MCID: PNT005
MIFTS: 21

Pentalogy of Cantrell malady

Category: Rare diseases

Aliases & Classifications for Pentalogy of Cantrell

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Aliases & Descriptions for Pentalogy of Cantrell:

Name: Pentalogy of Cantrell 48 68
Cantrell Haller Ravitsch Syndrome 48
Thoraco-Abdominal Syndrome 48
 
Cantrell Deformity 48
Cantrell Pentalogy 48
Cantrell Syndrome 48

Classifications:



Summaries for Pentalogy of Cantrell

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NIH Rare Diseases:48 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. Affiliated tissues include heart, lung and colon.

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

Related Diseases for Pentalogy of Cantrell

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

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1thoracoabdominal syndrome11.8
2sternal cleft11.4
3ectopia cordis10.4
4craniorachischisis10.3
5tetralogy of fallot10.2
6exencephaly10.2
7hypoplastic left heart syndrome10.1
8omphalocele10.1
9aneurysm10.1
10colonic atresia9.9
11oeis complex9.9
12hepatitis9.9
13scoliosis9.9
14heart disease9.9
15pericardial effusion9.9
16ventricular septal defect9.9
17double outlet left ventricle9.9
18limb-body wall complex9.9
19phocomelia9.9
20sirenomelia9.9

Graphical network of diseases related to Pentalogy of Cantrell:



Diseases related to pentalogy of cantrell

Symptoms & Phenotypes for Pentalogy of Cantrell

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Drugs & Therapeutics for Pentalogy of Cantrell

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pentobarbitalapproved, vet_approved1076-74-44737
Synonyms:
(+-)-5-Ethyl-5-(1-methylbutyl)barbituric acid
5-24-09-00168 (Beilstein Handbook Reference)
5-Ethyl-5-(1-methyl-butyl)-pyrimidine-2,4,6-trione
5-Ethyl-5-(1-methylbutyl)-2,4,6(1H,3H,5H)-pyrimidinetrione
5-Ethyl-5-(1-methylbutyl)barbituric acid
5-Ethyl-5-(1-methylbutyl)malonylurea
5-Ethyl-5-(sec-pentyl)barbituric acid
5-ethyl-2-hydroxy-5-(1-methylbutyl)pyrimidine-4,6(1H,5H)-dione
5-ethyl-5-(1-methylbutyl)barbituric acid
5-ethyl-5-(pentan-2-yl)pyrimidine-2,4,6(1H,3H,5H)-trione
5-ethyl-5-(sec-pentyl)barbituric acid
5-ethyl-5-pentan-2-yl-1,3-diazinane-2,4,6-trione
57-33-0 (mono-hydrochloride salt)
76-74-4
AC1L1IUE
AC1Q2UJM
AKOS000277861
Aethaminalum
BRN 0087067
BSPBio_003305
C07422
CCRIS 7089
CHEBI:7983
CHEMBL448
CID4737
D00499
DB00312
DEA No. 2270
DivK1c_000992
Dorsital
EINECS 200-983-8
Etaminal
Ethaminal
Ethyl-propylmethylcarbinylbarbituric acid
HMS2094E21
HMS503G05
HSDB 3151
IDI1_000992
KBio1_000992
KBio2_002266
KBio2_004834
KBio2_007402
KBio3_002807
KBioGR_001008
KBioSS_002267
LS-24385
 
Mebubarbital
Mebumal
MolPort-001-785-697
MolPort-003-666-760
NCGC00096074-01
NCGC00096074-02
NINDS_000992
NSC 28708
NSC28708
Nebralin
Nembutal
Nembutal (TN)
Nembutal (VAN)
Neodorm
Neodorm (VAN)
Neodorm (new)
Oprea1_143902
Oprea1_775730
Pentabarbital
Pentabarbitone
Pentobarbital
Pentobarbital (USP/INN)
Pentobarbital (VAN)
Pentobarbital [USP:INN]
Pentobarbital calcium
Pentobarbital suppository dosage form
Pentobarbital, Monosodium Salt
Pentobarbitale
Pentobarbitale [DCIT]
Pentobarbitalum
Pentobarbitalum [INN-Latin]
Pentobarbitone
Pentobarbitone (VAN)
Pentobarbiturate
Pentobarbituric acid
Rivadorm
SPBio_002201
SPECTRUM1900006
Sodium Pentobarbital
Spectrum2_001991
Spectrum3_001783
Spectrum4_000574
Spectrum5_001705
Spectrum_001783
UNII-I4744080IR
WLN: T6VMVMV FHJ FY3&1 F2
pentobarbital

Interventional clinical trials:

idNameStatusNCT IDPhase
1dbGaP Protocol: Genetic Variants Associated With Pentalogy of CantrellCompletedNCT02430376
2Mutations in Genes Associated With Pentalogy of CantrellRecruitingNCT00083499
3Genes Mutation Pentalogy of CantrellWithdrawnNCT00477932

Search NIH Clinical Center for Pentalogy of Cantrell

Genetic Tests for Pentalogy of Cantrell

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Anatomical Context for Pentalogy of Cantrell

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MalaCards organs/tissues related to Pentalogy of Cantrell:

36
Heart, Lung, Colon, Kidney

Publications for Pentalogy of Cantrell

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Articles related to Pentalogy of Cantrell:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Bipolar cord coagulation for selective feticide in a monochorionic twin pregnancy complicated by pentalogy of Cantrell. (26927267)
2016
2
Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging. (27358306)
2016
3
Incomplete Pentalogy of Cantrell - A Case Report. (26931266)
2016
4
Repair of inferior sternal cleft using a titanium plate in an infant with pentalogy of Cantrell. (27609343)
2016
5
Pentalogy of Cantrell with Unilateral Kidney Evisceration: A Case Report and Review of Literature. (26720496)
2016
6
Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy. (26421202)
2015
7
5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. (25959837)
2015
8
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. (25802780)
2015
9
Pentalogy of Cantrell: Case Report With Review of the Literature. (26225594)
2015
10
Class II pentalogy of Cantrell. (26219662)
2015
11
Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. (26152022)
2015
12
PENTALOGY OF CANTRELL IN TWINS: A CASE REPORT. (26939309)
2015
13
A case of pentalogy of Cantrell with double outlet right ventricle. (26458354)
2015
14
Pentalogy of Cantrell: the complete spectrum. (25378274)
2014
15
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. (24733542)
2014
16
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. (24511499)
2014
17
Pentalogy of Cantrell: first case reported in Saudi Arabia. (24658559)
2014
18
Successful surgical repair of pentalogy of cantrell at 14 months of age. (24906266)
2014
19
Pentalogy of Cantrell with Ectopia Cordis: CT Findings. (25926914)
2014
20
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. (25092102)
2014
21
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. (24588715)
2014
22
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. (25385246)
2014
23
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. (24995190)
2014
24
Adult survivor with repaired complete pentalogy of cantrell. (25324259)
2014
25
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. (23548235)
2013
26
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
27
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
28
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. (23979620)
2013
29
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report. (24377748)
2013
30
Pentalogy of Cantrell: embryofetoscopic diagnosis. (23465262)
2013
31
Pentalogy of cantrell: an extremely rare congenital anomaly. (24049753)
2013
32
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. (22883530)
2013
33
Pentalogy of Cantrell; complete expression in a nine-month-old-boy. (23901184)
2013
34
Prenatal diagnosis of pentalogy of Cantrell at 11-13 weeks: Evidence for a hexalogy. (23259889)
2013
35
Complete Pentalogy of Cantrell with craniorachischisis: a case report. (22905305)
2012
36
Incomplete pentalogy of Cantrell: single stage repair. (22689715)
2012
37
Repair of ectopia cordis using a resorbable poly-L-lactic-polyglycolic acid plate in a patient with pentalogy of Cantrell. (22703818)
2012
38
Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia. (22900993)
2012
39
Pentalogy of Cantrell associated with a double-outlet right ventricle. (22964340)
2012
40
Hepatic pulmonary fusion: two cases with diaphragmatic hernia and one case with Pentalogy of Cantrell. (22497683)
2012
41
Pentalogy of cantrell: surgical resection of a biventricular diverticulum. (23804881)
2012
42
Two different pentalogies in an adult patient: a pentalogy of Cantrell associated with a pentalogy of Fallot. (22514008)
2012
43
Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect. (22621721)
2012
44
Pentalogy of Cantrell demonstrated by computed tomography in an infant. (22148150)
2011
45
Incomplete pentalogy of Cantrell during first trimester of pregnancy. (21747348)
2011
46
Pentalogy of Cantrell: a case report. (21448392)
2011
47
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. (21484999)
2011
48
A variant of pentalogy of Cantrell in a live birth. (21494004)
2011
49
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. (21812640)
2011
50
Ectopia cordis with tetralogy of Fallot in an infant with pentalogy of Cantrell: high-pitch MDCT exam. (21174085)
2011

Variations for Pentalogy of Cantrell

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Expression for genes affiliated with Pentalogy of Cantrell

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

Pathways for genes affiliated with Pentalogy of Cantrell

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GO Terms for genes affiliated with Pentalogy of Cantrell

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Sources for Pentalogy of Cantrell

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet