MCID: PNT005
MIFTS: 30

Pentalogy of Cantrell malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Pentalogy of Cantrell

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pentalogy of Cantrell:

Name: Pentalogy of Cantrell 45 51 65
Thoraco-Abdominal Syndrome 45 51
Cantrell Deformity 45 51
 
Cantrell Syndrome 45 51
Cantrell Haller Ravitsch Syndrome 45
Cantrell Pentalogy 45

Characteristics:

Orphanet epidemiological data:

51
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

Classifications:



External Ids:

Orphanet51 1335
ICD10 via Orphanet28 Q89.7
MESH via Orphanet37 D058502
UMLS via Orphanet66 C0559483
UMLS65 C0559483

Summaries for Pentalogy of Cantrell

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NIH Rare Diseases:45 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 thoracoabdominal syndrome and sternal cleft, and has symptoms including sternal/sternum anomalies, omphalocele/exomphalos and diaphragmatic hernia/defect/agenesis. Affiliated tissues include heart, kidney and spleen.

Wikipedia:68 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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Graphical network of the top 20 diseases related to Pentalogy of Cantrell:



Diseases related to pentalogy of cantrell

Symptoms for Pentalogy of Cantrell

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Symptoms:

 51 (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

Drugs & Therapeutics for Pentalogy of Cantrell

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Drugs for Pentalogy of Cantrell (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pentobarbitalapproved1076-74-44737
Synonyms:
(+-)-5-Ethyl-5-(1-methylbutyl)barbituric acid
5-24-09-00168 (Beilstein Handbook Reference)
5-Ethyl-5-(1-methyl-butyl)-pyrimidine-2,4,6-trione
5-Ethyl-5-(1-methylbutyl)-2,4,6(1H,3H,5H)-pyrimidinetrione
5-Ethyl-5-(1-methylbutyl)barbituric acid
5-Ethyl-5-(1-methylbutyl)malonylurea
5-Ethyl-5-(sec-pentyl)barbituric acid
5-ethyl-2-hydroxy-5-(1-methylbutyl)pyrimidine-4,6(1H,5H)-dione
5-ethyl-5-(1-methylbutyl)barbituric acid
5-ethyl-5-(pentan-2-yl)pyrimidine-2,4,6(1H,3H,5H)-trione
5-ethyl-5-(sec-pentyl)barbituric acid
5-ethyl-5-pentan-2-yl-1,3-diazinane-2,4,6-trione
57-33-0 (mono-hydrochloride salt)
76-74-4
AC1L1IUE
AC1Q2UJM
AKOS000277861
Aethaminalum
BRN 0087067
BSPBio_003305
C07422
CCRIS 7089
CHEBI:7983
CHEMBL448
CID4737
D00499
DB00312
DEA No. 2270
DivK1c_000992
Dorsital
EINECS 200-983-8
Etaminal
Ethaminal
Ethyl-propylmethylcarbinylbarbituric acid
HMS2094E21
HMS503G05
HSDB 3151
IDI1_000992
KBio1_000992
KBio2_002266
KBio2_004834
KBio2_007402
KBio3_002807
KBioGR_001008
KBioSS_002267
LS-24385
 
Mebubarbital
Mebumal
MolPort-001-785-697
MolPort-003-666-760
NCGC00096074-01
NCGC00096074-02
NINDS_000992
NSC 28708
NSC28708
Nebralin
Nembutal
Nembutal (TN)
Nembutal (VAN)
Neodorm
Neodorm (VAN)
Neodorm (new)
Oprea1_143902
Oprea1_775730
Pentabarbital
Pentabarbitone
Pentobarbital
Pentobarbital (USP/INN)
Pentobarbital (VAN)
Pentobarbital Sodium
Pentobarbital [USP:INN]
Pentobarbital calcium
Pentobarbital suppository dosage form
Pentobarbital, Monosodium Salt
Pentobarbitale
Pentobarbitale [DCIT]
Pentobarbitalum
Pentobarbitalum [INN-Latin]
Pentobarbitone
Pentobarbitone (VAN)
Pentobarbiturate
Pentobarbituric acid
Rivadorm
SPBio_002201
SPECTRUM1900006
Sodium Pentobarbital
Spectrum2_001991
Spectrum3_001783
Spectrum4_000574
Spectrum5_001705
Spectrum_001783
UNII-I4744080IR
WLN: T6VMVMV FHJ FY3&1 F2
pentobarbital

Interventional clinical trials:

idNameStatusNCT IDPhase
1dbGaP Protocol: Genetic Variants Associated With Pentalogy of CantrellCompletedNCT02430376
2Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II SyndromesRecruitingNCT00083499
3Genes Mutation Pentalogy of CantrellWithdrawnNCT00477932

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:

33
Heart, Kidney, Spleen, Lung, Breast, Bone, Testes

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 115)
idTitleAuthorsYear
1
Clinical features and treatment of hypertriglyceridemia-induced acute pancreatitis during pregnancy: A retrospective study. (26946248)
2016
2
Infective Endocarditis due to Abiotrophia defectiva and Granulicatella sp. complicated by Infectious Intracranial Cerebral Aneurysms: A Report of 3 Cases and Review of the Literature. (27046228)
2016
3
Regulatory Tweak/Fn14 signaling pathway as a potent target for controlling bone loss. (25776497)
2015
4
AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level. (24938362)
2014
5
Characteristics of responders and non-responders to risperidone monotherapy or placebo in co-occurring bipolar disorder and anxiety disorder. (22130178)
2013
6
BAK activation is necessary and sufficient to drive ceramide synthase-dependent ceramide accumulation following inhibition of BCL2-like proteins. (23480852)
2013
7
TLR-mediated distinct IFN-I^/IL-10 pattern induces protective immunity against murine visceral leishmaniasis. (22622993)
2012
8
MEK1/2 inhibitor selumetinib (AZD6244) inhibits growth of ovarian clear cell carcinoma in a PEA-15-dependent manner in a mouse xenograft model. (22144664)
2012
9
Silencing USP22 by asymmetric structure of interfering RNA inhibits proliferation and induces cell cycle arrest in bladder cancer cells. (20824490)
2011
10
Inhibition of the histone demethylase JMJD2E by 3-substituted pyridine 2,4-dicarboxylates. (21076780)
2011
11
A prospective study of cognitive complaints in patients with testicular cancer. (21729683)
2011
12
Regulation of the histone H4 monomethylase PR-Set7 by CRL4(Cdt2)-mediated PCNA-dependent degradation during DNA damage. (21035370)
2010
13
Gastric dilatation-volvulus in a guinea pig (Cavia porcellus). (20439940)
2010
14
Phase II study of protracted daily temozolomide for low-grade gliomas in adults. (19118062)
2009
15
Crosstalk between coagulation and inflammation in mastitis and metritis in dairy cows. (19584041)
2009
16
Gastric slow waves, gastrointestinal symptoms and peptides in systemic sclerosis patients. (19566588)
2009
17
Efficacy of SPK-843, a novel polyene antifungal, in a murine model of systemic cryptococcosis. (18299408)
2008
18
A signal network involving coactivated NF-kappaB and STAT3 and altered p53 modulates BAX/BCL-XL expression and promotes cell survival of head and neck squamous cell carcinomas. (18172861)
2008
19
Q fever in young children, Ghana. (18258140)
2008
20
Reopening of previously closed macular holes after cataract extraction. (17543876)
2007
21
Leucine zipper-like domain is required for tumor suppressor ING2-mediated nucleotide excision repair and apoptosis. (16782091)
2006
22
Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms: a preliminary study. (17138053)
2006
23
Faster activation of polymorphonuclear neutrophils in resistant mice during early innate response to Pseudomonas aeruginosa lung infection. (15320896)
2004
24
SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes. (15240568)
2004
25
TAFII70 isoform-specific growth suppression correlates with its ability to complex with the GADD45a protein. (15328371)
2004
26
Effects of novel safrole oxide derivatives, 1-propyl-3-(3,4-methylenedioxyphenyl)-2-propanol and 1-isopropoxy-3-(3,4-methylenedioxyphenyl)-2-propanol, on apoptosis induced by deprivation of survival factors in vascular endothelial cells. (15763947)
2004
27
Re: oral myiasis. (14614880)
2003
28
Conserved enzymatic production and biological effect of O-acetyl-ADP- ribose by silent information regulator 2-like NAD+-dependent deacetylases. (11812793)
2002
29
Sequencing of a calcitonin receptor-like receptor in salmon Oncorhynchus gorbuscha. Functional studies using the human receptor activity-modifying proteins. (12426108)
2002
30
Subcellular redistribution of Pit-2 P(i) transporter/amphotropic leukemia virus (A-MuLV) receptor in A-MuLV-infected NIH 3T3 fibroblasts: involvement in superinfection interference. (10684301)
2000
31
Comparison of progenitor cell collection on day 4 or day 5 after steady-state stimulation with G-CSF alone in breast cancer patients: influence on CD34+ cell yield, subpopulation, and breast cancer cell contamination. (10738979)
2000
32
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13. (10441346)
1999
33
Purification and characterization of the active-site-mutated recombinant human mu-calpain expressed in baculovirus-infected insect cells. (9618272)
1998
34
Abnormal proinsulin levels in thyroid dysfunction measured by a sensitive proinsulin immunochemiluminoassay. (9558446)
1998
35
Linitis plastica of the colon in ulcerative colitis. (9298379)
1997
36
Roles of DT diaphorase in the genotoxicity of nitroaromatic compounds in human and fish cell lines. (9310146)
1997
37
Tandem repeats 3' of the IGHA genes in the human immunoglobulin heavy chain gene cluster. (8661120)
1996
38
A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. (8630239)
1996
39
Mast cells in bronchiolitis obliterans organizing pneumonia. Mast cell hyperplasia and evidence for extracellular release of tryptase. (8697838)
1996
40
Congenital fructose-glucose-galactose malabsorption. (8576823)
1995
41
Interaction of intravenous heparin and organic nitrates in acute ischemic syndromes. (7572630)
1995
42
Iniencephaly and other neural tube defects in a litter of ferrets (Mustela putorius furo). (8203094)
1994
43
Interaction of antiandrogen-androgen receptor complexes with DNA and transcription activation. (8274404)
1993
44
3H]acetazolamide binding to carbonic anhydrase in normal and transformed cells. (1901209)
1991
45
Pathogenesis of liver disease in alpha 1-antitrypsin deficiency]. (2092568)
1990
46
Miliary tuberculosis in children. A clinical review. (2077467)
1990
47
Ophthalmomyiasis interna causing visual loss. (6720840)
1984
48
Principles of management of cor pulmonale. (5506135)
1970
49
E.E.G. studies in the syndrome of isolated episodes of confusion with amnesia "transient global amnesia". (5926469)
1966
50

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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GO Terms for genes affiliated with Pentalogy of Cantrell

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Sources for Pentalogy of Cantrell

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet