MCID: CLC011
MIFTS: 37

Cloacal Exstrophy

Categories: Bone diseases, Gastrointestinal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cloacal Exstrophy

MalaCards integrated aliases for Cloacal Exstrophy:

Name: Cloacal Exstrophy 12 74 52 36 29 15
Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex 52
Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects 52
Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome 52
Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect 52
Cloacal Exstrophy Sequence 52
Oeis Complex 52

Classifications:



Summaries for Cloacal Exstrophy

NIH Rare Diseases : 52 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 exstrophy of bladder. An important gene associated with Cloacal Exstrophy is MT-RNR1 (Mitochondrially Encoded 12S RRNA). Affiliated tissues include kidney, bone and uterus, 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 : 74 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 96)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 33.1 PRUNE1 PRPF38A CNTNAP3B CNTNAP3 BMP4
2 exstrophy of bladder 31.9 PRUNE1 PRPF38A LINC00343 CNTNAP3B CNTNAP3
3 fronto nasal malformation cloacal exstrophy 12.5
4 oeis complex 12.4
5 omphalocele 10.9
6 abdominal wall defect 10.7
7 anus, imperforate 10.7
8 myelomeningocele 10.6
9 neural tube defects 10.5
10 short bowel syndrome 10.5
11 myelocystocele 10.5
12 gastroschisis 10.4
13 chiari malformation 10.4
14 lipomatosis, multiple 10.4
15 metabolic acidosis 10.4
16 scoliosis 10.4
17 pleomorphic lipoma 10.4
18 hydrocephalus 10.4
19 hydronephrosis 10.4
20 teratoma 10.4
21 renal hypodysplasia/aplasia 1 10.3
22 vesicoureteral reflux 1 10.3
23 duodenal atresia 10.3
24 meningocele 10.3
25 patau syndrome 10.3
26 clubfoot 10.3
27 oligohydramnios 10.3
28 squamous cell carcinoma 10.3
29 compartment syndrome 10.3
30 intestinal obstruction 10.3
31 46, xy disorders of sexual development 10.3
32 chromosomal triplication 10.3
33 limb-body wall complex 10.3
34 anorectal anomalies 10.1
35 catatrichy 10.1
36 craniosynostosis 1 10.1
37 meckel diverticulum 10.1
38 split-hand/foot malformation 1 10.1
39 telecanthus 10.1
40 uterine anomalies 10.1
41 arachnoid cysts, intracranial 10.1
42 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
43 constricting bands, congenital 10.1
44 cryptorchidism, unilateral or bilateral 10.1
45 diastematomyelia 10.1
46 femur, unilateral bifid, with monodactylous ectrodactyly 10.1
47 microcolon 10.1
48 asplenia, isolated congenital 10.1
49 thoracoabdominal syndrome 10.1
50 deafness, aminoglycoside-induced 10.1

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
Kidney, Bone, Uterus, Colon, Spinal Cord, Small Intestine, Skin

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 435)
# Title Authors PMID Year
1
Multidisciplinary management of adult cloacal exstrophy complications: A challenging case of nephrolithiasis and abdominal wall extrusion of a catheterizable ileal pouch. 61
32528853 2020
2
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
3
Outcomes in the giant omphalocele population: A single center comprehensive experience. 61
32475506 2020
4
Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective. 61
31437120 2020
5
Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients. 61
31011869 2019
6
Complex abdominal wall reconstruction combined with bladder closure in OEIS complex. 61
31079865 2019
7
The failed bladder closure in cloacal exstrophy: Management and outcomes. 61
30879754 2019
8
The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice. 61
31003729 2019
9
Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database. 61
31176739 2019
10
Re: Genital Mobilization of Intravesical Phallus Associated with Covered Cloacal Exstrophy: A Case Report. 61
31180282 2019
11
Re: The Intravesical Phallus in Patients with Cloacal Exstrophy: An Embryologic Conundrum. 61
31063052 2019
12
3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial. 61
30840542 2019
13
Isolated bladder exstrophy in prenatal diagnosis. 61
31115647 2019
14
OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program. 61
31042330 2019
15
Lifelong Congenital Urology: The Challenges for Patients and Surgeons. 61
30935758 2019
16
Ectopias of the kidney, urinary tract organs, and male genitalia. 61
30446779 2019
17
Covered cloacal exstrophy with pulmonary hypoplasia due to urethral obstruction. 61
31099100 2019
18
Functional, histological and molecular characteristics of human exstrophy detrusor. 61
30745011 2019
19
Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. 61
30029844 2019
20
Bilateral Anterior Innominate Osteotomy for Bladder Exstrophy. 61
31086719 2019
21
A descriptive model for a multidisciplinary unit for colorectal and pelvic malformations. 61
29778545 2019
22
Transition of care: a growing concern in adult patients born with colorectal anomalies. 61
30392127 2019
23
Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review. 61
30367985 2019
24
Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex. 61
30642850 2019
25
The rare case of an extraperitoneal ureteral herniation into the inguinal canal of a 12-year-old boy. 61
30286654 2019
26
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. 61
29370895 2018
27
A bizarre case of accessory larynx in an infant with OEIS syndrome. 61
30262351 2018
28
Spine duplication or split notochord syndrome - case report and literature review. 61
30475155 2018
29
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 61
30377551 2018
30
Achieving urinary continence in cloacal exstrophy: The surgical cost. 61
29555156 2018
31
Paediatric cystolitholapaxy through the Mitrofanoff/Monti channel. 61
29778700 2018
32
The intravesical phallus in patients with cloacal exstrophy: An embryologic conundrum. 61
29941348 2018
33
Commentary to 'The intravesical phallus in patients with cloacal exstrophy: an embryologic conundrum'. 61
30150132 2018
34
[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.] 61
30135974 2018
35
Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report. 61
29807047 2018
36
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. 61
29704585 2018
37
Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes. 61
28958802 2018
38
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
39
Re: Abdominal Compartment Syndrome in a Pediatric Patient with Cloacal Exstrophy. 61
29783571 2018
40
Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report. 61
29505857 2018
41
Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy. 61
28893435 2018
42
Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in? 61
27989536 2017
43
Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study. 61
28960693 2017
44
[Prenatal diagnosis of abdominal wall defects]. 61
28890277 2017
45
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. 61
28810634 2017
46
High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. 61
28202184 2017
47
The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature. 61
28058485 2017
48
Psychosexual development management of bladder exstrophy epispadias in complex patients. 61
28254239 2017
49
Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy. 61
27889222 2017
50
Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy. 61
28924534 2017

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 positive regulation of osteoblast differentiation GO:0045669 9.26 BMP4 ATRAID
2 steroid hormone mediated signaling pathway GO:0043401 9.16 NR5A1 BMP4
3 tissue development GO:0009888 8.96 NR5A1 BMP4
4 positive regulation of bone mineralization GO:0030501 8.62 BMP4 ATRAID

Sources for Cloacal Exstrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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