MCID: PNT005
MIFTS: 36

Pentalogy of Cantrell malady

Rare diseases, Fetal diseases categories
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Summaries for Pentalogy of Cantrell

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NIH Rare Diseases:42 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 pentalogy, is related to craniorachischisis and double outlet right ventricle, and has symptoms including sternal/sternum anomalies, omphalocele/exomphalos and diaphragmatic hernia/defect/agenesis. An important gene associated with Pentalogy of Cantrell is THAS (thoracoabdominal syndrome). Affiliated tissues include heart, spleen and kidney.

Wikipedia:65 Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving... more...

Description from OMIM:46 313850

Aliases & Classifications for Pentalogy of Cantrell

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Sources:
42NIH Rare Diseases, 62UMLS, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Pentalogy of Cantrell, Aliases & Descriptions:

Name: Pentalogy of Cantrell 42 62
Cantrell Pentalogy 42 48 46
Thoraco-Abdominal Syndrome 42 48
Thoracoabdominal Syndrome 46 62
 
Cantrell Haller Ravitsch Syndrome 42
Cantrell Deformity 42
Cantrell Syndrome 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cantrell pentalogy:
Inheritance: Sporadic,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 313850
MESH via Orphanet35 D058502
ICD10 via Orphanet26 Q89.7
UMLS via Orphanet63 C0559483

Related Diseases for Pentalogy of Cantrell

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1craniorachischisis10.7
2double outlet right ventricle10.6
3tetralogy of fallot10.6
4exencephaly10.6
5hypoplastic left heart syndrome10.5
6aneurysm10.5
7omphalocele10.5
8hepatitis10.3
9spina bifida10.3
10congenital heart disease10.3
11pericardial effusion10.3
12ventricular septal defect10.3
13colonic atresia10.3
14double outlet left ventricle10.3
15frontonasal dysplasia10.3
16limb-body wall complex10.3
17sirenomelia10.3
18sternal cleft10.3
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 by clinical synopsis from OMIM:

313850

Clinical features from OMIM:

313850

Symptoms:

48 (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 38)
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
24 hypospadias HP:0000047
25 renal agenesis HP:0000104
26 cleft palate HP:0000175
27 cleft upper lip HP:0000204
28 hydrocephalus HP:0000238
29 cystic hygroma HP:0000476
30 congenital diaphragmatic hernia HP:0000776
31 x-linked inheritance HP:0001417
32 omphalocele HP:0001539
33 patent ductus arteriosus HP:0001643
34 transposition of the great arteries HP:0001669
35 ectopia cordis HP:0001683
36 pulmonary hypoplasia HP:0002089
37 anencephaly HP:0002323
38 ventral hernia HP:0002933

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:

32
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 106)
idTitleAuthorsYear
1
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. (25092102)
2014
2
Pentalogy of Cantrell: the complete spectrum. (25378274)
2014
3
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. (24588715)
2014
4
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. (24733542)
2014
5
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. (24511499)
2014
6
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. (25385246)
2014
7
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. (23548235)
2013
8
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
9
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
10
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. (22883530)
2013
11
Pentalogy of Cantrell associated with a double-outlet right ventricle. (22964340)
2012
12
Complete Pentalogy of Cantrell with craniorachischisis: a case report. (22905305)
2012
13
Incomplete pentalogy of Cantrell: single stage repair. (22689715)
2012
14
Pentalogy of Cantrell demonstrated by computed tomography in an infant. (22148150)
2011
15
Pentalogy of Cantrell and supernumerary naris. (22029172)
2011
16
Incomplete pentalogy of Cantrell during first trimester of pregnancy. (21747348)
2011
17
Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease. (21210095)
2011
18
Pentalogy of Cantrell: a case report. (21448392)
2011
19
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. (21484999)
2011
20
Images in cardiovascular medicine: Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. (19380628)
2009
21
Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations. (19107516)
2009
22
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. (19797031)
2009
23
Outcome of children with Pentalogy of Cantrell following cardiac surgery. (19322603)
2009
24
Pentalogy of Cantrell: a case report. (20337247)
2009
25
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. (19085750)
2008
26
Pentalogy of Cantrell : successful early correction. (17885784)
2008
27
An incomplete pentalogy of Cantrell. (18782955)
2008
28
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
29
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. (17302520)
2007
30
Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. (17638617)
2007
31
Prenatal and postnatal management of a patient with pentalogy of Cantrell and left ventricular aneurysm. A case report and literature review. (17369693)
2007
32
Diagnosis of pentalogy of cantrell in the fetus using magnetic resonance imaging and ultrasound. (17375352)
2007
33
Pentalogy of Cantrell associated with hypoplastic left heart syndrome. (17563826)
2007
34
Pentalogy of Cantrell associated with hypoplastic left heart syndrome and herniation of the ventricular mass into the abdominal cavity. (17670547)
2006
35
Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report. (16969012)
2006
36
Pentalogy of Cantrell with a double-outlet left ventricle. (15875742)
2005
37
Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. (16134161)
2005
38
Pentalogy of Cantrell: a case report with pathologic findings. (15630538)
2004
39
An infant with pentalogy of Cantrell and limb defects diagnosed prenatally. (15127772)
2004
40
Combined pentalogy of Cantrell with tetralogy of Fallot, gallbladder agenesis, and polysplenia: a case report. (14694384)
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
  • Proteins
  • Lysates

Sources for Pentalogy of Cantrell

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet