MCID: THR017
MIFTS: 30

Thoracoabdominal Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Thoracoabdominal Syndrome

MalaCards integrated aliases for Thoracoabdominal Syndrome:

Name: Thoracoabdominal Syndrome 57 13
Pentalogy of Cantrell 59 73
Thoraco-Abdominal Syndrome 59
Cantrell Deformity 59
Cantrell Syndrome 59
Thas 57
Tas 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked


HPO:

32
thoracoabdominal syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 313850
Orphanet 59 ORPHA1335
MESH via Orphanet 45 D058502
UMLS via Orphanet 74 C0559483
ICD10 via Orphanet 34 Q89.7
MedGen 42 C0559483
UMLS 73 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). The drug Pentobarbital has been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related phenotypes are hypospadias and renal agenesis

Wikipedia : 76 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 81)
# Related Disease Score Top Affiliating Genes
1 pentalogy of cantrell 12.7
2 sternal cleft 11.5
3 tricuspid atresia 11.3
4 takayasu arteritis 11.3
5 ectopia cordis 10.5
6 craniorachischisis 10.3
7 double outlet right ventricle 10.3
8 tetralogy of fallot 10.3
9 omphalocele 10.2
10 exencephaly 10.2
11 hypoplastic left heart syndrome 1 10.1
12 oeis complex 10.1
13 hypoplastic left heart syndrome 10.1
14 aneurysm 10.1
15 osteonecrosis 10.0
16 bladder cancer 10.0
17 frontonasal dysplasia 1 10.0
18 neural tube defects 10.0
19 heart disease 10.0
20 gilbert syndrome 10.0
21 protrusio acetabuli 9.9
22 avascular necrosis of femoral head, primary, 1 9.9
23 prosthetic joint infection 9.9
24 breast cancer 9.9
25 prostate cancer 9.9
26 prostatitis 9.9
27 papillary carcinoma 9.9
28 crigler-najjar syndrome, type i 9.8
29 leukemia 9.8
30 transitional cell carcinoma 9.8
31 bladder urothelial carcinoma 9.8
32 sickle cell disease 9.8
33 alzheimer disease 9.8
34 legg-calve-perthes disease 9.8
35 brittle bone disorder 9.8
36 hematopoietic stem cell transplantation 9.8
37 osteoarthritis 9.8
38 thalassemia 9.8
39 coccidiosis 9.8
40 protein c deficiency 9.8
41 macroglobulinemia 9.8
42 pulmonary embolism 9.8
43 ovarian cancer 9.7
44 sickle cell anemia 9.7
45 crigler-najjar syndrome, type ii 9.7
46 myocardial infarction 9.7
47 malaria 9.7
48 microvascular complications of diabetes 3 9.7
49 microvascular complications of diabetes 4 9.7
50 microvascular complications of diabetes 6 9.7

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



Diseases related to Thoracoabdominal Syndrome

Symptoms & Phenotypes for Thoracoabdominal Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Thoracoabdominal Syndrome:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 59 32 Occasional (29-5%) HP:0000047
2 renal agenesis 59 32 Occasional (29-5%) HP:0000104
3 cleft palate 59 32 Occasional (29-5%) HP:0000175
4 hydrocephalus 59 32 Occasional (29-5%) HP:0000238
5 congenital diaphragmatic hernia 59 32 Very frequent (99-80%) HP:0000776
6 omphalocele 59 32 Very frequent (99-80%) HP:0001539
7 pulmonary hypoplasia 59 32 Frequent (79-30%) HP:0002089
8 anencephaly 59 32 Occasional (29-5%) HP:0002323
9 renal dysplasia 59 Occasional (29-5%)
10 oral cleft 59 Occasional (29-5%)
11 abnormality of the sternum 59 Very frequent (99-80%)
12 split hand 59 Occasional (29-5%)
13 ventricular septal defect 59 Very frequent (99-80%)
14 atrial septal defect 59 Frequent (79-30%)
15 tetralogy of fallot 59 Occasional (29-5%)
16 abnormal pericardium morphology 59 Very frequent (99-80%)
17 polysplenia 59 Occasional (29-5%)
18 talipes 59 Occasional (29-5%)
19 encephalocele 59 Occasional (29-5%)
20 malformation of the heart and great vessels 59 Very frequent (99-80%)
21 scoliosis 59 Occasional (29-5%)
22 abnormality of tibia morphology 59 Occasional (29-5%)
23 aplasia/hypoplasia of the radius 59 Occasional (29-5%)
24 absent gallbladder 59 Occasional (29-5%)
25 non-midline cleft lip 59 Occasional (29-5%)
26 cleft upper lip 32 HP:0000204
27 cystic hygroma 32 HP:0000476
28 patent ductus arteriosus 32 HP:0001643
29 transposition of the great arteries 32 HP:0001669
30 ectopia cordis 32 HP:0001683
31 ventral hernia 32 HP:0002933

Drugs & Therapeutics for Thoracoabdominal Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pentobarbital Approved, Investigational, Vet_approved 76-74-4 4737

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:

41
Heart, Lung

Publications for Thoracoabdominal Syndrome

Articles related to Thoracoabdominal Syndrome:

# Title Authors Year
1
Refined genetic mapping of X-linked thoracoabdominal syndrome. ( 8834056 )
1996
2
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....