MCID: PNT005
MIFTS: 30

Pentalogy of Cantrell malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for Pentalogy of Cantrell

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pentalogy of Cantrell, Aliases & Descriptions:

Name: Pentalogy of Cantrell 41 47 60
Thoraco-Abdominal Syndrome 41 47
Cantrell Deformity 41 47
 
Cantrell Syndrome 41 47
Cantrell Haller Ravitsch Syndrome 41
Cantrell Pentalogy 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

47
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


External Ids:

Orphanet47 1335
MESH via Orphanet34 D058502
ICD10 via Orphanet26 Q89.7
UMLS via Orphanet61 C0559483

Summaries for Pentalogy of Cantrell

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NIH Rare Diseases:41 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 craniorachischisis and tetralogy of fallot, and has symptoms including abnormality of the sternum, congenital diaphragmatic hernia and omphalocele. Affiliated tissues include heart, spleen and kidney.

Wikipedia:63 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 19)
idRelated DiseaseScoreTop Affiliating Genes
1craniorachischisis10.7
2tetralogy of fallot10.6
3exencephaly10.6
4thoracoabdominal syndrome10.5
5hypoplastic left heart syndrome10.5
6aneurysm10.5
7omphalocele10.5
8hepatitis10.3
9congenital heart disease10.3
10pericardial effusion10.3
11ventricular septal defect10.3
12colonic atresia10.3
13double outlet left ventricle10.3
14limb-body wall complex10.3
15phocomelia10.3
16sirenomelia10.3
17sternal cleft10.3
18abdominal wall defect10.3
19anencephaly10.1

Graphical network of diseases related to Pentalogy of Cantrell:



Diseases related to pentalogy of cantrell

Symptoms for Pentalogy of Cantrell

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Symptoms:

 47 (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

HPO human phenotypes related to Pentalogy of Cantrell:

(show all 23)
id Description Frequency HPO Source Accession
1 abnormality of the sternum hallmark (90%) HP:0000766
2 congenital diaphragmatic hernia hallmark (90%) HP:0000776
3 omphalocele hallmark (90%) HP:0001539
4 ventricular septal defect hallmark (90%) HP:0001629
5 abnormality of the pericardium hallmark (90%) HP:0001697
6 defect in the atrial septum typical (50%) HP:0001631
7 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
8 multicystic kidney dysplasia occasional (7.5%) HP:0000003
9 cleft palate occasional (7.5%) HP:0000175
10 hydrocephalus occasional (7.5%) HP:0000238
11 split hand occasional (7.5%) HP:0001171
12 tetralogy of fallot occasional (7.5%) HP:0001636
13 abnormality of the spleen occasional (7.5%) HP:0001743
14 talipes occasional (7.5%) HP:0001883
15 encephalocele occasional (7.5%) HP:0002084
16 anencephaly occasional (7.5%) HP:0002323
17 scoliosis occasional (7.5%) HP:0002650
18 abnormality of the tibia occasional (7.5%) HP:0002992
19 abnormality of the gallbladder occasional (7.5%) HP:0005264
20 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
21 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
22 non-midline cleft lip occasional (7.5%) HP:0100335
23 displacement of the external urethral meatus occasional (7.5%) HP:0100627

Drugs & Therapeutics for Pentalogy of Cantrell

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Drug clinical trials:

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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:

31
Heart, Spleen, Kidney, Lung, Colon

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 108)
idTitleAuthorsYear
1
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. (25802780)
2015
2
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. (25092102)
2014
3
Pentalogy of Cantrell: the complete spectrum. (25378274)
2014
4
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. (24588715)
2014
5
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. (24733542)
2014
6
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. (24511499)
2014
7
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. (25385246)
2014
8
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. (24995190)
2014
9
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. (23548235)
2013
10
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
11
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
12
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. (22883530)
2013
13
Pentalogy of Cantrell associated with a double-outlet right ventricle. (22964340)
2012
14
Complete Pentalogy of Cantrell with craniorachischisis: a case report. (22905305)
2012
15
Incomplete pentalogy of Cantrell: single stage repair. (22689715)
2012
16
Pentalogy of Cantrell demonstrated by computed tomography in an infant. (22148150)
2011
17
Pentalogy of Cantrell and supernumerary naris. (22029172)
2011
18
Incomplete pentalogy of Cantrell during first trimester of pregnancy. (21747348)
2011
19
Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease. (21210095)
2011
20
Pentalogy of Cantrell: a case report. (21448392)
2011
21
Images in cardiovascular medicine: Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. (19380628)
2009
22
Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations. (19107516)
2009
23
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. (19797031)
2009
24
Outcome of children with Pentalogy of Cantrell following cardiac surgery. (19322603)
2009
25
Pentalogy of Cantrell: a case report. (20337247)
2009
26
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. (19085750)
2008
27
Pentalogy of Cantrell : successful early correction. (17885784)
2008
28
An incomplete pentalogy of Cantrell. (18782955)
2008
29
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
30
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. (17302520)
2007
31
Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. (17638617)
2007
32
Prenatal and postnatal management of a patient with pentalogy of Cantrell and left ventricular aneurysm. A case report and literature review. (17369693)
2007
33
Diagnosis of pentalogy of cantrell in the fetus using magnetic resonance imaging and ultrasound. (17375352)
2007
34
Pentalogy of Cantrell associated with hypoplastic left heart syndrome. (17563826)
2007
35
Pentalogy of Cantrell associated with hypoplastic left heart syndrome and herniation of the ventricular mass into the abdominal cavity. (17670547)
2006
36
Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report. (16969012)
2006
37
Pentalogy of Cantrell with a double-outlet left ventricle. (15875742)
2005
38
Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. (16134161)
2005
39
Pentalogy of Cantrell: a case report with pathologic findings. (15630538)
2004
40
An infant with pentalogy of Cantrell and limb defects diagnosed prenatally. (15127772)
2004
41
Usefulness of helical CT angiography and MRI in the diagnosis and treatment of pentalogy of Cantrell. (12520261)
2003
42
Images in congenital heart disease. Partial pentalogy of Cantrell. (11922445)
2002
43
Pentalogy of Cantrell. (10771959)
1998
44
Pentalogy of Cantrell--a case report. (9505030)
1997
45
Ultrasonographic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature. (8046047)
1994
46
Combined pentalogy of Cantrell and sirenomelia: a case report with speculation about a common etiology. (8397575)
1993
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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Compounds for genes affiliated with Pentalogy of Cantrell

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GO Terms for genes affiliated with Pentalogy of Cantrell

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Products for genes affiliated with Pentalogy of Cantrell

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pentalogy of Cantrell

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet