MCID: CLC011
MIFTS: 33

Cloacal Exstrophy

Categories: Nephrological diseases

Aliases & Classifications for Cloacal Exstrophy

MalaCards integrated aliases for Cloacal Exstrophy:

Name: Cloacal Exstrophy 12 77 38 15

Classifications:



Summaries for Cloacal Exstrophy

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

MalaCards based summary : Cloacal Exstrophy is related to bladder exstrophy-epispadias-cloacal exstrophy complex and fronto nasal malformation cloacal exstrophy. An important gene associated with Cloacal Exstrophy is MT-RNR1 (Mitochondrially Encoded 12S RRNA). Affiliated tissues include kidney, skin and spinal cord, and related phenotypes are vesicoureteral reflux and hypoplasia of penis

Wikipedia : 77 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 101)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 12.8
2 fronto nasal malformation cloacal exstrophy 12.4
3 oeis complex 12.3
4 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.2
5 exstrophy of bladder 12.0
6 abdominal wall defect 10.4
7 sacrococcygeal teratoma 10.4 AFP MNX1
8 fungal esophagitis 10.3 ATP12A ATP4A
9 diclofenac allergy 10.3 ATP12A ATP4A
10 gastroduodenal crohn's disease 10.3 ATP12A ATP4A
11 neonatal candidiasis 10.3 ATP12A ATP4A
12 photoallergic dermatitis 10.3 ATP12A ATP4A
13 squamous papillomatosis 10.3 ATP12A ATP4A
14 toxic megacolon 10.3 ATP12A ATP4A
15 aspiration pneumonitis 10.3 ATP12A ATP4A
16 gastrointestinal neuroendocrine benign tumor 10.3 ATP12A ATP4A
17 gastric antral vascular ectasia 10.3 ATP12A ATP4A
18 granulomatous gastritis 10.3 ATP12A ATP4A
19 esophageal candidiasis 10.3 ATP12A ATP4A
20 gastric neuroendocrine neoplasm 10.3 ATP12A ATP4A
21 male reproductive organ benign neoplasm 10.3 AFP NR5A1
22 acute laryngitis 10.3 ATP12A ATP4A
23 laryngitis 10.3 ATP12A ATP4A
24 duodenitis 10.3 ATP12A ATP4A
25 rumination disorder 10.3 ATP12A ATP4A
26 active peptic ulcer disease 10.3 ATP12A ATP4A
27 congenital disorder of deglycosylation 10.3 ATP12A ATP4A
28 bladder calculus 10.3 ATP12A ATP4A
29 ischemic neuropathy 10.3 ATP12A ATP4A
30 bile reflux 10.3 ATP12A ATP4A
31 capillary disease 10.3 ATP12A ATP4A
32 peptic esophagitis 10.3 ATP12A ATP4A
33 gastroschisis 10.3
34 omphalocele 10.3
35 compartment syndrome 10.3
36 myelocystocele 10.3
37 dyskinesia of esophagus 10.3 ATP12A ATP4A
38 hernia, hiatus 10.3 ATP12A ATP4A
39 postsurgical hypothyroidism 10.3 ATP12A ATP4A
40 lymphocytic colitis 10.3 ATP12A ATP4A
41 clostridium difficile colitis 10.3 ATP12A ATP4A
42 diarrhea 1, secretory chloride, congenital 10.3 ATP12A ATP4A
43 esophagitis, eosinophilic, 1 10.2 ATP12A ATP4A
44 microscopic colitis 10.2 ATP12A ATP4A
45 chronic laryngitis 10.2 ATP12A ATP4A
46 eosinophilic gastritis 10.2 ATP12A ATP4A
47 esophagus adenocarcinoma 10.2 ATP12A ATP4A
48 spastic entropion 10.2 KANTR MMP7
49 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 ATP12A ATP4A
50 jejunoileitis 10.2 ATP12A ATP4A

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:

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

Drugs & Therapeutics for Cloacal Exstrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084

Search NIH Clinical Center for Cloacal Exstrophy

Genetic Tests for Cloacal Exstrophy

Anatomical Context for Cloacal Exstrophy

MalaCards organs/tissues related to Cloacal Exstrophy:

42
Kidney, Skin, Spinal Cord, Bone, Uterus, Small Intestine, Heart

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 203)
# Title Authors Year
1
Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. ( 30029844 )
2019
2
The failed bladder closure in cloacal exstrophy: Management and outcomes. ( 30879754 )
2019
3
The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice. ( 31003729 )
2019
4
Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients. ( 31011869 )
2019
5
Re: The Intravesical Phallus in Patients with Cloacal Exstrophy: An Embryologic Conundrum. ( 31063052 )
2019
6
Covered cloacal exstrophy with pulmonary hypoplasia due to urethral obstruction. ( 31099100 )
2019
7
Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy. ( 28893435 )
2018
8
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. ( 29370895 )
2018
9
Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report. ( 29505857 )
2018
10
Achieving urinary continence in cloacal exstrophy: The surgical cost. ( 29555156 )
2018
11
Re: Abdominal Compartment Syndrome in a Pediatric Patient with Cloacal Exstrophy. ( 29783571 )
2018
12
The intravesical phallus in patients with cloacal exstrophy: An embryologic conundrum. ( 29941348 )
2018
13
Commentary to 'The intravesical phallus in patients with cloacal exstrophy: an embryologic conundrum'. ( 30150132 )
2018
14
Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy. ( 27889222 )
2017
15
Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in? ( 27989536 )
2017
16
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. ( 28058485 )
2017
17
High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. ( 28202184 )
2017
18
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. ( 28810634 )
2017
19
Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy. ( 28924534 )
2017
20
Continence in the cloacal exstrophy patient: What does it cost? ( 26775195 )
2016
21
Complexities of Müllerian Anatomy in 46XX Cloacal Exstrophy Patients. ( 26851190 )
2016
22
Abdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy. ( 26921644 )
2016
23
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. ( 27114306 )
2016
24
Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate. ( 27123401 )
2016
25
Re: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy. ( 27186780 )
2016
26
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature. ( 27313937 )
2016
27
Congenital renal anomalies in cloacal exstrophy: Is there a difference? ( 27363330 )
2016
28
Bacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy. ( 27882741 )
2016
29
Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy. ( 25878926 )
2015
30
Clinical outcome of cloacal exstrophy, current status, and a change in surgical management. ( 25422902 )
2015
31
46XX cloacal exstrophy patients. ( 25840085 )
2015
32
Re: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management. ( 26149728 )
2015
33
Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs. ( 26184880 )
2015
34
Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. ( 26257027 )
2015
35
Cloacal Exstrophy: A History of Gender Reassignment. ( 26375849 )
2015
36
Re: The "Rescue Operation" for Patients with Cloacal Exstrophy and its Variants. ( 26582705 )
2015
37
A newborn with trisomy 13 presenting with cloacal exstrophy. ( 26690607 )
2015
38
Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature. ( 23760474 )
2014
39
Cloacal exstrophy: a single center experience. ( 24230484 )
2014
40
Prenatal diagnosis of cloacal exstrophy: a case report and review of the literature. ( 24393699 )
2014
41
Re.: 'cloacal exstrophy: a single center experience'. ( 24477420 )
2014
42
Response to "re: cloacal exstrophy: a single centre experience". ( 24485568 )
2014
43
The "rescue operation" for patients with cloacal exstrophy and its variants. ( 24817509 )
2014
44
Initial bladder closure of the cloacal exstrophy complex: outcome related risk factors and keys to success. ( 24888858 )
2014
45
Inversion of ileum causing intestinal obstruction: rare complication in cloacal exstrophy. ( 25024986 )
2014
46
Prenatal diagnosis of covered cloacal exstrophy. ( 25096248 )
2014
47
Safety and efficacy of staged pelvic osteotomies in the modern treatment of cloacal exstrophy. ( 25155410 )
2014
48
Vaginal reconstruction in female cloacal exstrophy patients. ( 25168550 )
2014
49
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
50
MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. ( 23268122 )
2013

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 ATP hydrolysis coupled proton transport GO:0015991 9.4 ATP12A ATP4A
2 cellular sodium ion homeostasis GO:0006883 9.37 ATP12A ATP4A
3 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP12A ATP4A
4 cellular potassium ion homeostasis GO:0030007 9.26 ATP12A ATP4A
5 sodium ion export across plasma membrane GO:0036376 9.16 ATP12A ATP4A
6 progesterone metabolic process GO:0042448 8.96 AFP AKR1C1
7 epithelial cell differentiation GO:0030855 8.62 AKR1C1 TBX1

Molecular functions related to Cloacal Exstrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 MNX1 NR5A1 TBX1 TLX1 VSX2
2 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP12A ATP4A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

Sources for Cloacal Exstrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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