THAS
MCID: THR017
MIFTS: 39

Thoracoabdominal Syndrome (THAS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Thoracoabdominal Syndrome

MalaCards integrated aliases for Thoracoabdominal Syndrome:

Name: Thoracoabdominal Syndrome 56 13
Pentalogy of Cantrell 52 58 71
Thoraco-Abdominal Syndrome 52 58
Cantrell Deformity 52 58
Cantrell Syndrome 52 58
Cantrell Haller Ravitsch Syndrome 52
Cantrell Pentalogy 52
Thas 56
Tas 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked


HPO:

31
thoracoabdominal syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Thoracoabdominal Syndrome

NIH Rare Diseases : 52 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.

MalaCards based summary : Thoracoabdominal Syndrome, also known as pentalogy of cantrell, is related to tricuspid atresia and sternal cleft. An important gene associated with Thoracoabdominal Syndrome is THAS (Thoracoabdominal Syndrome). The drugs Tranexamic Acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and kidney, and related phenotypes are ventricular septal defect and abnormal pericardium morphology

Wikipedia : 74 Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving... more...

More information 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 399)
# Related Disease Score Top Affiliating Genes
1 tricuspid atresia 11.9
2 sternal cleft 11.9
3 takayasu arteritis 11.6
4 pancreatic serous cystadenocarcinoma 11.3
5 cardiomyopathy, dilated, 1g 11.3
6 ectopia cordis 11.0
7 omphalocele 11.0
8 abdominal wall defect 10.8
9 bladder cancer 10.7
10 double outlet right ventricle 10.7
11 tetralogy of fallot 10.7
12 ventricular septal defect 10.7
13 craniorachischisis 10.6
14 osteonecrosis 10.6
15 iniencephaly 10.5
16 atrial heart septal defect 10.5
17 osteoarthritis 10.5
18 gilbert syndrome 10.5
19 cleft lip 10.5
20 in situ carcinoma 10.5
21 cystic lymphangioma 10.4
22 dextrocardia 10.4
23 single ventricular heart 10.4
24 univentricular heart 10.4
25 bilirubin metabolic disorder 10.4
26 microvascular complications of diabetes 3 10.4
27 microvascular complications of diabetes 4 10.4
28 microvascular complications of diabetes 6 10.4
29 microvascular complications of diabetes 7 10.4
30 transitional cell carcinoma 10.4
31 bladder urothelial carcinoma 10.3
32 cleft palate, isolated 10.3
33 neural tube defects 10.3
34 anencephaly 10.3
35 anus, imperforate 10.3
36 oeis complex 10.3
37 fryns microphthalmia syndrome 10.3
38 myelomeningocele 10.3
39 hemopericardium 10.3
40 pericardial effusion 10.3
41 polyhydramnios 10.3
42 hypoplastic left heart syndrome 10.3
43 encephalocele 10.3
44 cleft lip/palate 10.3
45 alzheimer disease 10.3
46 avascular necrosis 10.3
47 pulmonary embolism 10.2
48 prosthetic joint infection 10.2
49 rare disease in surgical orthopedic 10.2
50 cystitis 10.2

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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
2 abnormal pericardium morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001697
3 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
4 abnormality of the sternum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000766
5 omphalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0001539
6 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
7 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
8 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
9 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
11 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
12 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
13 absent gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0011467
14 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
15 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
16 abnormality of tibia morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002992
17 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
18 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
19 anencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002323
20 aplasia/hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0006501
21 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
22 renal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000110
23 polysplenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001748
24 malformation of the heart and great vessels 58 Very frequent (99-80%)
25 patent ductus arteriosus 31 HP:0001643
26 cystic hygroma 31 HP:0000476
27 cleft upper lip 31 HP:0000204
28 oral cleft 58 Occasional (29-5%)
29 transposition of the great arteries 31 HP:0001669
30 ventral hernia 31 HP:0002933
31 ectopia cordis 31 HP:0001683

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hydrocephalus
anencephaly

Cardiovascular Heart:
patent ductus arteriosus
ectopia cordis
congenital heart defect

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

Drugs for Thoracoabdominal Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Neurotransmitter Agents Phase 4
3 Nootropic Agents Phase 4
4 Cholinergic Agents Phase 4
5 Cholinesterase Inhibitors Phase 4
6 Autonomic Agents Phase 4
7 Antifibrinolytic Agents Phase 4
8 Coagulants Phase 4
9 Hemostatics Phase 4
10
Etoricoxib Approved, Investigational Phase 3 202409-33-4 123619
11
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
12 Anti-Inflammatory Agents Phase 3
13 Cyclooxygenase 2 Inhibitors Phase 3
14 Analgesics, Non-Narcotic Phase 3
15 Analgesics Phase 3
16 Cyclooxygenase Inhibitors Phase 3
17 Antirheumatic Agents Phase 3
18 Anti-Inflammatory Agents, Non-Steroidal Phase 3
19
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
20
tannic acid Approved 1401-55-4
21
Cobalt Approved, Experimental 7440-48-4 104729
22
Chromium Approved 7440-47-3 27668

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Is Ceramic-on-Ceramic THA Superior to Ceramic-on-Highly Cross-Linked Polyethylene THA in Patients Less Than 55 Years Old? Completed NCT03639532 Phase 4
2 Prospective Randomized Study Comparing Topical Versus Intravenous Tranexamic Acid in Anterior Total Hip Arthroplasty Recruiting NCT03359525 Phase 4 Tranexamic Acid
3 Use of Etoricoxib Compared to Diclofenac in the Perioperative Treatment of Patients After Total Hip Arthroplasty, a Prospective, Double Blind, Phase III Study Completed NCT01229774 Phase 3 Etoricoxib;Diclofenac
4 The Clinical Outcomes After Mini-incision Direct Anterior Approach and Microposterior Approach for Total Hip Arthroplasty Unknown status NCT03210844
5 dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell Completed NCT02430376
6 Mutations in Genes Associated With Pentalogy of Cantrell Completed NCT00083499
7 Retrospective Study About Cementless Total Hip Arthroplasty With Ceramic-on-ceramic Bearing Surfaces for Post-traumatic Hip Osteoarthritis After Acetabular Fracture: Long-term Results (ATP) Completed NCT04034043
8 Serum Metal Ion Concentrations Following Unilateral Versus Bilateral Large Head Metal on Metal Primary Hip Arthroplasty Completed NCT00714610
9 A Five-Year Metal-on-Metal Retrospective Clinical Study Completed NCT01481896
10 Digital Preop-planning of Total Hip Arthroplasties in Orthopedic Recruiting NCT04090372
11 The Ability Of MRI To Detect Adverse Local Tissue Reaction And Implant Integration As A Function Of Hip Implant Modularity Recruiting NCT02255331
12 Improving Rehabilitation Outcomes After Total Hip Arthroplasty Recruiting NCT02920866
13 Post-Market Surveillance of the Wright Medical Technology Metal-on-Metal Total Hip System (FDA 522 Order) Enrolling by invitation NCT03450733
14 Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes 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:

40
Heart, Lung, Kidney, Liver, Colon, Thyroid

Publications for Thoracoabdominal Syndrome

Articles related to Thoracoabdominal Syndrome:

(show top 50) (show all 233)
# Title Authors PMID Year
1
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. 61 56
21484999 2011
2
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. 61 56
19586929 2009
3
Refined genetic mapping of X-linked thoracoabdominal syndrome. 56 61
8834056 1996
4
Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. 61 56
1554024 1992
5
Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. 56 61
1308371 1992
6
The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder. 56 61
2139758 1990
7
Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. 56
7909197 1994
8
Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene? 56
2363430 1990
9
X-linked midline defects. 56
4039891 1985
10
CNS anomalies and the midline as a "developmental field". 56
7124797 1982
11
A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. 56
13592660 1958
12
Outcomes for Ectopia Cordis. 61
31668886 2020
13
Diagnosis of fetal defects in twin pregnancies at routine ultrasound examination at 11-13 weeks' gestation. 61
31788879 2019
14
Imaging of Thoracic Wall Abnormalities. 61
31544369 2019
15
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
16
Complete and Incomplete Pentalogy of Cantrell. 61
31590448 2019
17
Congenital Left Ventricular Diverticulum in Pentalogy of Cantrell: Puzzle Solved With Dual-Source CT. 61
30922822 2019
18
Norwood Operation of a Neonate with Pentalogy of Cantrell. 61
31238028 2019
19
Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis. 61
31215820 2019
20
Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report. 61
30912088 2019
21
Congenital sternal defect repair in an adult cat with incomplete pentalogy of Cantrell. 61
30986153 2019
22
[Anesthesia for surgical repair of the pentalogy of Cantrell: case report]. 61
30470449 2019
23
Pentalogy of Cantrell. 61
31072457 2019
24
Pentalogy of Cantrell in Full Term Neonate. 61
30972230 2019
25
Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis. 61
31497059 2019
26
Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report. 61
29782331 2018
27
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 61
30377551 2018
28
Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review. 61
30075516 2018
29
Primary versus Staged Closure of Exomphalos Major: Cardiac Anomalies Do Not Affect Outcome. 61
28561133 2018
30
Fetal anterior abdominal wall defects: prenatal imaging by magnetic resonance imaging. 61
29550866 2018
31
LDT classification and therapeutic strategy of congenital body wall defects. 61
29029959 2018
32
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: Successful prenatal diagnosis and cesarean delivery. 61
28686315 2018
33
Abrogation of TGF-beta signalling in TAGLN expressing cells recapitulates Pentalogy of Cantrell in the mouse. 61
29483576 2018
34
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. 61
30534833 2018
35
Cantrell Syndrome-A Rare Complex Congenital Anomaly: A Case Report and Literature Review. 61
30065917 2018
36
Two cases of Pentalogy of Cantrell diagnosed antenatally at Korle Bu Teaching Hospital, Accra. 61
29622834 2017
37
Unrepaired Incomplete Pentalogy of Cantrell in a 3-Year-Old Girl. 61
29187114 2017
38
Sternal malformations and anesthetic management. 61
29030926 2017
39
[Prenatal diagnosis of abdominal wall defects]. 61
28890277 2017
40
Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins. 61
28617177 2017
41
Congenital Diaphragmatic Hernia with Liver Herniation into the Pericardial Sac in a 30-Week Gestation Infant. 61
28812464 2017
42
Severe Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis. 61
28812462 2017
43
Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair. 61
28770129 2017
44
A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature. 61
28203309 2017
45
FilaminA and Formin2 regulate skeletal, muscular, and intestinal formation through mesenchymal progenitor proliferation. 61
29240780 2017
46
Complete Ectopia Cordis: A Case Report and Literature Review. 61
28503337 2017
47
Pentalogy of Cantrell: Is Echocardiography Sufficient in the Neonatal Period? 61
28344916 2017
48
Pericardio-Amniotic Shunting for Incomplete Pentalogy of Cantrell. 61
28196368 2017
49
Repair of inferior sternal cleft using a titanium plate in an infant with pentalogy of Cantrell. 61
27609343 2016
50
Is 1p36 deletion associated with anterior body wall defects? 61
27144803 2016

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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