MCID: PNT005
MIFTS: 22

Pentalogy of Cantrell malady

Fetal category

Summaries for Pentalogy of Cantrell

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 cant� syndrome, and has symptoms including scoliosis, hydrocephaly and gallbladder/common bile duct anomalies. Affiliated tissues include lung and heart.

Wikipedia:64 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

Sources:
43NIH Rare Diseases, 61UMLS, 49Orphanet, 47OMIM, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


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 61
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 Orphanet58 281587000
UMLS via Orphanet62 C0559483
OMIM47 313850
MESH via Orphanet36 D058502
ICD10 via Orphanet26 Q89.7

Related Diseases for Pentalogy of Cantrell

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 16)
idRelated DiseaseScoreTop Affiliating Genes
1craniorachischisis10.6
2cant� syndrome10.6
3exencephaly10.5
4hypoplastic left heart syndrome10.4
5omphalocele10.4
6spina bifida10.3
7ventricular septal defect10.3
8limb-body wall complex10.3
9colonic atresia10.3
10double outlet left ventricle10.3
11fetal left ventricular aneurysm10.3
12frontonasal dysplasia10.3
13sirenomelia10.3
14mass syndrome10.3
15thoracoabdominal syndrome10.3
16anencephaly10.0

Graphical network of diseases related to Pentalogy of Cantrell:



Diseases related to pentalogy of cantrell

Clinical Features for Pentalogy of Cantrell

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

313850

Clinical synopsis from OMIM:

313850

Symptoms:

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

Drugs & Therapeutics for Pentalogy of Cantrell

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Pentalogy of Cantrell

Anatomical Context for Pentalogy of Cantrell

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

33
Lung, Heart

Animal Models for Pentalogy of Cantrell or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pentalogy of Cantrell

Genetic Variations for Pentalogy of Cantrell

Expression for genes affiliated with Pentalogy of Cantrell

Sources:
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

Compounds for genes affiliated with Pentalogy of Cantrell

GO Terms for genes affiliated with Pentalogy of Cantrell

Products for genes affiliated with Pentalogy of Cantrell

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  • Lysates
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Sources for Pentalogy of Cantrell

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet