MCID: PNT005
MIFTS: 26

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, and has symptoms including hypospadias, renal agenesis and renal dysplasia. 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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Human phenotypes related to Pentalogy of Cantrell:

 64 (show all 23)
id Description HPO Frequency HPO Source Accession
1 hypospadias64 HP:0000047
2 renal agenesis64 HP:0000104
3 renal dysplasia64 HP:0000110
4 cleft palate64 HP:0000175
5 hydrocephalus64 HP:0000238
6 abnormality of the sternum64 HP:0000766
7 congenital diaphragmatic hernia64 HP:0000776
8 split hand64 HP:0001171
9 omphalocele64 HP:0001539
10 ventricular septal defect64 HP:0001629
11 atrial septal defect64 HP:0001631
12 tetralogy of fallot64 HP:0001636
13 abnormality of the pericardium64 HP:0001697
14 polysplenia64 HP:0001748
15 talipes64 HP:0001883
16 encephalocele64 HP:0002084
17 pulmonary hypoplasia64 HP:0002089
18 anencephaly64 HP:0002323
19 scoliosis64 HP:0002650
20 abnormality of the tibia64 HP:0002992
21 aplasia/hypoplasia of the radius64 HP:0006501
22 absent gallbladder64 HP:0011467
23 non-midline cleft lip64 HP:0100335

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_approved1176-74-44737
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
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

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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