EEC
MCID: BLD129
MIFTS: 35

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 53 59
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex 53 59
Beec 53 59
Eec 53 59
Bladder Exstrophy and Epispadias Complex 73

Characteristics:

Orphanet epidemiological data:

59
exstrophy-epispadias complex
Inheritance: Multigenic/multifactorial; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0080173
Orphanet 59 ORPHA322
ICD10 via Orphanet 34 Q64.1
UMLS via Orphanet 74 C1838703
UMLS 73 C1838703

Summaries for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

NIH Rare Diseases : 53 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 (Widely Interspaced Zinc Finger Motifs), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include prostate, testes and smooth muscle.

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 52)
# Related Disease Score Top Affiliating Genes
1 exstrophy of bladder 30.3 CELSR3 CNTNAP3 ISL1 KRT13 LRIG2 MMP23B
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.3
3 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.9
4 cloacal exstrophy 11.8
5 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.7
6 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.5
7 adult syndrome 11.3
8 limb-mammary syndrome 11.3
9 epispadias 11.3
10 hartsfield syndrome 11.0
11 ectodermal dysplasia 10.7
12 cleft lip 10.4
13 cleft lip/palate 10.4
14 vesicoureteral reflux 1 10.4
15 isolated split hand-split foot malformation 10.3
16 pelvic organ prolapse 10.3
17 prostate cancer 10.3
18 down syndrome 10.3
19 hypospadias 10.3
20 triple x syndrome 10.3
21 split-hand/foot malformation 1 10.2
22 cleft palate, isolated 10.2
23 choanal atresia, posterior 10.0
24 ankyloglossia 9.8
25 esterase c 9.8
26 lacrimoauriculodentodigital syndrome 9.8
27 ulnar-mammary syndrome 9.8
28 tetralogy of fallot 9.8
29 trigeminal neuralgia 9.8
30 white sponge nevus 1 9.8
31 polycythemia vera 9.8
32 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 9.8
33 focal dermal hypoplasia 9.8
34 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
35 b-cell lymphomas 9.8
36 breast reconstruction 9.8
37 lymphoma 9.8
38 microphthalmia 9.8
39 cholesteatoma of middle ear 9.8
40 oligohydramnios 9.8
41 anodontia 9.8
42 farmer's lung 9.8
43 hypogonadism 9.8
44 agammaglobulinemia 9.8
45 endometrial adenocarcinoma 9.8
46 adenocarcinoma 9.8
47 polycythemia 9.8
48 diabetes insipidus 9.8
49 fetal edema 9.8
50 hydrops fetalis 9.8

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

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

Genetic Tests for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Anatomical Context for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

41
Prostate, Testes, Smooth Muscle, Appendix, Lung, Breast, B Cells

Publications for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

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

(show top 50) (show all 116)
# Title Authors Year
1
Male Sexuality, Fertility, and Urinary Continence in Bladder Exstrophy-Epispadias Complex. ( 29502980 )
2018
2
Autophagy, Apoptosis, and Cell Proliferation in Exstrophy-Epispadias Complex. ( 28986224 )
2018
3
Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog. ( 29504860 )
2018
4
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
5
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. ( 29704585 )
2018
6
The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. ( 30031742 )
2018
7
Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex. ( 30031829 )
2018
8
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study. ( 30076940 )
2018
9
Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review. ( 30254955 )
2018
10
The Surgical Management of Bladder Polyps in the Setting of Exstrophy Epispadias Complex. ( 28652161 )
2017
11
Patient-Reported Impact of Pelvic Organ Prolapse on Continence and Sexual Function in Women With Exstrophy-Epispadias Complex. ( 28277470 )
2017
12
Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network. ( 29126846 )
2017
13
Re: Pediatric Surgical Complications of Major Genitourinary Reconstruction in the Exstrophy-Epispadias Complex. ( 27597107 )
2016
14
Re: Successful Pregnancy in Patients with Exstrophy-Epispadias Complex: A University of Washington Experience. ( 27191110 )
2016
15
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. ( 27138190 )
2016
16
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. ( 26862292 )
2016
17
Low Dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys with Bladder Exstrophy Epispadias Complex. ( 28039050 )
2016
18
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. ( 27013921 )
2016
19
The long-term outcomes after staged repair of exstrophy-epispadias complex. ( 27695206 )
2016
20
Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. ( 27480467 )
2016
21
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. ( 27290615 )
2016
22
Role of routine cystoscopy and cystography in exstrophy-epispadias complex. ( 26653074 )
2016
23
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 )
2016
24
Pediatric surgical complications of major genitourinary reconstruction in the exstrophy-epispadias complex. ( 25598117 )
2015
25
Exstrophy-Epispadias Complex in a Newborn: Case Report and Review of the Literature. ( 26495181 )
2015
26
Successful pregnancy in patients with exstrophy-epispadias complex: A University of Washington experience. ( 26092092 )
2015
27
Bladder exstrophy-epispadias complex with adenocarcinoma in an adult patient: A case report. ( 26668615 )
2015
28
Re: Emotional and Behavioral Functioning in Children with Bladder Exstrophy-Epispadias Complex: A Developmental Perspective. ( 26292892 )
2015
29
Multidisciplinary approach to an unusual adult presentation of exstrophy-epispadias complex. ( 25569056 )
2015
30
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
31
Urologic complications of major genitourinary reconstruction in the exstrophy-epispadias complex. ( 25082713 )
2014
32
Bladder exstrophy-epispadias complex and triple-X syndrome: Incidental finding or causality? ( 25200913 )
2014
33
Exstrophy-epispadias complex presenting in adulthood: a single-center review of presentation, management, and outcomes. ( 25443942 )
2014
34
Modern management of the exstrophy-epispadias complex. ( 25374956 )
2014
35
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding. ( 23525294 )
2013
36
No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. ( 24314177 )
2013
37
New insights into the pathogenesis of bladder exstrophy-epispadias complex. ( 23743131 )
2013
38
Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study. ( 23201374 )
2013
39
Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: A developmental perspective. ( 23962430 )
2013
40
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. ( 23913486 )
2013
41
Exstrophy epispadias complex- Issues beyond the initial repair. ( 23450435 )
2012
42
Testicular tumors in patients with exstrophy-epispadias complex. ( 22906645 )
2012
43
Spontaneous exstrophy-epispadias complex in a goat-kid. ( 22881711 )
2012
44
Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex. ( 23284286 )
2012
45
Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival. ( 21944104 )
2011
46
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
47
A brief primer for pediatric urologists and surgeons on developmental psychopathology in the exstrophy-epispadias complex. ( 21453860 )
2011
48
Safety, efficacy and health related quality of life of autologous myoblast transplantation for treatment of urinary incontinence in children with bladder exstrophy-epispadias complex. ( 21944110 )
2011
49
Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. ( 21431277 )
2011
50
Re: pelvic-floor imaging using three-dimensional ultrasonography and magnetic resonance imaging in the long term follow-up of the bladder-exstrophy-epispadias complex. ( 22098989 )
2011

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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 LRIG2 MMP23B WNT3

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

# Name GO ID Score Top Affiliating Genes
1 innervation GO:0060384 8.62 ISL1 LRIG2

Sources for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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