EEC
MCID: BLD129
MIFTS: 41

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex (EEC)

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 52 58 29 6
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex 52 58
Beec 52 58
Eec 52 58
Bladder Exstrophy and Epispadias Complex 71

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 72 C1838703
Orphanet 58 ORPHA322
UMLS 71 C1838703

Summaries for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

NIH Rare Diseases : 52 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 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 and cloacal exstrophy. An important gene associated with Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is ISL1 (ISL LIM Homeobox 1), and among its related pathways/superpathways are Neural Stem Cells and Lineage-specific Markers and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include skin, prostate 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 163)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 33.8 TP63 CNTNAP3B CNTNAP3
2 cloacal exstrophy 32.5 PRUNE1 PRPF38A CNTNAP3B CNTNAP3 BMP4
3 vesicoureteral reflux 1 31.0 UPK3A PRUNE1 BMP4
4 cleft lip 30.8 TP63 SHH BMP4
5 chromosome 2q35 duplication syndrome 30.2 TP63 SHH BMP4
6 atrial heart septal defect 29.7 LZTR1 ISL1 BMP4
7 limbal stem cell deficiency 29.6 TP63 KRT13
8 digeorge syndrome 29.0 THAP7 SHH LZTR1 ISL1 CRKL BMP4
9 tetralogy of fallot 28.7 SHH LZTR1 ISL1 CRKL BMP4
10 exstrophy of bladder 27.3 WIZ UPK3A TP63 THAP7 SLC20A1 PRUNE1
11 eec syndrome and related disorders 12.4
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.1
13 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.0
14 adult syndrome 11.7
15 limb-mammary syndrome 11.7
16 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.3
17 hartsfield syndrome 11.2
18 ectodermal dysplasia 10.9
19 split-hand/foot malformation 1 10.9
20 isolated split hand-split foot malformation 10.9
21 cleft lip/palate 10.8
22 inguinal hernia 10.6
23 isolated epispadias 10.6
24 cleft palate, isolated 10.5
25 pelvic organ prolapse 10.5
26 neural tube defects 10.5
27 sexual disorder 10.5
28 hydronephrosis 10.5
29 pyelonephritis 10.5
30 impotence 10.5
31 urolithiasis 10.4
32 acute cystitis 10.4
33 urethral stricture 10.4
34 tp63-related disorders 10.4
35 split hand-foot malformation 10.4
36 urethral diverticulum 10.3 UPK3A CNTNAP3
37 autosomal dominant non-syndromic intellectual disability 2 10.3 CNTNAP3B CNTNAP3
38 cat eye syndrome 10.3
39 hirschsprung disease 1 10.3
40 polykaryocytosis inducer 10.3
41 currarino syndrome 10.3
42 down syndrome 10.3
43 anus, imperforate 10.3
44 charge syndrome 10.3
45 prostatic hyperplasia, benign 10.3
46 sacral defect with anterior meningocele 10.3
47 spermatogenic failure 3 10.3
48 testicular microlithiasis 10.3
49 metabolic acidosis 10.3
50 chronic pyelonephritis 10.3

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 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Enrolling by invitation NCT01878500
3 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
Skin, Prostate, Appendix, Smooth Muscle, Small Intestine, Testes

Publications for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

(show top 50) (show all 303)
# Title Authors PMID Year
1
Salvage perineal-retropubic AUS cuff in paraplegic patient with exstrophy-epispadias complex after previous cuff erosion at bladder neck. 61
32489903 2020
2
Delaying reclosure of bladder exstrophy leads to gradual decline in bladder capacity. 61
32340883 2020
3
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
4
Bladder Herniation as an Auto-Augmentation Technique in Bladder Exstrophy: Initial Experience in Patients with Small Bladder Plate. 61
32105656 2020
5
Variants in ALX4 and Their Association with Genitourinary Defects. 61
32385972 2020
6
Challenges in pediatric urologic practice: a lifelong view. 61
32328778 2020
7
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
8
Long-term sexual outcomes in patients with exstrophy-epispadias complex. 61
32161399 2020
9
Penile Disassembly in Complete Primary Repair of Bladder Exstrophy: Time for Re-evaluation? 61
31887351 2020
10
Modern Management of the Failed Bladder Exstrophy Closure: A 50-yr Experience. 61
30292419 2020
11
Fertility and sexuality issues in congenital lifelong urology patients: male aspects. 61
32067073 2020
12
Utility of Skin Grafting and Tissue Expansion in Penile Reconstruction for the Exstrophy-Epispadias Complex. 61
31730942 2020
13
Urological, Sexual, and Quality of Life Evaluation of Adult Patients With Exstrophy-Epispadias Complex: Long-term Results From a Dutch Cohort. 61
31697953 2020
14
Treatment Strategies and Outcome of the Exstrophy-Epispadias Complex in Germany: Data From the German CURE-Net. 61
32509709 2020
15
Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective. 61
31437120 2020
16
Penile Prosthesis Implantation in an Exstrophy-Epispadias Complex Patient: A Case Report. 61
31542379 2019
17
The failed bladder closure in cloacal exstrophy: Management and outcomes. 61
30879754 2019
18
Complex abdominal wall reconstruction combined with bladder closure in OEIS complex. 61
31079865 2019
19
Anteroposterior Duplicated Exstrophy: A Case Report. 61
31176738 2019
20
The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice. 61
31003729 2019
21
Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database. 61
31176739 2019
22
Use of small intestinal submucosa for corporal body grafting in cases of epispadias and epispadias/exstrophy complex. 61
31221598 2019
23
Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy. 61
31104999 2019
24
Isolated bladder exstrophy in prenatal diagnosis. 61
31115647 2019
25
Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation. 61
31286274 2019
26
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene. 61
31044557 2019
27
Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association. 61
31296310 2019
28
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
29
Re: The Role of Human Acellular Dermis in Preventing Fistulas after Bladder Neck Transection in the Exstrophy-Epispadias Complex. 61
30747880 2019
30
Complete penile disassembly in epispadias repair. 61
30796727 2019
31
Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience. 61
30576745 2019
32
Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. 61
30029844 2019
33
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. 61
30628148 2019
34
Split-appendix Technique for Simultaneous Use in the Mitrofanoff Principle and Posterior Urethral Substitution in a Bladder Exstrophy-Epispadias Complex Patient. 61
30686891 2019
35
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study. 61
30076940 2019
36
Current Indications and Techniques for the Use of Bowel Segments in Pediatric Urinary Tract Reconstruction. 61
31245339 2019
37
Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex. 61
30642850 2019
38
WITHDRAWN: Editorial Comment for manuscript "Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience" Manuscript Number: URL-D-18-01394R1. 61
30578792 2018
39
Towards a Central Role of ISL1 in the Bladder Exstrophy⁻Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling. 61
30563179 2018
40
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. 61
29370895 2018
41
Early detection of deep wound infection in bladder exstrophy and hypospadias using a novel intervention. 61
30332360 2018
42
The inadequate bladder template: Its effect on outcomes in classic bladder exstrophy. 61
29909193 2018
43
Predictors and outcomes of perioperative blood transfusions in classic bladder exstrophy repair: A single institution study. 61
29914824 2018
44
The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. 61
30031742 2018
45
Achieving urinary continence in cloacal exstrophy: The surgical cost. 61
29555156 2018
46
Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex. 61
30031829 2018
47
Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report. 61
29807047 2018
48
A Model for Sustained Collaboration to Address the Unmet Global Burden of Bladder Exstrophy-Epispadias Complex and Penopubic Epispadias: The International Bladder Exstrophy Consortium. 61
29516095 2018
49
Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review. 61
30254955 2018
50
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. 61
29704585 2018

