TAS
MCID: THR017
MIFTS: 31

Thoracoabdominal Syndrome (TAS)

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). 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 202)
# Related Disease Score Top Affiliating Genes
1 pentalogy of cantrell 12.9
2 sternal cleft 11.7
3 tricuspid atresia 11.5
4 takayasu arteritis 11.5
5 pancreatic serous cystadenocarcinoma 11.2
6 perrault syndrome 1 11.1
7 ectopia cordis 10.7
8 craniorachischisis 10.6
9 double outlet right ventricle 10.6
10 tetralogy of fallot 10.5
11 omphalocele 10.4
12 exencephaly 10.4
13 hypoplastic left heart syndrome 1 10.3
14 oeis complex 10.3
15 hypoplastic left heart syndrome 10.3
16 osteonecrosis 10.3
17 bladder cancer 10.2
18 gilbert syndrome 10.2
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 colonic atresia 10.2
24 fryns microphthalmia syndrome 10.2
25 scoliosis 10.2
26 heart disease 10.2
27 hemopericardium 10.2
28 pericardial effusion 10.2
29 ventricular septal defect 10.2
30 double outlet left ventricle 10.2
31 encephalocele 10.2
32 limb-body wall complex 10.2
33 phocomelia 10.2
34 sirenomelia 10.2
35 papillary carcinoma 10.1
36 prostate cancer 10.1
37 prostate cancer, hereditary, 8 10.1
38 prostate cancer, hereditary, 6 10.1
39 in situ carcinoma 10.1
40 breast cancer 10.0
41 retinoblastoma 10.0
42 cervical intraepithelial neoplasia 10.0
43 midline interhemispheric variant of holoprosencephaly 10.0
44 protrusio acetabuli 10.0
45 body mass index quantitative trait locus 1 10.0
46 avascular necrosis of femoral head, primary, 1 10.0
47 deficiency anemia 10.0
48 hematopoietic stem cell transplantation 10.0
49 hepatitis 10.0
50 pain agnosia 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

Publications for Thoracoabdominal Syndrome

Articles related to Thoracoabdominal Syndrome:

# Title Authors Year
1
Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report. ( 30912088 )
2019
2
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
3
Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review. ( 30075516 )
2018
4
Pentalogy of Cantrell: a case report. ( 30363170 )
2015
5
Pentalogy of Cantrell: case report and review of the literature. ( 27493395 )
2014
6
Pentalogy of Cantrell with double-outlet right ventricle: a case of surgical correction. ( 21205407 )
2011
7
Pentalogy of Cantrell: case report. ( 27365830 )
2011
8
Refined genetic mapping of X-linked thoracoabdominal syndrome. ( 8834056 )
1996
9
The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder. ( 2139758 )
1990

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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