Aliases & Classifications for Pentalogy of Cantrell

MalaCards integrated aliases for Pentalogy of Cantrell:

Name: Pentalogy of Cantrell 49 69
Cantrell Haller Ravitsch Syndrome 49
Thoraco-Abdominal Syndrome 49
Cantrell Deformity 49
Cantrell Pentalogy 49
Cantrell Syndrome 49

Classifications:



Summaries for Pentalogy of Cantrell

NIH Rare Diseases : 49 Pentalogy of Cantrell is a condition characterized by a combination of midline birth defects that can potentially involve the breastbone (sternum); the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm); the thin membrane that lines the heart (pericardium); the abdominal wall; and the heart. It can have varying degrees of severity, and can be lethal. Most affected infants do not have all potential defects (incomplete pentalogy of Cantrell). The exact cause of the condition is not known. Most cases occur sporadically, but familial cases have been reported. Treatment is based on the symptoms present in each affected person. Last updated: 9/29/2014

MalaCards based summary : Pentalogy of Cantrell, also known as cantrell haller ravitsch syndrome, is related to sternal cleft and thoracoabdominal syndrome, and has symptoms including hypospadias, renal agenesis and renal dysplasia. The drug Pentobarbital has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and colon.

Related Diseases for Pentalogy of Cantrell

Diseases related to Pentalogy of Cantrell via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 sternal cleft 11.6
2 thoracoabdominal syndrome 11.4
3 ectopia cordis 10.5
4 conotruncal heart malformations 10.3
5 craniorachischisis 10.3
6 tetralogy of fallot 10.3
7 omphalocele 10.2
8 exencephaly 10.2
9 hypoplastic left heart syndrome 10.1
10 hypoplastic left heart syndrome 1 10.1
11 oeis complex 10.1
12 aneurysm 10.1
13 abdominal wall defect 10.0
14 hepatitis 10.0
15 scoliosis 10.0
16 blood group, i system 10.0
17 frontonasal dysplasia 1 10.0
18 heart disease 10.0
19 neural tube defects 10.0
20 hemopericardium 10.0
21 pericardial effusion 10.0
22 ventricular septal defect 10.0
23 double outlet left ventricle 10.0
24 colonic atresia 10.0
25 limb-body wall complex 10.0
26 phocomelia 10.0
27 aging 10.0
28 sirenomelia 10.0
29 microphthalmia, isolated 2 10.0
30 multiple mitochondrial dysfunctions syndrome 5 10.0

Graphical network of the top 20 diseases related to Pentalogy of Cantrell:



Diseases related to Pentalogy of Cantrell

Symptoms & Phenotypes for Pentalogy of Cantrell

Human phenotypes related to Pentalogy of Cantrell:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypospadias 31 occasional (7.5%) HP:0000047
2 renal agenesis 31 occasional (7.5%) HP:0000104
3 renal dysplasia 31 occasional (7.5%) HP:0000110
4 cleft palate 31 occasional (7.5%) HP:0000175
5 hydrocephalus 31 occasional (7.5%) HP:0000238
6 abnormality of the sternum 31 hallmark (90%) HP:0000766
7 congenital diaphragmatic hernia 31 hallmark (90%) HP:0000776
8 split hand 31 occasional (7.5%) HP:0001171
9 omphalocele 31 hallmark (90%) HP:0001539
10 ventricular septal defect 31 hallmark (90%) HP:0001629
11 atrial septal defect 31 frequent (33%) HP:0001631
12 tetralogy of fallot 31 occasional (7.5%) HP:0001636
13 abnormal pericardium morphology 31 hallmark (90%) HP:0001697
14 polysplenia 31 occasional (7.5%) HP:0001748
15 talipes 31 occasional (7.5%) HP:0001883
16 encephalocele 31 occasional (7.5%) HP:0002084
17 pulmonary hypoplasia 31 frequent (33%) HP:0002089
18 anencephaly 31 occasional (7.5%) HP:0002323
19 scoliosis 31 occasional (7.5%) HP:0002650
20 abnormality of tibia morphology 31 occasional (7.5%) HP:0002992
21 aplasia/hypoplasia of the radius 31 occasional (7.5%) HP:0006501
22 absent gallbladder 31 occasional (7.5%) HP:0011467
23 non-midline cleft lip 31 occasional (7.5%) HP:0100335

Drugs & Therapeutics for Pentalogy of Cantrell

Drugs for Pentalogy of Cantrell (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pentobarbital Approved, Investigational, Vet_approved 76-74-4 4737

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell Completed NCT02430376
2 Mutations in Genes Associated With Pentalogy of Cantrell Recruiting NCT00083499
3 Genes Mutation Pentalogy of Cantrell Withdrawn NCT00477932

Search NIH Clinical Center for Pentalogy of Cantrell

Genetic Tests for Pentalogy of Cantrell

Anatomical Context for Pentalogy of Cantrell

MalaCards organs/tissues related to Pentalogy of Cantrell:

38
Heart, Lung, Colon, Kidney

Publications for Pentalogy of Cantrell

Articles related to Pentalogy of Cantrell:

(show top 50) (show all 130)
# Title Authors Year
1
Unrepaired Incomplete Pentalogy of Cantrell in a 3-Year-Old Girl. ( 29187114 )
2017
2
Pericardio-Amniotic Shunting for Incomplete Pentalogy of Cantrell. ( 28196368 )
2017
3
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: successful prenatal diagnosis and cesarean delivery. ( 28686315 )
2017
4
Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins. ( 28617177 )
2017
5
Pentalogy of Cantrell: Is Echocardiography Sufficient in the Neonatal Period? ( 28344916 )
2017
6
Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair. ( 28770129 )
2017
7
A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature. ( 28203309 )
2017
8
Severe Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis. ( 28812462 )
2017
9
Bipolar cord coagulation for selective feticide in a monochorionic twin pregnancy complicated by pentalogy of Cantrell. ( 26927267 )
2016
10
Repair of inferior sternal cleft using a titanium plate in an infant with pentalogy of Cantrell. ( 27609343 )
2016
11
Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging. ( 27358306 )
2016
12
Incomplete Pentalogy of Cantrell - A Case Report. ( 26931266 )
2016
13
Pentalogy of Cantrell with Unilateral Kidney Evisceration: A Case Report and Review of Literature. ( 26720496 )
2016
14
5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. ( 25959837 )
2015
15
Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. ( 26152022 )
2015
16
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. ( 25802780 )
2015
17
Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy. ( 26421202 )
2015
18
Pentalogy of Cantrell: Case Report With Review of the Literature. ( 26225594 )
2015
19
Class II pentalogy of Cantrell. ( 26219662 )
2015
20
PENTALOGY OF CANTRELL IN TWINS: A CASE REPORT. ( 26939309 )
2015
21
A case of pentalogy of Cantrell with double outlet right ventricle. ( 26458354 )
2015
22
Successful surgical repair of pentalogy of cantrell at 14 months of age. ( 24906266 )
2014
23
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. ( 25092102 )
2014
24
Pentalogy of Cantrell: the complete spectrum. ( 25378274 )
2014
25
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. ( 24995190 )
2014
26
Pentalogy of Cantrell with Ectopia Cordis: CT Findings. ( 25926914 )
2014
27
Pentalogy of Cantrell: first case reported in Saudi Arabia. ( 24658559 )
2014
28
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. ( 24511499 )
2014
29
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. ( 25385246 )
2014
30
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. ( 24588715 )
2014
31
Adult survivor with repaired complete pentalogy of cantrell. ( 25324259 )
2014
32
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. ( 24733542 )
2014
33
Pentalogy of Cantrell: embryofetoscopic diagnosis. ( 23465262 )
2013
34
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. ( 22883530 )
2013
35
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. ( 23404713 )
2013
36
Pentalogy of Cantrell; complete expression in a nine-month-old-boy. ( 23901184 )
2013
37
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report. ( 24377748 )
2013
38
Prenatal diagnosis of pentalogy of Cantrell at 11-13 weeks: Evidence for a hexalogy. ( 23259889 )
2013
39
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. ( 23548235 )
2013
40
Pentalogy of cantrell: an extremely rare congenital anomaly. ( 24049753 )
2013
41
Pentalogy of Cantrell with Ectopia Cordis Totalis, Total Anomalous Pulmonary Venous Connection, and Tetralogy of Fallot: A Case Report and Review of the Literature. ( 23750667 )
2013
42
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. ( 23979620 )
2013
43
Repair of ectopia cordis using a resorbable poly-L-lactic-polyglycolic acid plate in a patient with pentalogy of Cantrell. ( 22703818 )
2012
44
Incomplete pentalogy of Cantrell: single stage repair. ( 22689715 )
2012
45
Complete Pentalogy of Cantrell with craniorachischisis: a case report. ( 22905305 )
2012
46
Two different pentalogies in an adult patient: a pentalogy of Cantrell associated with a pentalogy of Fallot. ( 22514008 )
2012
47
Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect. ( 22621721 )
2012
48
Pentalogy of Cantrell associated with a double-outlet right ventricle. ( 22964340 )
2012
49
Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia. ( 22900993 )
2012
50
Hepatic pulmonary fusion: two cases with diaphragmatic hernia and one case with Pentalogy of Cantrell. ( 22497683 )
2012

Variations for Pentalogy of Cantrell

Expression for Pentalogy of Cantrell

Search GEO for disease gene expression data for Pentalogy of Cantrell.

Pathways for Pentalogy of Cantrell

GO Terms for Pentalogy of Cantrell

Sources for Pentalogy of Cantrell

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
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69 UMLS
70 UMLS via Orphanet
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