Aliases & Classifications for Cloacal Exstrophy

MalaCards integrated aliases for Cloacal Exstrophy:

Name: Cloacal Exstrophy 12 73 20 36 29 15
Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex 20
Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects 20
Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome 20
Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect 20
Omphalocele Exstrophy Imperforate Anus 70
Cloacal Exstrophy Sequence 20
Oeis Complex 20

Classifications:



Summaries for Cloacal Exstrophy

GARD : 20 OEIS complex, also known as cloacal exstrophy, is the most severe birth defect within the exstrophy-epispadias complex. It is characterized by O mphalocele, E xstrophy, I mperforate anus and S pinal defects. A child with this condition will have the bladder and a portion of the intestines exposed outside the abdomen with the bony pelvis open like a book. In males, the penis is either flat and short or sometimes split. In females, the clitoris is split and there may be two vaginal openings. Also, frequently the intestine is short and the anus is not open (anus imperforate). There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities. The defect occurs when the baby is developing inside the uterus during the first trimester of pregnancy, and seems to be due to the rupture of a tissue known as the cloacal membrane which results in the abnormal development of the abdominal wall and other malformations. The timing of the rupture determines the severity of the disorder. The cause for this malformation is unknown. Treatment involves surgical repair of each malformation.

MalaCards based summary : Cloacal Exstrophy, also known as omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and bladder exstrophy. An important gene associated with Cloacal Exstrophy is MT-RNR1 (Mitochondrially Encoded 12S RRNA). Affiliated tissues include uterus, kidney and colon, and related phenotypes are vesicoureteral reflux and hypoplasia of penis

Disease Ontology : 12 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel.

KEGG : 36 Cloacal exstrophy is an extremely rare congenital complex deformity that is associated with anterior abdominal wall defects, reflex and exposure of the cloaca (uninterrupted ureter and bowel), aproctia, a widely separated pubic bone, and defects or dysplasia of external genital organs. Cloacal exstrophy is thought to be related to abnormal development of the cloacal membrane, a transitory structure composed of endoderm and ectoderm that overlies the embryonic cloaca. The result is primarily an abdominal wall defect with failed closure of the lower urinary tract. Cloacal exstrophy has also been referred to as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defect), and other malformations of the urogenital, gastrointestinal, skeletal and neurospinal axis frequently coexist.

Wikipedia : 73 Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and... more...

Related Diseases for Cloacal Exstrophy

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

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 31.8 SLC20A1 PRPF38A CNTNAP3B CNTNAP3 BMP4
2 bladder exstrophy 31.8 SLC20A1 MNX1 CNTNAP3B
3 oeis complex 11.7
4 bladder exstrophy and epispadias complex 11.5
5 fronto nasal malformation cloacal exstrophy 11.3
6 omphalocele 10.8
7 abdominal wall defect 10.6
8 anus, imperforate 10.6
9 myelomeningocele 10.5
10 neural tube defects 10.4
11 short bowel syndrome 10.4
12 tethered spinal cord syndrome 10.4
13 myelocystocele 10.4
14 gastroschisis 10.3
15 chiari malformation 10.3
16 lipomatosis, multiple 10.2
17 metabolic acidosis 10.2
18 scoliosis 10.2
19 pleomorphic lipoma 10.2
20 hydrocephalus 10.2
21 hydronephrosis 10.2
22 teratoma 10.2
23 renal hypodysplasia/aplasia 1 10.2
24 vesicoureteral reflux 1 10.2
25 duodenal atresia 10.2
26 meningocele 10.2
27 patau syndrome 10.2
28 clubfoot 10.2
29 oligohydramnios 10.2
30 squamous cell carcinoma 10.2
31 liver disease 10.2
32 compartment syndrome 10.2
33 intestinal obstruction 10.2
34 46, xy disorders of sexual development 10.2
35 chromosomal triplication 10.2
36 limb-body wall complex 10.2
37 anorectal anomalies 10.0
38 catatrichy 10.0
39 craniosynostosis 1 10.0
40 meckel diverticulum 10.0
41 split-hand/foot malformation 1 10.0
42 telecanthus 10.0
43 uterine anomalies 10.0
44 arachnoid cysts, intracranial 10.0
45 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
46 constricting bands, congenital 10.0
47 cryptorchidism, unilateral or bilateral 10.0
48 diastematomyelia 10.0
49 femur, unilateral bifid, with monodactylous ectrodactyly 10.0
50 microcolon 10.0

Graphical network of the top 20 diseases related to Cloacal Exstrophy:



Diseases related to Cloacal Exstrophy

Symptoms & Phenotypes for Cloacal Exstrophy

Human phenotypes related to Cloacal Exstrophy:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 hallmark (90%) HP:0000076
2 hypoplasia of penis 31 hallmark (90%) HP:0008736
3 omphalocele 31 hallmark (90%) HP:0001539
4 bladder exstrophy 31 hallmark (90%) HP:0002836
5 abnormality of the clitoris 31 hallmark (90%) HP:0000056
6 cloacal exstrophy 31 hallmark (90%) HP:0010475
7 talipes equinovarus 31 frequent (33%) HP:0001762
8 anal atresia 31 frequent (33%) HP:0002023
9 hemivertebrae 31 frequent (33%) HP:0002937
10 abnormality of tibia morphology 31 frequent (33%) HP:0002992
11 hip dislocation 31 frequent (33%) HP:0002827
12 intestinal malrotation 31 frequent (33%) HP:0002566
13 myelomeningocele 31 frequent (33%) HP:0002475
14 abnormality of fibula morphology 31 frequent (33%) HP:0002991
15 intestinal duplication 31 frequent (33%) HP:0100668
16 absent foot 31 frequent (33%) HP:0011301
17 horseshoe kidney 31 occasional (7.5%) HP:0000085
18 ectopic kidney 31 occasional (7.5%) HP:0000086
19 renal hypoplasia/aplasia 31 occasional (7.5%) HP:0008678
20 ureteropelvic junction obstruction 31 occasional (7.5%) HP:0000074
21 hydroureter 31 occasional (7.5%) HP:0000072
22 ureterocele 31 occasional (7.5%) HP:0000070
23 abnormal fallopian tube morphology 31 occasional (7.5%) HP:0011027

Drugs & Therapeutics for Cloacal Exstrophy

Search Clinical Trials , NIH Clinical Center for Cloacal Exstrophy

Genetic Tests for Cloacal Exstrophy

Genetic tests related to Cloacal Exstrophy:

# Genetic test Affiliating Genes
1 Cloacal Exstrophy (disease) 29

Anatomical Context for Cloacal Exstrophy

MalaCards organs/tissues related to Cloacal Exstrophy:

40
Uterus, Kidney, Colon, Spinal Cord, Skin, Placenta, Appendix

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 444)
# Title Authors PMID Year
1
A review of adopted colorectal patients: a parent's perspective. 61
33475771 2021
2
Turbulent Cerebrospinal Fluid Flow in Enlarging Terminal Myelocystocele. 61
33348100 2021
3
Pedicled Anterolateral Thigh and Radial Forearm Free Flap Phalloplasty for Penile Reconstruction in Patients With Bladder Exstrophy. 61
33026935 2021
4
Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes. 61
33223423 2021
5
Baseline Renal Volumes in Children Born With Cloacal Anomalies. 61
32827534 2021
6
Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management. 61
33347773 2020
7
[High risk pregnancy in patients with extrophy-epispadia complex: Uro-gynecological characteristics and management.] 61
33144535 2020
8
Multidisciplinary management of adult cloacal exstrophy complications: A challenging case of nephrolithiasis and abdominal wall extrusion of a catheterizable ileal pouch. 61
32528853 2020
9
Key anatomic findings on fetal ultrasound and MRI in the prenatal diagnosis of bladder and cloacal exstrophy. 61
32773250 2020
10
Outcomes in the giant omphalocele population: A single center comprehensive experience. 61
32475506 2020
11
Clues and pitfalls in prenatal diagnosis of classic cloacal exstrophy using ultrasonography and magnetic resonance imaging: A case with sequential observation from 17 to 30 weeks' gestation and literature review. 61
32537902 2020
12
Spine duplication or split notochord syndrome - case report and literature review. 61
30475155 2020
13
SLC20A1 Is Involved in Urinary Tract and Urorectal Development. 61
32850778 2020
14
Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective. 61
31437120 2020
15
Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients. 61
31011869 2019
16
The failed bladder closure in cloacal exstrophy: Management and outcomes. 61
30879754 2019
17
Complex abdominal wall reconstruction combined with bladder closure in OEIS complex. 61
31079865 2019
18
The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice. 61
31003729 2019
19
Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database. 61
31176739 2019
20
Re: Genital Mobilization of Intravesical Phallus Associated with Covered Cloacal Exstrophy: A Case Report. 61
31180282 2019
21
Re: The Intravesical Phallus in Patients with Cloacal Exstrophy: An Embryologic Conundrum. 61
31063052 2019
22
3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial. 61
30840542 2019
23
Isolated bladder exstrophy in prenatal diagnosis. 61
31115647 2019
24
OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program. 61
31042330 2019
25
Lifelong Congenital Urology: The Challenges for Patients and Surgeons. 61
30935758 2019
26
Ectopias of the kidney, urinary tract organs, and male genitalia. 61
30446779 2019
27
Covered cloacal exstrophy with pulmonary hypoplasia due to urethral obstruction. 61
31099100 2019
28
Functional, histological and molecular characteristics of human exstrophy detrusor. 61
30745011 2019
29
Bilateral Anterior Innominate Osteotomy for Bladder Exstrophy. 61
31086719 2019
30
Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. 61
30029844 2019
31
A descriptive model for a multidisciplinary unit for colorectal and pelvic malformations. 61
29778545 2019
32
Transition of care: a growing concern in adult patients born with colorectal anomalies. 61
30392127 2019
33
Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review. 61
30367985 2019
34
Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex. 61
30642850 2019
35
The rare case of an extraperitoneal ureteral herniation into the inguinal canal of a 12-year-old boy. 61
30286654 2019
36
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. 61
29370895 2018
37
A bizarre case of accessory larynx in an infant with OEIS syndrome. 61
30262351 2018
38
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 61
30377551 2018
39
Achieving urinary continence in cloacal exstrophy: The surgical cost. 61
29555156 2018
40
Paediatric cystolitholapaxy through the Mitrofanoff/Monti channel. 61
29778700 2018
41
Commentary to 'The intravesical phallus in patients with cloacal exstrophy: an embryologic conundrum'. 61
30150132 2018
42
The intravesical phallus in patients with cloacal exstrophy: An embryologic conundrum. 61
29941348 2018
43
[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.] 61
30135974 2018
44
Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report. 61
29807047 2018
45
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. 61
29704585 2018
46
Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes. 61
28958802 2018
47
Who, where, and why are patients lost to follow-up? A 20-year study of bladder exstrophy patients at a single institution. 61
29606357 2018
48
Re: Abdominal Compartment Syndrome in a Pediatric Patient with Cloacal Exstrophy. 61
29783571 2018
49
Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report. 61
29505857 2018
50
Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy. 61
28893435 2018

Variations for Cloacal Exstrophy

Expression for Cloacal Exstrophy

Search GEO for disease gene expression data for Cloacal Exstrophy.

Pathways for Cloacal Exstrophy

GO Terms for Cloacal Exstrophy

Biological processes related to Cloacal Exstrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tissue development GO:0009888 8.62 NR5A1 BMP4

Sources for Cloacal Exstrophy

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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