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 GRCh37 Pos GRCh38 Pos
1 WNT3 NM_030753.5(WNT3):c.271T>C (p.Cys91Arg)SNV Likely pathogenic 189347 rs786205887 17:44851085-44851085 17:46773719-46773719
2 WNT10A NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp)SNV Conflicting interpretations of pathogenicity 189351 rs368280129 2:219754816-219754816 2:218890094-218890094
3 WNT7A NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr)SNV Uncertain significance 189350 rs772935313 3:13896112-13896112 3:13854615-13854615
4 WNT11 NM_004626.3(WNT11):c.947G>A (p.Arg316His)SNV Uncertain significance 189352 rs758816226 11:75898227-75898227 11:76187183-76187183
5 ISL1 NM_002202.3(ISL1):c.479-4G>ASNV Uncertain significance 373894 rs2303750 5:50685476-50685476 5:51389642-51389642
6 ISL1 NM_002202.3(ISL1):c.137C>G (p.Ala46Gly)SNV Uncertain significance 374407 rs755382547 5:50680483-50680483 5:51384649-51384649
7 LRP10 NM_014045.5(LRP10):c.754G>A (p.Gly252Ser)SNV Uncertain significance 189356 rs568022752 14:23344911-23344911 14:22875702-22875702
8 FZD5 NM_003468.4(FZD5):c.267G>A (p.Met89Ile)SNV Uncertain significance 189354 rs756316536 2:208633197-208633197 2:207768473-207768473
9 WNT3 NM_030753.5(WNT3):c.638G>A (p.Gly213Asp)SNV Uncertain significance 189357 rs786205889 17:44846116-44846116 17:46768750-46768750
10 WNT6 NM_006522.4(WNT6):c.570G>A (p.Arg190=)SNV Likely benign 189349 rs786205888 2:219736475-219736475 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 11.33 SHH ISL1 BMP4
2 11.05 TP63 SHH ISL1 BMP4
3 10.79 SHH ISL1 BMP4
4 10.06 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 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.93 SHH ISL1 CRKL BMP4
2 heart development GO:0007507 9.87 SHH ISL1 CRKL BMP4
3 kidney development GO:0001822 9.8 UPK3A SHH BMP4
4 odontogenesis of dentin-containing tooth GO:0042475 9.69 TP63 SHH BMP4
5 pattern specification process GO:0007389 9.67 TP63 SHH CRKL
6 branching morphogenesis of an epithelial tube GO:0048754 9.65 SHH BMP4
7 embryonic limb morphogenesis GO:0030326 9.65 TP63 SHH BMP4
8 spinal cord motor neuron differentiation GO:0021522 9.64 SHH ISL1
9 lung morphogenesis GO:0060425 9.64 SHH BMP4
10 embryonic morphogenesis GO:0048598 9.63 SHH BMP4
11 outflow tract morphogenesis GO:0003151 9.63 ISL1 CRKL BMP4
12 epithelial tube branching involved in lung morphogenesis GO:0060441 9.62 SHH BMP4
13 smooth muscle tissue development GO:0048745 9.61 SHH BMP4
14 negative regulation of intracellular estrogen receptor signaling pathway GO:0033147 9.61 TP63 ISL1
15 prostate gland development GO:0030850 9.6 TP63 SHH
16 dorsal/ventral neural tube patterning GO:0021904 9.59 SHH BMP4
17 cardiac right ventricle morphogenesis GO:0003215 9.58 ISL1 BMP4
18 secondary heart field specification GO:0003139 9.58 ISL1 BMP4
19 positive regulation of cell differentiation GO:0045597 9.58 SHH ISL1 BMP4
20 metanephric collecting duct development GO:0072205 9.56 SHH BMP4
21 cranial skeletal system development GO:1904888 9.55 TP63 CRKL
22 telencephalon regionalization GO:0021978 9.54 SHH BMP4
23 lymphoid progenitor cell differentiation GO:0002320 9.52 SHH BMP4
24 branching involved in prostate gland morphogenesis GO:0060442 9.43 SHH BMP4
25 epithelial-mesenchymal cell signaling GO:0060684 9.37 SHH BMP4
26 neuron fate commitment GO:0048663 9.33 SHH ISL1 BMP4
27 trachea development GO:0060438 9.32 SHH BMP4
28 cloacal septation GO:0060197 9.26 TP63 BMP4
29 embryonic hindlimb morphogenesis GO:0035116 9.13 TP63 SHH BMP4
30 anatomical structure formation involved in morphogenesis GO:0048646 8.8 TP63 SHH BMP4

Sources for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

3 CDC
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17 EFO
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61 PubMed
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68 SNOMED-CT via HPO
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