MCID: PNT005
MIFTS: 34

Pentalogy of Cantrell malady

Rare diseases, Fetal diseases categories
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Summaries for Pentalogy of Cantrell

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Pentalogy of cantrell is a condition in which a person typically has two or three of the following birth defects, with very few people having all five findings: (1) a deficiency of the front part of the diaphragm (the thin layer of muscle underneath the lungs involved in breathing); (2) a defect of the middle part of the abdomen above the belly button; (3) a defect in the pericardium (the outer layer) of the diaphragm; (4) various congenital (present at birth) heart abnormalities; and (5) a defect of the lower part of the sternum (breastbone). the condition is believed to be caused by a failure in development that occurs when the fetus is about 14-18 days old. treatment is based on the symptoms present in the person. last updated: 5/27/2009

MalaCards: Pentalogy of Cantrell, also known as cantrell pentalogy, is related to craniorachischisis and tetralogy of fallot, and has symptoms including agenesis/hypoplasia/aplasia of kidneys, tetralogy of fallot/trilogy of fallot and asplenia/polysplenia/spleen lobulation/accessory spleen. Affiliated tissues include heart, lung and kidney.

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

Description from OMIM:47 313850

Aliases & Classifications for Pentalogy of Cantrell

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Sources:
43NIH Rare Diseases, 62UMLS, 49Orphanet, 47OMIM, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cantrell pentalogy:
Inheritance: Sporadic,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pentalogy of cantrell 43 62
cantrell pentalogy 43 49 47
cantrell haller ravitsch syndrome 43
thoraco-abdominal syndrome 49
cantrell deformity 43
cantrell syndrome 43


External Ids:

SNOMED-CT via Orphanet59 281587000
UMLS via Orphanet63 C0559483
OMIM47 313850
MESH via Orphanet36 D058502
ICD10 via Orphanet26 Q89.7

Related Diseases for Pentalogy of Cantrell

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Sources:
17GeneCards, 18GeneDecks
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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
2tetralogy of fallot10.6
3double outlet right ventricle10.6
4exencephaly10.6
5aneurysm10.5
6omphalocele10.5
7hypoplastic left heart syndrome10.3
8congenital heart disease10.3
9hepatitis10.3
10pericardial effusion10.3
11spina bifida10.3
12ventricular septal defect10.3
13colonic atresia10.3
14double outlet left ventricle10.3
15frontonasal dysplasia10.3
16limb-body wall complex10.3
17sirenomelia10.3
18thoracoabdominal syndrome10.3
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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

313850

Clinical features from OMIM:

313850

Symptoms:

49 (show all 27)
  • agenesis/hypoplasia/aplasia of kidneys
  • tetralogy of fallot/trilogy of fallot
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • gallbladder/common bile duct anomalies
  • multicystic kidney/renal dysplasia
  • hypospadias/epispadias/bent penis
  • anencephaly/acrania
  • encephalocele/exencephaly
  • hydrocephaly
  • conjoined twinning
  • talipes-varus/metatarsal varus
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • 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
  • sternal/sternum anomalies

Drugs & Therapeutics for Pentalogy of Cantrell

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pentalogy of Cantrell

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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33MalaCards
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MalaCards organs/tissues related to Pentalogy of Cantrell:

33
Heart, Lung, Kidney, Spleen, Colon

Animal Models for Pentalogy of Cantrell or affiliated genes

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Publications for Pentalogy of Cantrell

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52PubMed
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Articles related to Pentalogy of Cantrell:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound. (23548235)
2013
2
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
3
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
4
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. (22883530)
2013
5
Pentalogy of Cantrell; complete expression in a nine-month-old-boy. (23901184)
2013
6
Pentalogy of Cantrell associated with a double-outlet right ventricle. (22964340)
2012
7
Complete Pentalogy of Cantrell with craniorachischisis: a case report. (22905305)
2012
8
Incomplete pentalogy of Cantrell: single stage repair. (22689715)
2012
9
Pentalogy of Cantrell demonstrated by computed tomography in an infant. (22148150)
2011
10
Pentalogy of Cantrell and supernumerary naris. (22029172)
2011
11
Incomplete pentalogy of Cantrell during first trimester of pregnancy. (21747348)
2011
12
Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease. (21210095)
2011
13
Pentalogy of Cantrell: a case report. (21448392)
2011
14
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. (21484999)
2011
15
A variant of pentalogy of Cantrell in a live birth. (21494004)
2011
16
Pentalogy of Cantrell associated with bilateral anophthalmos. (20717008)
2010
17
Images in cardiovascular medicine: Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. (19380628)
2009
18
Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations. (19107516)
2009
19
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. (19797031)
2009
20
Outcome of children with Pentalogy of Cantrell following cardiac surgery. (19322603)
2009
21
Pentalogy of Cantrell: a case report. (20337247)
2009
22
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. (19085750)
2008
23
Pentalogy of Cantrell : successful early correction. (17885784)
2008
24
An incomplete pentalogy of Cantrell. (18782955)
2008
25
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
26
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. (17302520)
2007
27
Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. (17638617)
2007
28
Prenatal and postnatal management of a patient with pentalogy of Cantrell and left ventricular aneurysm. A case report and literature review. (17369693)
2007
29
Diagnosis of pentalogy of cantrell in the fetus using magnetic resonance imaging and ultrasound. (17375352)
2007
30
Prenatal diagnosis of a case of pentalogy of Cantrell with spina bifida. (17495387)
2007
31
Pentalogy of Cantrell associated with hypoplastic left heart syndrome and herniation of the ventricular mass into the abdominal cavity. (17670547)
2006
32
Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report. (16969012)
2006
33
Pentalogy of Cantrell with a double-outlet left ventricle. (15875742)
2005
34
Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. (16134161)
2005
35
Pentalogy of Cantrell: a case report with pathologic findings. (15630538)
2004
36
An infant with pentalogy of Cantrell and limb defects diagnosed prenatally. (15127772)
2004
37
Combined pentalogy of Cantrell with tetralogy of Fallot, gallbladder agenesis, and polysplenia: a case report. (14694384)
2004
38
Two rare cases of the Pentalogy of Cantrell or its variants. (15515484)
2004
39
Prenatal diagnosis of pentalogy of Cantrell: a case report. (15266772)
2004
40
Usefulness of helical CT angiography and MRI in the diagnosis and treatment of pentalogy of Cantrell. (12520261)
2003
41
Images in congenital heart disease. Partial pentalogy of Cantrell. (11922445)
2002
42
Pentalogy of Cantrell. (10771959)
1998
43
Pentalogy of Cantrell--a case report. (9505030)
1997
44
Pentalogy of Cantrell: detection through fetal board registry and fetal pathology. (9125328)
1996
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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15Gene Expression Omnibus DataSets
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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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Sources for Pentalogy of Cantrell

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet