MCID: PNT005
MIFTS: 22

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 46 66
Cantrell Haller Ravitsch Syndrome 46
Thoraco-Abdominal Syndrome 46
 
Cantrell Pentalogy 46
Cantrell Deformity 46
Cantrell Syndrome 46

Classifications:



Summaries for Pentalogy of Cantrell

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NIH Rare Diseases:46 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:69 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 21)
idRelated DiseaseScoreTop Affiliating Genes
1thoracoabdominal syndrome11.7
2sternal cleft10.8
3ectopia cordis10.5
4craniorachischisis10.4
5tetralogy of fallot10.3
6exencephaly10.3
7hypoplastic left heart syndrome10.2
8omphalocele10.2
9aneurysm10.2
10colonic atresia10.0
11oeis complex10.0
12hepatitis10.0
13scoliosis10.0
14heart disease10.0
15pericardial effusion10.0
16ventricular septal defect10.0
17congenital heart disease10.0
18limb-body wall complex10.0
19double outlet left ventricle10.0
20sirenomelia10.0
21phocomelia10.0

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



Diseases related to pentalogy of cantrell

Symptoms 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
Pentobarbital1076-74-44737
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 Cantrell or Non-Muscle Myosin II SyndromesRecruitingNCT00083499
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:

34
Heart, Lung, Colon, Kidney

Animal Models for Pentalogy of Cantrell or affiliated genes

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Publications for Pentalogy of Cantrell

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Articles related to Pentalogy of Cantrell:

(show top 50)    (show all 121)
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
Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy. (26421202)
2015
4
5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. (25959837)
2015
5
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. (25802780)
2015
6
Pentalogy of Cantrell: Case Report With Review of the Literature. (26225594)
2015
7
Class II pentalogy of Cantrell. (26219662)
2015
8
Pentalogy of Cantrell: the complete spectrum. (25378274)
2014
9
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. (24733542)
2014
10
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. (24511499)
2014
11
Pentalogy of Cantrell: first case reported in Saudi Arabia. (24658559)
2014
12
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. (23548235)
2013
13
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
14
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
15
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. (23979620)
2013
16
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report. (24377748)
2013
17
Complete Pentalogy of Cantrell with craniorachischisis: a case report. (22905305)
2012
18
Incomplete pentalogy of Cantrell: single stage repair. (22689715)
2012
19
Pentalogy of Cantrell demonstrated by computed tomography in an infant. (22148150)
2011
20
Incomplete pentalogy of Cantrell during first trimester of pregnancy. (21747348)
2011
21
Pentalogy of Cantrell: a case report. (21448392)
2011
22
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. (21484999)
2011
23
A variant of pentalogy of Cantrell in a live birth. (21494004)
2011
24
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. (21812640)
2011
25
Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: the role of three-dimensional sonography? (20607852)
2010
26
Images in cardiovascular medicine: Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. (19380628)
2009
27
Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations. (19107516)
2009
28
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. (19797031)
2009
29
Outcome of children with Pentalogy of Cantrell following cardiac surgery. (19322603)
2009
30
Pentalogy of Cantrell: a case report. (20337247)
2009
31
Pentalogy of Cantrell vs. limb body wall complex: differential diagnosis of a severe malformation in early pregnancy. (19998210)
2009
32
Pentalogy of Cantrell: reviewing the syndrome with a case report and nursing implications. (19474591)
2009
33
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. (19085750)
2008
34
Pentalogy of Cantrell : successful early correction. (17885784)
2008
35
Definition of pentalogy of Cantrell. Commentary on Araujo JA_nior et al: diagnosis of pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregancy (Fetal Diagn Ther 2006;21:544-547). (18046078)
2008
36
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. (17302520)
2007
37
Prenatal and postnatal management of a patient with pentalogy of Cantrell and left ventricular aneurysm. A case report and literature review. (17369693)
2007
38
Pentalogy of Cantrell associated with hypoplastic left heart syndrome. (17563826)
2007
39
Pentalogy of Cantrell with a double-outlet left ventricle. (15875742)
2005
40
Combined pentalogy of Cantrell with tetralogy of Fallot, gallbladder agenesis, and polysplenia: a case report. (14694384)
2004
41
Two rare cases of the Pentalogy of Cantrell or its variants. (15515484)
2004
42
Prenatal diagnosis of pentalogy of Cantrell: a case report. (15266772)
2004
43
Pentalogy of Cantrell--a case report. (9505030)
1997
44
Pentalogy of Cantrell: detection through fetal board registry and fetal pathology. (9125328)
1996
45
Omphalocele and pericardial effusion: possible sonographic markers for the pentalogy of Cantrell or its variants. (8677109)
1996
46
Pentalogy of Cantrell vs pentalogy of Fallot. (7787464)
1995
47
Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. (1554024)
1992
48
Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. (1308371)
1992
49
Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia. (1442903)
1992
50
Prenatal diagnosis of pentalogy of Cantrell. (3066921)
1988

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet