Aliases & Classifications for Cloacal Exstrophy

MalaCards integrated aliases for Cloacal Exstrophy:

Name: Cloacal Exstrophy 12 76 37 15

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 duodenitis and bladder exstrophy-epispadias-cloacal exstrophy complex. An important gene associated with Cloacal Exstrophy is MT-RNR1 (Mitochondrially Encoded 12S RNA). Affiliated tissues include kidney, bone and uterus, and related phenotypes are abnormality of the clitoris and ureterocele

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 91)
# Related Disease Score Top Affiliating Genes
1 duodenitis 30.6 ATP12A ATP4A
2 bladder exstrophy-epispadias-cloacal exstrophy complex 12.6
3 fronto nasal malformation cloacal exstrophy 12.2
4 oeis complex 12.1
5 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.0
6 exstrophy of bladder 11.8
7 sacrococcygeal teratoma 10.7 AFP MNX1
8 meningocele 10.7 MNX1 SATB2
9 anus, imperforate 10.6 MNX1 SATB2
10 sc phocomelia syndrome 10.6 AFP SATB2
11 fungal esophagitis 10.5 ATP12A ATP4A
12 bladder calculus 10.5 ATP12A ATP4A
13 gastrointestinal neuroendocrine benign tumor 10.5 ATP12A ATP4A
14 neonatal candidiasis 10.5 ATP12A ATP4A
15 photoallergic dermatitis 10.4 ATP12A ATP4A
16 squamous papillomatosis 10.4 ATP12A ATP4A
17 acute laryngitis 10.4 ATP12A ATP4A
18 gastroduodenal crohn's disease 10.4 ATP12A ATP4A
19 gastric neuroendocrine neoplasm 10.4 ATP12A ATP4A
20 toxic megacolon 10.4 ATP12A ATP4A
21 aspiration pneumonitis 10.4 ATP12A ATP4A
22 postsurgical hypothyroidism 10.4 ATP12A ATP4A
23 gastric antral vascular ectasia 10.4 ATP12A ATP4A
24 esophageal candidiasis 10.4 ATP12A ATP4A
25 rumination disorder 10.4 ATP12A ATP4A
26 bile reflux 10.4 ATP12A ATP4A
27 physical disorder 10.4 AFP MNX1 SATB2
28 granulomatous gastritis 10.4 ATP12A ATP4A
29 active peptic ulcer disease 10.4 ATP12A ATP4A
30 laryngeal disease 10.4 ATP12A ATP4A
31 ischemic neuropathy 10.4 ATP12A ATP4A
32 capillary disease 10.4 ATP12A ATP4A
33 peptic esophagitis 10.4 ATP12A ATP4A
34 duodenal disease 10.4 ATP12A ATP4A
35 dyskinesia of esophagus 10.4 ATP12A ATP4A
36 oculomotor nerve paralysis 10.4 AFP KANTR
37 hernia, hiatus 10.4 ATP12A ATP4A
38 third cranial nerve disease 10.3 AFP KANTR
39 congenital disorder of deglycosylation 10.3 ATP12A ATP4A
40 laryngitis 10.3 ATP12A ATP4A
41 lymphocytic colitis 10.3 ATP12A ATP4A
42 clostridium difficile colitis 10.3 ATP12A ATP4A
43 lower urinary tract calculus 10.3 ATP12A ATP4A
44 aspiration pneumonia 10.3 ATP12A ATP4A
45 diarrhea 1, secretory chloride, congenital 10.3 ATP12A ATP4A
46 chronic laryngitis 10.3 ATP12A ATP4A
47 epispadias 10.3
48 eosinophilic gastritis 10.3 ATP12A ATP4A
49 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 ATP12A ATP4A
50 esophagus adenocarcinoma 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:

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

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 VSX2 RPSA
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 VSX2 LIG3 RPSA TBXT

MGI Mouse Phenotypes related to Cloacal Exstrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 RPSA SATB2 VSX2 AFP ATP4A FANCB
2 growth/size/body region MP:0005378 9.32 NR5A1 RPSA SATB2 TBXT ATP12A FANCB

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, Uterus, Skin, Small Intestine

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 193)
# 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
Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy. ( 28893435 )
2017
6
Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy. ( 27889222 )
2017
7
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. ( 29370895 )
2017
8
High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. ( 28202184 )
2017
9
Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy. ( 28924534 )
2017
10
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. ( 28810634 )
2017
11
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
12
Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate. ( 27123401 )
2016
13
Congenital renal anomalies in cloacal exstrophy: Is there a difference? ( 27363330 )
2016
14
Continence in the cloacal exstrophy patient: What does it cost? ( 26775195 )
2016
15
Bacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy. ( 27882741 )
2016
16
Re: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy. ( 27186780 )
2016
17
Complexities of MA1llerian Anatomy in 46XX Cloacal Exstrophy Patients. ( 26851190 )
2016
18
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature. ( 27313937 )
2016
19
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. ( 27114306 )
2016
20
Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in? ( 27989536 )
2016
21
Abdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy. ( 26921644 )
2016
22
Cloacal Exstrophy: A History of Gender Reassignment. ( 26375849 )
2015
23
Clinical outcome of cloacal exstrophy, current status, and a change in surgical management. ( 25422902 )
2015
24
46XX cloacal exstrophy patients. ( 25840085 )
2015
25
A newborn with trisomy 13 presenting with cloacal exstrophy. ( 26690607 )
2015
26
Re: The &amp;quot;Rescue Operation&amp;quot; for Patients with Cloacal Exstrophy and its Variants. ( 26582705 )
2015
27
Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy. ( 25878926 )
2015
28
Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. ( 26257027 )
2015
29
Re: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management. ( 26149728 )
2015
30
Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs. ( 26184880 )
2015
31
Prenatal Diagnosis of Covered Cloacal Exstrophy. ( 25096248 )
2014
32
Response to &amp;quot;re: cloacal exstrophy: a single centre experience&amp;quot;. ( 24485568 )
2014
33
Initial bladder closure of the cloacal exstrophy complex: outcome related risk factors and keys to success. ( 24888858 )
2014
34
Prenatal Diagnosis of Cloacal Exstrophy: AA Case Report and Review of the Literature. ( 24393699 )
2014
35
Re.: 'cloacal exstrophy: a single center experience'. ( 24477420 )
2014
36
Inversion of ileum causing intestinal obstruction: rare complication in cloacal exstrophy. ( 25024986 )
2014
37
The &amp;quot;rescue operation&amp;quot; for patients with cloacal exstrophy and its variants. ( 24817509 )
2014
38
Vaginal reconstruction in female cloacal exstrophy patients. ( 25168550 )
2014
39
Safety and efficacy of staged pelvic osteotomies in the modern treatment of cloacal exstrophy. ( 25155410 )
2014
40
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
41
Fate of the uterus in 46XX cloacal exstrophy patients. ( 24094955 )
2013
42
Cloacal exstrophy with vesicoureteric junction obstruction: rare association. ( 24192477 )
2013
43
Intracranial anomalies and cloacal exstrophy--is there a role for screening? ( 24210196 )
2013
44
Cloacal exstrophy: A single center experience. ( 24230484 )
2013
45
MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. ( 23268122 )
2013
46
Fetal MRI of cloacal exstrophy. ( 23184094 )
2013
47
Cloacal exstrophy: a complex disease. ( 24456784 )
2013
48
Covered cloacal exstrophy--a poorly recognized condition: hints for a correct diagnosis. ( 24314176 )
2013
49
Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature. ( 23760474 )
2013
50
Is it really a hamartoma? Bringing awareness to the possibility of an intravesical phallus in the aphallic 46,xy cloacal exstrophy patient. ( 23953639 )
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 9.43 ATP12A ATP4A
2 cellular sodium ion homeostasis GO:0006883 9.4 ATP12A ATP4A
3 cellular potassium ion homeostasis GO:0030007 9.37 ATP12A ATP4A
4 sodium ion export across plasma membrane GO:0036376 9.32 ATP12A ATP4A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.26 ATP12A ATP4A
6 regulation of transcription by RNA polymerase II GO:0006357 9.17 MNX1 NKX2-6 NR5A1 SATB2 TBXT TLX1
7 reproductive process GO:0022414 9.16 NR5A1 TBXT
8 progesterone metabolic process GO:0042448 8.96 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 RNA polymerase II transcription factor activity, sequence-specific DNA binding 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

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10 dbSNP
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17 ExPASy
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74 UMLS via Orphanet
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