MCID: PNT005
MIFTS: 26

Pentalogy of Cantrell malady

Categories: Rare diseases

Aliases & Classifications for Pentalogy of Cantrell

Aliases & Descriptions for Pentalogy of Cantrell:

Name: Pentalogy of Cantrell 50 69
Cantrell Haller Ravitsch Syndrome 50
Thoraco-Abdominal Syndrome 50
Cantrell Deformity 50
Cantrell Pentalogy 50
Cantrell Syndrome 50

Classifications:



Summaries for Pentalogy of Cantrell

NIH Rare Diseases : 50 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 thoracoabdominal syndrome and sternal cleft, and has symptoms including hydrocephalus, scoliosis and cleft palate. The drug Pentobarbital has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and kidney.

Wikipedia : 71 Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving... more...

Related Diseases for Pentalogy of Cantrell

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

(show all 20)
id Related Disease Score Top Affiliating Genes
1 thoracoabdominal syndrome 11.8
2 sternal cleft 11.4
3 ectopia cordis 10.4
4 craniorachischisis 10.3
5 tetralogy of fallot 10.2
6 exencephaly 10.2
7 aneurysm 10.1
8 hypoplastic left heart syndrome 10.1
9 omphalocele 10.1
10 sirenomelia 9.9
11 colonic atresia 9.9
12 oeis complex 9.9
13 hepatitis 9.9
14 scoliosis 9.9
15 heart disease 9.9
16 pericardial effusion 9.9
17 ventricular septal defect 9.9
18 double outlet left ventricle 9.9
19 limb-body wall complex 9.9
20 phocomelia 9.9

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:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 scoliosis 32 HP:0002650
3 cleft palate 32 HP:0000175
4 non-midline cleft lip 32 HP:0100335
5 hypospadias 32 HP:0000047
6 tetralogy of fallot 32 HP:0001636
7 ventricular septal defect 32 HP:0001629
8 split hand 32 HP:0001171
9 abnormality of the sternum 32 HP:0000766
10 talipes 32 HP:0001883
11 encephalocele 32 HP:0002084
12 anencephaly 32 HP:0002323
13 congenital diaphragmatic hernia 32 HP:0000776
14 omphalocele 32 HP:0001539
15 aplasia/hypoplasia of the radius 32 HP:0006501
16 abnormality of the tibia 32 HP:0002992
17 renal agenesis 32 HP:0000104
18 pulmonary hypoplasia 32 HP:0002089
19 abnormality of the pericardium 32 HP:0001697
20 polysplenia 32 HP:0001748
21 renal dysplasia 32 HP:0000110
22 absent gallbladder 32 HP:0011467
23 atrial septal defect 32 HP:0001631

Drugs & Therapeutics for Pentalogy of Cantrell

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
Heart, Lung, Kidney, Colon

Publications for Pentalogy of Cantrell

Articles related to Pentalogy of Cantrell:

(show top 50) (show all 122)
id Title Authors Year
1
Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging. ( 27358306 )
2016
2
Incomplete Pentalogy of Cantrell - A Case Report. ( 26931266 )
2016
3
Pentalogy of Cantrell with Unilateral Kidney Evisceration: A Case Report and Review of Literature. ( 26720496 )
2016
4
Repair of inferior sternal cleft using a titanium plate in an infant with pentalogy of Cantrell. ( 27609343 )
2016
5
Bipolar cord coagulation for selective feticide in a monochorionic twin pregnancy complicated by pentalogy of Cantrell. ( 26927267 )
2016
6
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. ( 25802780 )
2015
7
PENTALOGY OF CANTRELL IN TWINS: A CASE REPORT. ( 26939309 )
2015
8
Class II pentalogy of Cantrell. ( 26219662 )
2015
9
Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy. ( 26421202 )
2015
10
5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. ( 25959837 )
2015
11
Pentalogy of Cantrell: Case Report With Review of the Literature. ( 26225594 )
2015
12
Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. ( 26152022 )
2015
13
A case of pentalogy of Cantrell with double outlet right ventricle. ( 26458354 )
2015
14
Pentalogy of Cantrell with Ectopia Cordis: CT Findings. ( 25926914 )
2014
15
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. ( 25385246 )
2014
16
Pentalogy of Cantrell: first case reported in Saudi Arabia. ( 24658559 )
2014
17
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. ( 24511499 )
2014
18
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. ( 24588715 )
2014
19
Adult survivor with repaired complete pentalogy of cantrell. ( 25324259 )
2014
20
Successful surgical repair of pentalogy of cantrell at 14 months of age. ( 24906266 )
2014
21
Pentalogy of Cantrell: the complete spectrum. ( 25378274 )
2014
22
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. ( 24995190 )
2014
23
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. ( 25092102 )
2014
24
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. ( 24733542 )
2014
25
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. ( 22883530 )
2013
26
Pentalogy of cantrell: an extremely rare congenital anomaly. ( 24049753 )
2013
27
Prenatal diagnosis of pentalogy of Cantrell at 11-13 weeks: Evidence for a hexalogy. ( 23259889 )
2013
28
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. ( 23548235 )
2013
29
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. ( 23404713 )
2013
30
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report. ( 24377748 )
2013
31
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. ( 23979620 )
2013
32
Pentalogy of Cantrell; complete expression in a nine-month-old-boy. ( 23901184 )
2013
33
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
34
Pentalogy of Cantrell: embryofetoscopic diagnosis. ( 23465262 )
2013
35
Repair of ectopia cordis using a resorbable poly-L-lactic-polyglycolic acid plate in a patient with pentalogy of Cantrell. ( 22703818 )
2012
36
Incomplete pentalogy of Cantrell: single stage repair. ( 22689715 )
2012
37
Complete Pentalogy of Cantrell with craniorachischisis: a case report. ( 22905305 )
2012
38
Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect. ( 22621721 )
2012
39
Hepatic pulmonary fusion: two cases with diaphragmatic hernia and one case with Pentalogy of Cantrell. ( 22497683 )
2012
40
Pentalogy of cantrell: surgical resection of a biventricular diverticulum. ( 23804881 )
2012
41
Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia. ( 22900993 )
2012
42
Pentalogy of Cantrell associated with a double-outlet right ventricle. ( 22964340 )
2012
43
Two different pentalogies in an adult patient: a pentalogy of Cantrell associated with a pentalogy of Fallot. ( 22514008 )
2012
44
Pentalogy of Cantrell and supernumerary naris. ( 22029172 )
2011
45
Incomplete pentalogy of Cantrell during first trimester of pregnancy. ( 21747348 )
2011
46
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. ( 21812640 )
2011
47
Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease. ( 21210095 )
2011
48
Ectopia cordis with tetralogy of Fallot in an infant with pentalogy of Cantrell: high-pitch MDCT exam. ( 21174085 )
2011
49
A variant of pentalogy of Cantrell in a live birth. ( 21494004 )
2011
50
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. ( 21484999 )
2011

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
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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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