MCID: CLC011
MIFTS: 39

Cloacal Exstrophy

Categories: Nephrological diseases

Aliases & Classifications for Cloacal Exstrophy

MalaCards integrated aliases for Cloacal Exstrophy:

Name: Cloacal Exstrophy 12 76 37 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 RNA). Affiliated tissues include kidney, bone and skin, and related phenotypes are ectopic kidney and horseshoe kidney

Wikipedia : 76 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 92)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 12.7
2 fronto nasal malformation cloacal exstrophy 12.3
3 oeis complex 12.2
4 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.1
5 exstrophy of bladder 11.9
6 epispadias 10.4
7 gastroschisis 10.3
8 omphalocele 10.3
9 compartment syndrome 10.3
10 abdominal wall defect 10.3
11 myelocystocele 10.3
12 meningocele 10.2 MNX1 SATB2
13 sacrococcygeal teratoma 10.2 AFP MNX1
14 anus, imperforate 10.2 MNX1 SATB2
15 fungal esophagitis 10.2 ATP12A ATP4A
16 diclofenac allergy 10.2 ATP12A ATP4A
17 gastroduodenal crohn's disease 10.2 ATP12A ATP4A
18 neonatal candidiasis 10.2 ATP12A ATP4A
19 photoallergic dermatitis 10.2 ATP12A ATP4A
20 squamous papillomatosis 10.2 ATP12A ATP4A
21 sc phocomelia syndrome 10.2 AFP SATB2
22 toxic megacolon 10.2 ATP12A ATP4A
23 aspiration pneumonitis 10.2 ATP12A ATP4A
24 gastrointestinal neuroendocrine benign tumor 10.2 ATP12A ATP4A
25 gastric antral vascular ectasia 10.2 ATP12A ATP4A
26 granulomatous gastritis 10.2 ATP12A ATP4A
27 esophageal candidiasis 10.2 ATP12A ATP4A
28 gastric neuroendocrine neoplasm 10.2 ATP12A ATP4A
29 acute laryngitis 10.2 ATP12A ATP4A
30 laryngitis 10.2 ATP12A ATP4A
31 male reproductive organ benign neoplasm 10.2 AFP NR5A1
32 duodenitis 10.2 ATP12A ATP4A
33 rumination disorder 10.2 ATP12A ATP4A
34 active peptic ulcer disease 10.2 ATP12A ATP4A
35 congenital disorder of deglycosylation 10.2 ATP12A ATP4A
36 bladder calculus 10.2 ATP12A ATP4A
37 ischemic neuropathy 10.2 ATP12A ATP4A
38 bile reflux 10.1 ATP12A ATP4A
39 capillary disease 10.1 ATP12A ATP4A
40 peptic esophagitis 10.1 ATP12A ATP4A
41 dyskinesia of esophagus 10.1 ATP12A ATP4A
42 hernia, hiatus 10.1 ATP12A ATP4A
43 postsurgical hypothyroidism 10.1 ATP12A ATP4A
44 lymphocytic colitis 10.1 ATP12A ATP4A
45 clostridium difficile colitis 10.1 ATP12A ATP4A
46 diarrhea 1, secretory chloride, congenital 10.1 ATP12A ATP4A
47 microscopic colitis 10.1 ATP12A ATP4A
48 chronic laryngitis 10.1 ATP12A ATP4A
49 eosinophilic gastritis 10.1 ATP12A ATP4A
50 esophagus adenocarcinoma 10.1 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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 ectopic kidney 32 occasional (7.5%) HP:0000086
2 horseshoe kidney 32 occasional (7.5%) HP:0000085
3 renal hypoplasia/aplasia 32 occasional (7.5%) HP:0008678
4 talipes equinovarus 32 frequent (33%) HP:0001762
5 hip dislocation 32 frequent (33%) HP:0002827
6 anal atresia 32 frequent (33%) HP:0002023
7 vesicoureteral reflux 32 hallmark (90%) HP:0000076
8 intestinal malrotation 32 frequent (33%) HP:0002566
9 hypoplasia of penis 32 hallmark (90%) HP:0008736
10 hemivertebrae 32 frequent (33%) HP:0002937
11 ureteropelvic junction obstruction 32 occasional (7.5%) HP:0000074
12 hydroureter 32 occasional (7.5%) HP:0000072
13 omphalocele 32 hallmark (90%) HP:0001539
14 abnormality of tibia morphology 32 frequent (33%) HP:0002992
15 myelomeningocele 32 frequent (33%) HP:0002475
16 intestinal duplication 32 frequent (33%) HP:0100668
17 ureterocele 32 occasional (7.5%) HP:0000070
18 abnormality of the fallopian tube 32 occasional (7.5%) HP:0011027
19 abnormality of the clitoris 32 hallmark (90%) HP:0000056
20 bladder exstrophy 32 hallmark (90%) HP:0002836
21 cloacal exstrophy 32 hallmark (90%) HP:0010475
22 absent foot 32 frequent (33%) HP:0011301
23 abnormality of fibula morphology 32 frequent (33%) HP:0002991

GenomeRNAi Phenotypes related to Cloacal Exstrophy according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.5 LIG3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.5 RPSA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.5 RPSA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.5 TBXT
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.5 TBXT
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.5 RPSA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.5 RPSA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.5 RPSA VSX2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.5 LIG3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.5 VSX2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.5 LIG3 RPSA TBXT VSX2

MGI Mouse Phenotypes related to Cloacal Exstrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 AFP ATP4A FANCB MNX1 NR5A1 RPSA
2 growth/size/body region MP:0005378 9.32 ATP12A FANCB IAPP LIG3 MNX1 NKX2-6

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:

41
Kidney, Bone, Skin, Small Intestine, Uterus

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 198)
# Title Authors Year
1
The intravesical phallus in patients with cloacal exstrophy: An embryologic conundrum. ( 29941348 )
2018
2
Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report. ( 29505857 )
2018
3
Re: Abdominal Compartment Syndrome in a Pediatric Patient with Cloacal Exstrophy. ( 29783571 )
2018
4
Achieving urinary continence in cloacal exstrophy: The surgical cost. ( 29555156 )
2018
5
Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. ( 30029844 )
2018
6
Commentary to 'The intravesical phallus in patients with cloacal exstrophy: an embryologic conundrum'. ( 30150132 )
2018
7
Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy. ( 28893435 )
2017
8
Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy. ( 27889222 )
2017
9
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. ( 29370895 )
2017
10
High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. ( 28202184 )
2017
11
Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy. ( 28924534 )
2017
12
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. ( 28810634 )
2017
13
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
14
Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate. ( 27123401 )
2016
15
Congenital renal anomalies in cloacal exstrophy: Is there a difference? ( 27363330 )
2016
16
Continence in the cloacal exstrophy patient: What does it cost? ( 26775195 )
2016
17
Bacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy. ( 27882741 )
2016
18
Re: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy. ( 27186780 )
2016
19
Complexities of MA1llerian Anatomy in 46XX Cloacal Exstrophy Patients. ( 26851190 )
2016
20
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature. ( 27313937 )
2016
21
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. ( 27114306 )
2016
22
Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in? ( 27989536 )
2016
23
Abdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy. ( 26921644 )
2016
24
Cloacal Exstrophy: A History of Gender Reassignment. ( 26375849 )
2015
25
Clinical outcome of cloacal exstrophy, current status, and a change in surgical management. ( 25422902 )
2015
26
46XX cloacal exstrophy patients. ( 25840085 )
2015
27
A newborn with trisomy 13 presenting with cloacal exstrophy. ( 26690607 )
2015
28
Re: The &amp;quot;Rescue Operation&amp;quot; for Patients with Cloacal Exstrophy and its Variants. ( 26582705 )
2015
29
Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy. ( 25878926 )
2015
30
Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. ( 26257027 )
2015
31
Re: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management. ( 26149728 )
2015
32
Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs. ( 26184880 )
2015
33
Prenatal Diagnosis of Covered Cloacal Exstrophy. ( 25096248 )
2014
34
Response to &amp;quot;re: cloacal exstrophy: a single centre experience&amp;quot;. ( 24485568 )
2014
35
Initial bladder closure of the cloacal exstrophy complex: outcome related risk factors and keys to success. ( 24888858 )
2014
36
Prenatal Diagnosis of Cloacal Exstrophy: AA Case Report and Review of the Literature. ( 24393699 )
2014
37
Re.: 'cloacal exstrophy: a single center experience'. ( 24477420 )
2014
38
Inversion of ileum causing intestinal obstruction: rare complication in cloacal exstrophy. ( 25024986 )
2014
39
The &amp;quot;rescue operation&amp;quot; for patients with cloacal exstrophy and its variants. ( 24817509 )
2014
40
Vaginal reconstruction in female cloacal exstrophy patients. ( 25168550 )
2014
41
Safety and efficacy of staged pelvic osteotomies in the modern treatment of cloacal exstrophy. ( 25155410 )
2014
42
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
43
Fate of the uterus in 46XX cloacal exstrophy patients. ( 24094955 )
2013
44
Cloacal exstrophy with vesicoureteric junction obstruction: rare association. ( 24192477 )
2013
45
Intracranial anomalies and cloacal exstrophy--is there a role for screening? ( 24210196 )
2013
46
Cloacal exstrophy: A single center experience. ( 24230484 )
2013
47
MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. ( 23268122 )
2013
48
Fetal MRI of cloacal exstrophy. ( 23184094 )
2013
49
Cloacal exstrophy: a complex disease. ( 24456784 )
2013
50
Covered cloacal exstrophy--a poorly recognized condition: hints for a correct diagnosis. ( 24314176 )
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 reproductive process GO:0022414 8.96 NR5A1 TBXT
7 progesterone metabolic process GO:0042448 8.62 AFP AKR1C1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 LIG3 MNX1 NKX2-6 NR5A1 SATB2 TBXT
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 MNX1 NKX2-6 NR5A1 SATB2 TBXT TLX1
3 sequence-specific DNA binding GO:0043565 9.17 MNX1 NKX2-6 NR5A1 SATB2 TBXT TLX1
4 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP12A ATP4A
5 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP12A ATP4A

Sources for Cloacal Exstrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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