP4
28 anatomical structure formation involved in morphogenesis GO:0048646 8.8 WNT3 SHH BMP4

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription corepressor binding GO:0001226 8.62 WIZ THAP7

Sources for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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