MCID: PNT005
MIFTS: 31

Pentalogy of Cantrell malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Pentalogy of Cantrell

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pentalogy of Cantrell:

Name: Pentalogy of Cantrell 45 51 65
Thoraco-Abdominal Syndrome 45 51
Cantrell Deformity 45 51
 
Cantrell Syndrome 45 51
Cantrell Haller Ravitsch Syndrome 45
Cantrell Pentalogy 45

Characteristics:

Orphanet epidemiological data:

51
pentalogy of cantrell:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age,embryofetal,infantile,stillbirth

Classifications:



External Ids:

Orphanet51 1335
ICD10 via Orphanet28 Q89.7
MESH via Orphanet37 D058502
UMLS via Orphanet66 C0559483
UMLS65 C0559483

Summaries for Pentalogy of Cantrell

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NIH Rare Diseases:45 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 thoraco-abdominal syndrome, is related to thoracoabdominal syndrome and sternal cleft, and has symptoms including sternal/sternum anomalies, omphalocele/exomphalos and diaphragmatic hernia/defect/agenesis. Affiliated tissues include heart, kidney and spleen.

Wikipedia:68 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 22)
idRelated DiseaseScoreTop Affiliating Genes
1thoracoabdominal syndrome11.6
2sternal cleft10.7
3ectopia cordis10.5
4craniorachischisis10.4
5tetralogy of fallot10.3
6exencephaly10.3
7hypoplastic left heart syndrome10.2
8omphalocele10.2
9aneurysm10.2
10abdominal wall defect10.1
11hepatitis10.0
12scoliosis10.0
13heart disease10.0
14pericardial effusion10.0
15ventricular septal defect10.0
16congenital heart disease10.0
17colonic atresia10.0
18double outlet left ventricle10.0
19limb-body wall complex10.0
20phocomelia10.0
21sirenomelia10.0
22anencephaly9.8

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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Symptoms:

 51 (show all 27)
  • sternal/sternum anomalies
  • omphalocele/exomphalos
  • diaphragmatic hernia/defect/agenesis
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • atrial septal defect/interauricular communication
  • stillbirth/neonatal death
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft lip and palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • scoliosis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • oligodactyly/ectrodactyly of fingers
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • talipes-varus/metatarsal varus
  • gallbladder/common bile duct anomalies
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • tetralogy of fallot/trilogy of fallot
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • hypospadias/epispadias/bent penis
  • anencephaly/acrania
  • encephalocele/exencephaly
  • hydrocephaly
  • conjoined twinning

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
Pentobarbitalapproved1076-74-44737
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 Sodium
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:

33
Heart, Kidney, Spleen, Lung, Prostate, Colon, Testes

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 120)
idTitleAuthorsYear
1
Bipolar cord coagulation for selective feticide in a monochorionic twin pregnancy complicated by pentalogy of Cantrell. (26927267)
2016
2
Incomplete Pentalogy of Cantrell - A Case Report. (26931266)
2016
3
PENTALOGY OF CANTRELL IN TWINS: A CASE REPORT. (26939309)
2015
4
Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy. (26421202)
2015
5
5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. (25959837)
2015
6
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. (25802780)
2015
7
Pentalogy of Cantrell with Ectopia Cordis: CT Findings. (25926914)
2014
8
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. (25092102)
2014
9
Pentalogy of Cantrell: the complete spectrum. (25378274)
2014
10
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. (24588715)
2014
11
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. (24733542)
2014
12
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. (24511499)
2014
13
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. (25385246)
2014
14
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. (24995190)
2014
15
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. (23548235)
2013
16
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
17
Pentalogy of Cantrell associated with a double-outlet right ventricle. (22964340)
2012
18
Complete Pentalogy of Cantrell with craniorachischisis: a case report. (22905305)
2012
19
Pentalogy of Cantrell demonstrated by computed tomography in an infant. (22148150)
2011
20
Pentalogy of Cantrell and supernumerary naris. (22029172)
2011
21
Incomplete pentalogy of Cantrell during first trimester of pregnancy. (21747348)
2011
22
Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease. (21210095)
2011
23
Pentalogy of Cantrell: a case report. (21448392)
2011
24
Images in cardiovascular medicine: Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. (19380628)
2009
25
Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations. (19107516)
2009
26
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. (19797031)
2009
27
Outcome of children with Pentalogy of Cantrell following cardiac surgery. (19322603)
2009
28
Pentalogy of Cantrell: a case report. (20337247)
2009
29
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. (19085750)
2008
30
Pentalogy of Cantrell : successful early correction. (17885784)
2008
31
An incomplete pentalogy of Cantrell. (18782955)
2008
32
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
33
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. (17302520)
2007
34
Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. (17638617)
2007
35
Prenatal and postnatal management of a patient with pentalogy of Cantrell and left ventricular aneurysm. A case report and literature review. (17369693)
2007
36
Diagnosis of pentalogy of cantrell in the fetus using magnetic resonance imaging and ultrasound. (17375352)
2007
37
Pentalogy of Cantrell associated with hypoplastic left heart syndrome. (17563826)
2007
38
Pentalogy of Cantrell associated with hypoplastic left heart syndrome and herniation of the ventricular mass into the abdominal cavity. (17670547)
2006
39
Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report. (16969012)
2006
40
Pentalogy of Cantrell with a double-outlet left ventricle. (15875742)
2005
41
Pentalogy of Cantrell: a case report with pathologic findings. (15630538)
2004
42
Usefulness of helical CT angiography and MRI in the diagnosis and treatment of pentalogy of Cantrell. (12520261)
2003
43
Images in congenital heart disease. Partial pentalogy of Cantrell. (11922445)
2002
44
Pentalogy of Cantrell. (10771959)
1998
45
Pentalogy of Cantrell--a case report. (9505030)
1997
46
Ultrasonographic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature. (8046047)
1994
47
Combined pentalogy of Cantrell and sirenomelia: a case report with speculation about a common etiology. (8397575)
1993
48
Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. (1554024)
1992
49
Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. (1308371)
1992
50

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet