THAS
MCID: THR017
MIFTS: 37

Thoracoabdominal Syndrome (THAS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Thoracoabdominal Syndrome

MalaCards integrated aliases for Thoracoabdominal Syndrome:

Name: Thoracoabdominal Syndrome 58 13
Pentalogy of Cantrell 60 74
Thoraco-Abdominal Syndrome 60
Cantrell Deformity 60
Cantrell Syndrome 60
Thas 58
Tas 58

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
x-linked


HPO:

33
thoracoabdominal syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 313850
MESH via Orphanet 46 D058502
ICD10 via Orphanet 35 Q89.7
UMLS via Orphanet 75 C0559483
Orphanet 60 ORPHA1335
MedGen 43 C0559483
UMLS 74 C0559483

Summaries for Thoracoabdominal Syndrome

MalaCards based summary : Thoracoabdominal Syndrome, also known as pentalogy of cantrell, is related to pentalogy of cantrell and sternal cleft. An important gene associated with Thoracoabdominal Syndrome is THAS (Thoracoabdominal Syndrome). Affiliated tissues include thyroid, colon and neutrophil, and related phenotypes are hydrocephalus and cleft palate

Wikipedia : 77 Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving... more...

Description from OMIM: 313850

Related Diseases for Thoracoabdominal Syndrome

Diseases related to Thoracoabdominal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 pentalogy of cantrell 12.9
2 sternal cleft 11.7
3 takayasu arteritis 11.5
4 tricuspid atresia 11.5
5 pancreatic serous cystadenocarcinoma 11.2
6 cone-rod dystrophy and hearing loss 2 11.1
7 ectopia cordis 10.7
8 craniorachischisis 10.5
9 double outlet right ventricle 10.5
10 tetralogy of fallot 10.5
11 omphalocele 10.4
12 exencephaly 10.4
13 gilbert syndrome 10.3
14 hypoplastic left heart syndrome 1 10.3
15 oeis complex 10.3
16 hypoplastic left heart syndrome 10.3
17 bladder cancer 10.3
18 osteonecrosis 10.3
19 transitional cell carcinoma 10.2
20 bladder urothelial carcinoma 10.2
21 frontonasal dysplasia 1 10.2
22 neural tube defects 10.2
23 split-hand/foot malformation 1 10.2
24 colonic atresia 10.2
25 fryns microphthalmia syndrome 10.2
26 single ventricular heart 10.2
27 scoliosis 10.2
28 myelomeningocele 10.2
29 tethered spinal cord syndrome 10.2
30 heart disease 10.2
31 hemopericardium 10.2
32 pericardial effusion 10.2
33 ventricular septal defect 10.2
34 double outlet left ventricle 10.2
35 encephalocele 10.2
36 limb-body wall complex 10.2
37 phocomelia 10.2
38 sirenomelia 10.2
39 frontal encephalocele 10.2
40 isolated split hand-split foot malformation 10.2
41 papillary carcinoma 10.1
42 in situ carcinoma 10.1
43 breast cancer 10.1
44 prostate cancer 10.1
45 retinoblastoma 10.1
46 prostate cancer, hereditary, 8 10.1
47 prostate cancer, hereditary, 6 10.1
48 cervical intraepithelial neoplasia 10.1
49 protrusio acetabuli 10.0
50 body mass index quantitative trait locus 1 10.0

Graphical network of the top 20 diseases related to Thoracoabdominal Syndrome:



Diseases related to Thoracoabdominal Syndrome

Symptoms & Phenotypes for Thoracoabdominal Syndrome

Human phenotypes related to Thoracoabdominal Syndrome:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 60 33 Occasional (29-5%) HP:0000238
2 cleft palate 60 33 Occasional (29-5%) HP:0000175
3 hypospadias 60 33 Occasional (29-5%) HP:0000047
4 anencephaly 60 33 Occasional (29-5%) HP:0002323
5 congenital diaphragmatic hernia 60 33 Very frequent (99-80%) HP:0000776
6 omphalocele 60 33 Very frequent (99-80%) HP:0001539
7 pulmonary hypoplasia 60 33 Frequent (79-30%) HP:0002089
8 renal agenesis 60 33 Occasional (29-5%) HP:0000104
9 scoliosis 60 Occasional (29-5%)
10 malformation of the heart and great vessels 60 Very frequent (99-80%)
11 patent ductus arteriosus 33 HP:0001643
12 cystic hygroma 33 HP:0000476
13 atrial septal defect 60 Frequent (79-30%)
14 non-midline cleft lip 60 Occasional (29-5%)
15 tetralogy of fallot 60 Occasional (29-5%)
16 ventricular septal defect 60 Very frequent (99-80%)
17 split hand 60 Occasional (29-5%)
18 cleft upper lip 33 HP:0000204
19 abnormality of the sternum 60 Very frequent (99-80%)
20 oral cleft 60 Occasional (29-5%)
21 talipes 60 Occasional (29-5%)
22 encephalocele 60 Occasional (29-5%)
23 transposition of the great arteries 33 HP:0001669
24 aplasia/hypoplasia of the radius 60 Occasional (29-5%)
25 abnormality of tibia morphology 60 Occasional (29-5%)
26 abnormal pericardium morphology 60 Very frequent (99-80%)
27 polysplenia 60 Occasional (29-5%)
28 renal dysplasia 60 Occasional (29-5%)
29 absent gallbladder 60 Occasional (29-5%)
30 ventral hernia 33 HP:0002933
31 ectopia cordis 33 HP:0001683

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
anencephaly

Cardiovascular Heart:
patent ductus arteriosus
congenital heart defect
ectopia cordis

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Kidneys:
renal agenesis

Cardiovascular Vascular:
transposition of the great vessels

Chest Ribs Sternum Clavicles And Scapulae:
sternal fusion defects

Head And Neck Mouth:
cleft palate
cleft lip/palate

Head And Neck Neck:
cystic hygroma

Abdomen External Features:
omphalocele
ventral hernia

Chest Diaphragm:
diaphragmatic hernia

Respiratory Lung:
hypoplastic lung

Clinical features from OMIM:

313850

Drugs & Therapeutics for Thoracoabdominal Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell Completed NCT02430376
2 Mutations in Genes Associated With Pentalogy of Cantrell Recruiting NCT00083499
3 Genes Mutation Pentalogy of Cantrell Withdrawn NCT00477932

Search NIH Clinical Center for Thoracoabdominal Syndrome

Genetic Tests for Thoracoabdominal Syndrome

Anatomical Context for Thoracoabdominal Syndrome

MalaCards organs/tissues related to Thoracoabdominal Syndrome:

42
Thyroid, Colon, Neutrophil, T Cells, Kidney, Spinal Cord, Placenta

Publications for Thoracoabdominal Syndrome

Articles related to Thoracoabdominal Syndrome:

(show top 50) (show all 146)
# Title Authors Year
1
Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report. ( 30912088 )
2019
2
Congenital left ventricular diverticulum in Pentalogy of Cantrell: Puzzle solved on dual source CT. ( 30922822 )
2019
3
Pentalogy of Cantrell in Full Term Neonate. ( 30972230 )
2019
4
Congenital sternal defect repair in an adult cat with incomplete pentalogy of Cantrell. ( 30986153 )
2019
5
Pentalogy of Cantrell. ( 31072457 )
2019
6
Multidisciplinary approach of assessing malformed fetuses exemplified in a rare case of pentalogy of Cantrell associated with craniorachischisis, pulmonary extrophy and right-sided aortic arch with aberrant brachiocephalic artery. ( 30534833 )
2018
7
Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report. ( 29782331 )
2018
8
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: Successful prenatal diagnosis and cesarean delivery. ( 28686315 )
2018
9
Abrogation of TGF-beta signalling in TAGLN expressing cells recapitulates Pentalogy of Cantrell in the mouse. ( 29483576 )
2018
10
Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review. ( 30075516 )
2018
11
Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins. ( 28617177 )
2017
12
Pericardio-Amniotic Shunting for Incomplete Pentalogy of Cantrell. ( 28196368 )
2017
13
A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature. ( 28203309 )
2017
14
Pentalogy of Cantrell: Is Echocardiography Sufficient in the Neonatal Period? ( 28344916 )
2017
15
Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair. ( 28770129 )
2017
16
Severe Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis. ( 28812462 )
2017
17
Unrepaired Incomplete Pentalogy of Cantrell in a 3-Year-Old Girl. ( 29187114 )
2017
18
Two cases of Pentalogy of Cantrell diagnosed antenatally at Korle Bu Teaching Hospital, Accra. ( 29622834 )
2017
19
Pentalogy of Cantrell with Unilateral Kidney Evisceration: A Case Report and Review of Literature. ( 26720496 )
2016
20
Bipolar cord coagulation for selective feticide in a monochorionic twin pregnancy complicated by pentalogy of Cantrell. ( 26927267 )
2016
21
Incomplete Pentalogy of Cantrell--A Case Report. ( 26931266 )
2016
22
Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging. ( 27358306 )
2016
23
Repair of inferior sternal cleft using a titanium plate in an infant with pentalogy of Cantrell. ( 27609343 )
2016
24
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. ( 25385246 )
2015
25
A case of pentalogy of Cantrell with double outlet right ventricle. ( 26458354 )
2015
26
Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. ( 25802780 )
2015
27
5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. ( 25959837 )
2015
28
Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. ( 26152022 )
2015
29
Class II pentalogy of Cantrell. ( 26219662 )
2015
30
Pentalogy of Cantrell: Case Report With Review of the Literature. ( 26225594 )
2015
31
Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy. ( 26421202 )
2015
32
PENTALOGY OF CANTRELL IN TWINS: A CASE REPORT. ( 26939309 )
2015
33
Pentalogy of Cantrell: a case report. ( 30363170 )
2015
34
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 )
2014
35
Pentalogy of Cantrell with Ectopia Cordis: CT Findings. ( 25926914 )
2014
36
Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell. ( 24511499 )
2014
37
One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum. ( 24588715 )
2014
38
Pentalogy of Cantrell: first case reported in Saudi Arabia. ( 24658559 )
2014
39
Multidetector computed tomographic angiography imaging of pentalogy of Cantrell. ( 24733542 )
2014
40
Successful surgical repair of pentalogy of cantrell at 14 months of age. ( 24906266 )
2014
41
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. ( 24995190 )
2014
42
Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. ( 25092102 )
2014
43
Adult survivor with repaired complete pentalogy of Cantrell. ( 25324259 )
2014
44
Pentalogy of Cantrell: the complete spectrum. ( 25378274 )
2014
45
Pentalogy of Cantrell: case report and review of the literature. ( 27493395 )
2014
46
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. ( 23404713 )
2013
47
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. ( 23979620 )
2013
48
Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell. ( 22883530 )
2013
49
Prenatal diagnosis of pentalogy of Cantrell at 11-13 weeks: Evidence for a hexalogy. ( 23259889 )
2013
50
Pentalogy of Cantrell: embryofetoscopic diagnosis. ( 23465262 )
2013

Variations for Thoracoabdominal Syndrome

Expression for Thoracoabdominal Syndrome

Search GEO for disease gene expression data for Thoracoabdominal Syndrome.

Pathways for Thoracoabdominal Syndrome

GO Terms for Thoracoabdominal Syndrome

Sources for Thoracoabdominal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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