Aliases & Classifications for Cloacal Exstrophy

MalaCards integrated aliases for Cloacal Exstrophy:

Name: Cloacal Exstrophy 12 72 36 14

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, and has symptoms including abnormality of the clitoris, ureterocele and hydroureter. 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 endocrine/exocrine gland and growth/size/body region

Wikipedia : 72 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 duodenitis 30.5 ATP12A ATP4A
2 bladder exstrophy-epispadias-cloacal exstrophy complex 12.6
3 fronto nasal malformation cloacal exstrophy 12.2
4 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.0
5 exstrophy of bladder 11.7
6 oeis complex 11.7
7 sacrococcygeal teratoma 10.5 AFP MNX1
8 meningocele 10.5 MNX1 SATB2
9 sc phocomelia syndrome 10.5 AFP SATB2
10 anus, imperforate 10.4 MNX1 SATB2
11 fungal esophagitis 10.4 ATP12A ATP4A
12 bladder calculus 10.4 ATP12A ATP4A
13 gastrointestinal neuroendocrine benign tumor 10.4 ATP12A ATP4A
14 gastric neuroendocrine neoplasm 10.4 ATP12A ATP4A
15 neonatal candidiasis 10.4 ATP12A ATP4A
16 photoallergic dermatitis 10.4 ATP12A ATP4A
17 squamous papillomatosis 10.4 ATP12A ATP4A
18 acute laryngitis 10.4 ATP12A ATP4A
19 gastroduodenal crohn's disease 10.4 ATP12A ATP4A
20 toxic megacolon 10.4 ATP12A ATP4A
21 aspiration pneumonitis 10.4 ATP12A ATP4A
22 gastric antral vascular ectasia 10.4 ATP12A ATP4A
23 esophageal candidiasis 10.4 ATP12A ATP4A
24 postsurgical hypothyroidism 10.4 ATP12A ATP4A
25 rumination disorder 10.4 ATP12A ATP4A
26 laryngeal disease 10.4 ATP12A ATP4A
27 congenital disorder of deglycosylation 10.4 ATP12A ATP4A
28 bile reflux 10.4 ATP12A ATP4A
29 granulomatous gastritis 10.3 ATP12A ATP4A
30 active peptic ulcer disease 10.3 ATP12A ATP4A
31 dyskinesia of esophagus 10.3 ATP12A ATP4A
32 ischemic neuropathy 10.3 ATP12A ATP4A
33 capillary disease 10.3 ATP12A ATP4A
34 physical disorder 10.3 AFP MNX1 SATB2
35 peptic esophagitis 10.3 ATP12A ATP4A
36 duodenal disease 10.3 ATP12A ATP4A
37 hernia, hiatus 10.3 ATP12A ATP4A
38 laryngitis 10.3 ATP12A ATP4A
39 lymphocytic colitis 10.3 ATP12A ATP4A
40 chronic intestinal vascular insufficiency 10.3 ATP12A ATP4A
41 clostridium difficile colitis 10.3 ATP12A ATP4A
42 lower urinary tract calculus 10.3 ATP12A ATP4A
43 diarrhea 1, secretory chloride, congenital 10.3 ATP12A ATP4A
44 polyposis, skin pigmentation, alopecia, and fingernail changes 10.3 ATP12A ATP4A
45 aspiration pneumonia 10.3 ATP12A ATP4A
46 epispadias 10.3
47 chronic laryngitis 10.3 ATP12A ATP4A
48 oculomotor nerve paralysis 10.2 AFP KANTR
49 eosinophilic gastritis 10.2 ATP12A ATP4A
50 third cranial nerve disease 10.2 AFP KANTR

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

MGI Mouse Phenotypes related to Cloacal Exstrophy:

43
# 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 RPSA SATB2 TBXT ATP12A FANCB IAPP

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:

38
Kidney, Bone, Uterus, Skin, Small Intestine

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 189)
# Title Authors Year
1
Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy. ( 27889222 )
2017
2
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
3
Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy. ( 28924534 )
2017
4
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. ( 28810634 )
2017
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
Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children. ( 29370895 )
2017
7
High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. ( 28202184 )
2017
8
Complexities of MA1llerian Anatomy in 46XX Cloacal Exstrophy Patients. ( 26851190 )
2016
9
Continence in the cloacal exstrophy patient: What does it cost? ( 26775195 )
2016
10
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. ( 27114306 )
2016
11
Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in? ( 27989536 )
2016
12
Bacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy. ( 27882741 )
2016
13
Congenital renal anomalies in cloacal exstrophy: Is there a difference? ( 27363330 )
2016
14
Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate. ( 27123401 )
2016
15
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature. ( 27313937 )
2016
16
Abdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy. ( 26921644 )
2016
17
Re: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy. ( 27186780 )
2016
18
Re: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management. ( 26149728 )
2015
19
Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy. ( 25878926 )
2015
20
Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs. ( 26184880 )
2015
21
Re: The "Rescue Operation" for Patients with Cloacal Exstrophy and its Variants. ( 26582705 )
2015
22
Clinical outcome of cloacal exstrophy, current status, and a change in surgical management. ( 25422902 )
2015
23
46XX cloacal exstrophy patients. ( 25840085 )
2015
24
Cloacal Exstrophy: A History of Gender Reassignment. ( 26375849 )
2015
25
A newborn with trisomy 13 presenting with cloacal exstrophy. ( 26690607 )
2015
26
Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. ( 26257027 )
2015
27
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
28
The "rescue operation" for patients with cloacal exstrophy and its variants. ( 24817509 )
2014
29
Initial bladder closure of the cloacal exstrophy complex: outcome related risk factors and keys to success. ( 24888858 )
2014
30
Inversion of ileum causing intestinal obstruction: rare complication in cloacal exstrophy. ( 25024986 )
2014
31
Vaginal reconstruction in female cloacal exstrophy patients. ( 25168550 )
2014
32
Re.: 'cloacal exstrophy: a single center experience'. ( 24477420 )
2014
33
Response to "re: cloacal exstrophy: a single centre experience". ( 24485568 )
2014
34
Safety and efficacy of staged pelvic osteotomies in the modern treatment of cloacal exstrophy. ( 25155410 )
2014
35
Prenatal Diagnosis of Covered Cloacal Exstrophy. ( 25096248 )
2014
36
Prenatal Diagnosis of Cloacal Exstrophy: AA Case Report and Review of the Literature. ( 24393699 )
2014
37
Is it really a hamartoma? Bringing awareness to the possibility of an intravesical phallus in the aphallic 46,xy cloacal exstrophy patient. ( 23953639 )
2013
38
MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. ( 23268122 )
2013
39
Covered cloacal exstrophy--a poorly recognized condition: hints for a correct diagnosis. ( 24314176 )
2013
40
Cloacal exstrophy: A single center experience. ( 24230484 )
2013
41
Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature. ( 23760474 )
2013
42
Cloacal exstrophy: a complex disease. ( 24456784 )
2013
43
Cloacal exstrophy with vesicoureteric junction obstruction: rare association. ( 24192477 )
2013
44
Intracranial anomalies and cloacal exstrophy--is there a role for screening? ( 24210196 )
2013
45
Fate of the uterus in 46XX cloacal exstrophy patients. ( 24094955 )
2013
46
Fetal MRI of cloacal exstrophy. ( 23184094 )
2013
47
Classical cloacal exstrophy with intravesical phallus. ( 22813829 )
2012
48
Histopathologic analysis of bladder in patient with cloacal exstrophy. ( 22480461 )
2012
49
Prenatal counseling for cloaca and cloacal exstrophy-challenges faced by pediatric surgeons. ( 22878705 )
2012
50
Cloacal exstrophy variant with intravesical phallus: further description of anatomy and implications for gender reassignment. ( 22061965 )
2012

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 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.16 ATP12A ATP4A
2 progesterone metabolic process GO:0042448 8.96 AFP AKR1C1
3 reproductive process GO:0022414 8.62 NR5A1 TBXT

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 9.17 MNX1 NKX2-6 NR5A1 SATB2 TBXT TLX1
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP12A ATP4A
3 hydrogen:potassium-exchanging ATPase activity GO:0008900 8.96 ATP12A ATP4A

Sources for Cloacal Exstrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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