Aliases & Classifications for Cloacal Exstrophy

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, and has symptoms including hip dislocation, hemivertebrae and talipes equinovarus. 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 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 72)
id Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 12.4
2 fronto nasal malformation cloacal exstrophy 12.1
3 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.9
4 oeis complex 11.6
5 exstrophy of bladder 11.3
6 sertoli cell-only syndrome 10.7 AFP MNX1
7 hand, foot and mouth disease 10.6 MNX1 SATB2
8 spastic paraplegia 37, autosomal dominant 10.5 AFP SATB2
9 shwachman-diamond type metaphyseal dysplasia 10.4 AFP MNX1 SATB2
10 scrotum melanoma 10.4 ATP12A ATP4A
11 congenital aphakia 10.3 ATP12A ATP4A
12 angelucci's syndrome 10.3 AFP ATP4A
13 shwartzman phenomenon 10.3 ATP12A ATP4A
14 primary syphilis 10.3 ATP12A ATP4A
15 bone giant cell sarcoma 10.3 ATP12A ATP4A
16 urethral calculus 10.3 ATP12A ATP4A
17 breast ductal adenoma 10.3 ATP12A ATP4A
18 hypopituitarism 10.3 ATP12A ATP4A
19 amyotrophic lateral sclerosis type 5 10.3 ATP12A ATP4A
20 abnormal pupillary function 10.3 ATP12A ATP4A
21 atheroembolism of kidney 10.3 ATP12A ATP4A
22 microphthalmia, syndromic 12 10.3 ATP12A ATP4A
23 synostosis 10.3 ATP12A ATP4A
24 muscle cancer 10.3 ATP12A ATP4A
25 adult xanthogranuloma 10.3 ATP12A ATP4A
26 polysyndactyly with cardiac malformation 10.3 ATP12A ATP4A
27 proliferative fasciitis 10.2 ATP12A ATP4A
28 hodgkin's paragranuloma 10.2 ATP12A ATP4A
29 bladder neck cancer 10.2 ATP12A ATP4A
30 spinocerebellar ataxia 18 10.2 ATP12A ATP4A
31 intracranial sinus thrombosis 10.2 ATP12A ATP4A
32 fungal gastritis 10.2 ATP12A ATP4A
33 epispadias 10.2
34 esophageal atresia 10.2 NKX2-6 SATB2
35 cubitus valgus with mental retardation and unusual facies 10.1 ATP12A ATP4A
36 villous adenocarcinoma 10.1 ATP12A ATP4A
37 ileocolitis 10.1 ATP12A ATP4A
38 abdominal wall defect 10.1
39 allergic urticaria 10.1 ATP12A ATP4A
40 mesenteric vascular occlusion 10.0 ATP12A ATP4A
41 gastroschisis 10.0
42 omphalocele 10.0
43 myelocystocele 10.0
44 fuchs' endothelial dystrophy 10.0 AFP KANTR
45 adenosquamous bile duct carcinoma 10.0 AFP KANTR
46 tuberculum sellae meningioma 9.9 AFP ATP12A ATP4A
47 scleral staphyloma 9.9 ATP12A ATP4A
48 urethritis 9.9
49 penile agenesis 9.9
50 squamous cell carcinoma 9.9

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

MGI Mouse Phenotypes related to Cloacal Exstrophy:

44
id 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 FANCB IAPP LIG3 MNX1 NKX2-6 NR5A1

Drugs & Therapeutics for Cloacal Exstrophy

Interventional clinical trials:


id 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:

39
Kidney, Bone, Skin, Small Intestine, Uterus

Publications for Cloacal Exstrophy

Articles related to Cloacal Exstrophy:

(show top 50) (show all 188)
id Title Authors Year
1
Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report. ( 28810634 )
2017
2
High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. ( 28202184 )
2017
3
Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy. ( 28893435 )
2017
4
Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy. ( 27889222 )
2017
5
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
6
Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy. ( 28924534 )
2017
7
Abdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy. ( 26921644 )
2016
8
Continence in the cloacal exstrophy patient: What does it cost? ( 26775195 )
2016
9
Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate. ( 27123401 )
2016
10
Congenital renal anomalies in cloacal exstrophy: Is there a difference? ( 27363330 )
2016
11
Growth morbidity in patients with cloacal exstrophy: a 42-year experience. ( 27114306 )
2016
12
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature. ( 27313937 )
2016
13
Re: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy. ( 27186780 )
2016
14
Complexities of MA1llerian Anatomy in 46XX Cloacal Exstrophy Patients. ( 26851190 )
2016
15
Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in? ( 27989536 )
2016
16
Bacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy. ( 27882741 )
2016
17
Clinical outcome of cloacal exstrophy, current status, and a change in surgical management. ( 25422902 )
2015
18
Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs. ( 26184880 )
2015
19
Cloacal Exstrophy: A History of Gender Reassignment. ( 26375849 )
2015
20
46XX cloacal exstrophy patients. ( 25840085 )
2015
21
A newborn with trisomy 13 presenting with cloacal exstrophy. ( 26690607 )
2015
22
Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. ( 26257027 )
2015
23
Re: The "Rescue Operation" for Patients with Cloacal Exstrophy and its Variants. ( 26582705 )
2015
24
Re: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management. ( 26149728 )
2015
25
Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy. ( 25878926 )
2015
26
Vaginal reconstruction in female cloacal exstrophy patients. ( 25168550 )
2014
27
Response to "re: cloacal exstrophy: a single centre experience". ( 24485568 )
2014
28
The "rescue operation" for patients with cloacal exstrophy and its variants. ( 24817509 )
2014
29
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
30
Inversion of ileum causing intestinal obstruction: rare complication in cloacal exstrophy. ( 25024986 )
2014
31
Safety and efficacy of staged pelvic osteotomies in the modern treatment of cloacal exstrophy. ( 25155410 )
2014
32
Initial bladder closure of the cloacal exstrophy complex: outcome related risk factors and keys to success. ( 24888858 )
2014
33
Re.: 'cloacal exstrophy: a single center experience'. ( 24477420 )
2014
34
Prenatal Diagnosis of Covered Cloacal Exstrophy. ( 25096248 )
2014
35
Prenatal Diagnosis of Cloacal Exstrophy: AA Case Report and Review of the Literature. ( 24393699 )
2014
36
Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature. ( 23760474 )
2013
37
Covered cloacal exstrophy--a poorly recognized condition: hints for a correct diagnosis. ( 24314176 )
2013
38
Fate of the uterus in 46XX cloacal exstrophy patients. ( 24094955 )
2013
39
Fetal MRI of cloacal exstrophy. ( 23184094 )
2013
40
Is it really a hamartoma? Bringing awareness to the possibility of an intravesical phallus in the aphallic 46,xy cloacal exstrophy patient. ( 23953639 )
2013
41
Cloacal exstrophy: A single center experience. ( 24230484 )
2013
42
Intracranial anomalies and cloacal exstrophy--is there a role for screening? ( 24210196 )
2013
43
MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. ( 23268122 )
2013
44
Cloacal exstrophy: a complex disease. ( 24456784 )
2013
45
Cloacal exstrophy with vesicoureteric junction obstruction: rare association. ( 24192477 )
2013
46
Classical cloacal exstrophy with intravesical phallus. ( 22813829 )
2012
47
Antenatal diagnosis of bladder/cloacal exstrophy: challenges and possible solutions. ( 21641871 )
2012
48
Cloacal exstrophy variant with intravesical phallus: further description of anatomy and implications for gender reassignment. ( 22061965 )
2012
49
Histopathologic analysis of bladder in patient with cloacal exstrophy. ( 22480461 )
2012
50
Prenatal counseling for cloaca and cloacal exstrophy-challenges faced by pediatric surgeons. ( 22878705 )
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:

id 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 T

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.17 MNX1 NKX2-6 NR5A1 SATB2 T 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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