MCID: PNT005
MIFTS: 24

Pentalogy of Cantrell malady

Fetal diseases category

Summaries for Pentalogy of Cantrell

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 tetralogy of fallot and double outlet right ventricle, and has symptoms including gallbladder/common bile duct anomalies, asplenia/polysplenia/spleen lobulation/accessory spleen and tetralogy of fallot/trilogy of fallot. Affiliated tissues include heart, lung and kidney.

Wikipedia:63 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, 60UMLS, 48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

pentalogy of cantrell 42 60
cantrell pentalogy 42 48 46
cantrell haller ravitsch syndrome 42
thoraco-abdominal syndrome 48
cantrell deformity 42
cantrell syndrome 42


External Ids:

SNOMED-CT via Orphanet57 281587000
UMLS via Orphanet61 C0559483
OMIM46 313850
MESH via Orphanet35 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:

idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot10.6
2double outlet right ventricle10.5
3hypoplastic left heart syndrome10.5
4hepatitis10.3
5pericardial effusion10.3
6spina bifida10.3
7ventricular septal defect10.3
8thoracoabdominal syndrome10.3

Graphical network of diseases related to Pentalogy of Cantrell:



Diseases related to pentalogy of cantrell

Clinical Features for Pentalogy of Cantrell

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46OMIM, 48Orphanet
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Clinical features from OMIM:

313850

Clinical synopsis from OMIM:

313850

Symptoms:

48 (show all 27)
  • 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
  • talipes-varus/metatarsal varus
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • oligodactyly/ectrodactyly of fingers
  • 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
  • sternal/sternum anomalies

Drugs & Therapeutics for Pentalogy of Cantrell

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pentalogy of Cantrell

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Anatomical Context for Pentalogy of Cantrell

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32MalaCards
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MalaCards organs/tissues related to Pentalogy of Cantrell:

32
Heart, Lung, Kidney, Spleen

Animal Models for Pentalogy of Cantrell or affiliated genes

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Publications for Pentalogy of Cantrell

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Genetic Variations for Pentalogy of Cantrell

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Expression for genes affiliated with Pentalogy of Cantrell

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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

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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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  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet