HTX
MCID: HTR003
MIFTS: 44

Heterotaxy (HTX)

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Heterotaxy

MalaCards integrated aliases for Heterotaxy:

Name: Heterotaxy 76 53 25 37
Heterotaxy Syndrome 53 25 73
Visceral Heterotaxy 53 25
Situs Ambiguus 53 25
Situs Ambiguus Viscerum 25
Lateralization Defect 53
Asplenia Syndrome 73
Ivemark Syndrome 25
Right Isomerism 25
Situs Ambiguous 53
Left Isomerism 25
Heterotaxia 53
Htx 25

Classifications:



External Ids:

KEGG 37 H00632

Summaries for Heterotaxy

NIH Rare Diseases : 53 Heterotaxy is a condition characterized by internal organs that are not arranged as would be expected in the chest and abdomen. Organs are expected to be in a particular orientation inside of the body, known as situs solitus. Heterotaxy occurs when the organs are not in this typical orientation, but are instead in different positions in the body. This most commonly causes complications with the heart, lungs, liver, spleen, and intestines. Specific symptoms include not getting enough oxygen throughout the body, breathing difficulties, increased risk for infection, and problems digesting food. Heterotaxy may be caused by genetic changes (mutations), exposures to toxins while a woman is pregnant causing the baby to have heterotaxy, or the condition may occur sporadically. The condition is typically diagnosed through imaging such as an echocardiogram or an MRI. Treatment depends on the specific symptoms of each person, but typically includes heart surgery and monitoring by a team of specialists. 

MalaCards based summary : Heterotaxy, also known as heterotaxy syndrome, is related to visceral heterotaxy and heart disease. An important gene associated with Heterotaxy is ZIC3 (Zic Family Member 3), and among its related pathways/superpathways are TGF-beta signaling pathway and Cytokine-cytokine receptor interaction. The drugs Kava and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and lung, and related phenotypes are cardiovascular system and embryo

Wikipedia : 76 Situs ambiguus or situs ambiguous, also known as heterotaxy or heterotaxia, is a rare congenital defect... more...

Related Diseases for Heterotaxy

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 32.4 ACVR2B CFAP53 CFC1 MMP21 NODAL ZIC3
2 heart disease 30.4 CFC1 NODAL ZIC3
3 situs inversus 30.3 CFAP53 NODAL
4 double outlet right ventricle 30.0 CFC1 ZIC3
5 dextrocardia 29.7 ACVR2B CFAP53 NODAL
6 transposition of the great arteries 29.7 CFAP53 ZIC3
7 atrial heart septal defect 29.7 CFC1 NODAL
8 dextrocardia with situs inversus 29.7 CFAP53 MMP21 NODAL
9 ventricular septal defect 29.6 NODAL ZIC3
10 heterotaxy, visceral, 1, x-linked 12.7
11 heterotaxy, visceral, 5, autosomal 12.5
12 heterotaxy, visceral, 2, autosomal 12.5
13 heterotaxy, visceral, 4, autosomal 12.5
14 heterotaxy, visceral, 6, autosomal 12.4
15 heterotaxy, visceral, 8, autosomal 12.4
16 heterotaxy, visceral, 7, autosomal 12.4
17 heterotaxy, visceral, 3, autosomal 12.4
18 laterality defects dominant 12.1
19 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.0
20 right atrial isomerism 12.0
21 cardiac anomalies-heterotaxy syndrome 12.0
22 campomelia, cumming type 11.4
23 atrioventricular septal defect 2 11.2
24 heinz body anemias 11.2
25 asplenia, isolated congenital 11.2
26 atrioventricular septal defect 4 11.1
27 atrioventricular septal defect 5 11.1
28 pancreas, dorsal, agenesis of 11.0
29 ciliary dyskinesia, primary, 36, x-linked 10.9
30 ciliary dyskinesia, primary, 25 10.9
31 ciliary dyskinesia, primary, 26 10.9
32 ciliary dyskinesia, primary, 35 10.9
33 ciliary dyskinesia, primary, 2 10.7
34 ciliary dyskinesia, primary, 9 10.7
35 ciliary dyskinesia, primary, 13 10.7
36 short-rib thoracic dysplasia 7 with or without polydactyly 10.7
37 ciliary dyskinesia, primary, 17 10.7
38 ciliary dyskinesia, primary, 20 10.7
39 ciliary dyskinesia, primary, 23 10.7
40 ciliary dyskinesia, primary, 28 10.7
41 ciliary dyskinesia, primary, 30 10.7
42 ciliary dyskinesia, primary, 33 10.7
43 ciliary dyskinesia, primary, 34 10.7
44 ciliary dyskinesia, primary, 38 10.7
45 hydrocephalus 10.3
46 primary ciliary dyskinesia 10.2
47 congenital hydrocephalus 10.2
48 levocardia 10.1
49 atrioventricular septal defect 10.1
50 pulmonary hypertension 10.1

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to Heterotaxy

Symptoms & Phenotypes for Heterotaxy

MGI Mouse Phenotypes related to Heterotaxy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 ACVR2B CFAP53 MMP21 NODAL ZIC3
2 embryo MP:0005380 9.56 ACVR2B CFAP53 NODAL ZIC3
3 growth/size/body region MP:0005378 9.55 ACVR2B CFAP53 MMP21 NODAL ZIC3
4 liver/biliary system MP:0005370 9.35 ACVR2B CFAP53 MMP21 NODAL ZIC3
5 respiratory system MP:0005388 9.02 ACVR2B CFAP53 MMP21 NODAL ZIC3

Drugs & Therapeutics for Heterotaxy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Approved, Investigational, Nutraceutical 9000-38-8
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
3 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
4 Genetic Analysis of Left-Right Axis Formations Completed NCT00341133
5 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
6 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
7 Racial Distribution of Heterotaxy Syndrome Terminated NCT00485654

Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

Anatomical Context for Heterotaxy

MalaCards organs/tissues related to Heterotaxy:

41
Heart, Spleen, Lung, Liver, Testes, Pancreas, T Cells

Publications for Heterotaxy

Articles related to Heterotaxy:

(show top 50) (show all 321)
# Title Authors Year
1
Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy. ( 29678940 )
2018
2
Response by Yoo et al to Letter Regarding Article, "Disharmonious Patterns of Heterotaxy and Isomerism: How Often Are the Classic Patterns Breached?" ( 29895715 )
2018
3
ZIC3 in Heterotaxy. ( 29442328 )
2018
4
Heterotaxy Syndrome. ( 29544591 )
2018
5
Letter by Loomba et al Regarding Article, "Disharmonious Patterns of Heterotaxy and Isomerism: How Often Are the Classic Patterns Breached?" ( 29895714 )
2018
6
Atypical perioperative management for duodenal obstruction in an infant with heterotaxy syndrome: a case report. ( 29479560 )
2018
7
Extra-anatomic suprahepatic to innominate vein conduit in heterotaxy. ( 29655540 )
2018
8
Heterotaxy syndrome with intestinal malrotation, polysplenia and azygos continuity. ( 29383228 )
2018
9
Vascular and Splenic Abnormalities in Heterotaxy Syndrome. ( 29289273 )
2018
10
Dilated cardiomyopathy complicated with visceral heterotaxy. ( 29040450 )
2018
11
Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy? ( 29415491 )
2018
12
Intrahepatic cholangiocarcinoma after Fontan procedure in an adult with visceral heterotaxy. ( 29559246 )
2018
13
Classifying Heterotaxy Syndrome: Time for a New Approach. ( 29444812 )
2018
14
Malrotation is not associated with adverse outcomes after cardiac surgery in patients with heterotaxy syndrome. ( 29453132 )
2018
15
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2018
16
Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome. ( 30247160 )
2018
17
Successful Heart Transplantation in Two Infants with Dextrocardia-Heterotaxy Syndrome. ( 30081023 )
2018
18
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease. ( 30120289 )
2018
19
Disharmonious Patterns of Heterotaxy and Isomerism: How Often Are the Classic Patterns Breached? ( 29444810 )
2018
20
Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects. ( 29843777 )
2018
21
Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience. ( 30041775 )
2018
22
Heterotaxy Syndrome and Intestinal Rotation Abnormalities. ( 30049892 )
2018
23
The Role of Cilia in the Setting of Isomerism and why Isomerism is not a Subset of Heterotaxy. ( 30123757 )
2018
24
Transposition of the great arteries: A laterality defect in the group of heterotaxy syndromes or an outflow tract malformation? ( 30271012 )
2018
25
Heterotaxy syndrome. ( 30369671 )
2018
26
Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes. ( 29169330 )
2017
27
Fetal echocardiographic evaluation in cases of heterotaxy syndrome. ( 28594083 )
2017
28
Case report of intestinal non-rotation, heterotaxy, and polysplenia in a patient with pancreatic cancer. ( 29245220 )
2017
29
Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome. ( 28690992 )
2017
30
Segregating bodily isomerism or heterotaxy: potential echocardiographic correlations of morphological findings. ( 28367761 )
2017
31
Fulminant Haemophilus influenzae Type A Infection in a 4-year-Old with Previously Undiagnosed Asplenic Heterotaxy. ( 28858039 )
2017
32
Outcome of prenatally diagnosed fetal heterotaxy: A systematic review and meta-analysis. ( 28603940 )
2017
33
Pneumococcal vaccination and efficacy in patients with heterotaxy syndrome. ( 28419083 )
2017
34
Heterotaxy syndrome and associated arrhythmias in pediatric patients. ( 29154821 )
2017
35
The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome. ( 29299107 )
2017
36
An Infant with Abernethy Malformation Associated with Heterotaxy and Pulmonary Hypertension. ( 28875963 )
2017
37
Practice variability in management of infectious issues in heterotaxy: A survey of pediatric cardiologists. ( 28199048 )
2017
38
Noncompaction cardiomyopathy and heterotaxy syndrome. ( 29445263 )
2017
39
Isomerism in the setting of the so-called "heterotaxy": The usefulness of computed tomographic analysis. ( 28566826 )
2017
40
Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts. ( 27878633 )
2016
41
"Twin" Biliary Trees in a Patient with Heterotaxy Syndrome. ( 27504813 )
2016
42
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. ( 26982535 )
2016
43
Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation. ( 26973805 )
2016
44
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. ( 26918822 )
2016
45
Pulmonary Arterial Hypertension in Patients with Heterotaxy/Polysplenia Syndrome ( 29787106 )
2016
46
Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management. ( 27844411 )
2016
47
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. ( 27637763 )
2016
48
Heterotaxy syndrome with and without spleen: Different infection risk and management. ( 27864025 )
2016
49
Left-Right Asymmetry and Human Heterotaxy Syndrome ( 29787107 )
2016
50
Evaluating a management strategy for malrotation in heterotaxy patients. ( 26968699 )
2016

Variations for Heterotaxy

Expression for Heterotaxy

Search GEO for disease gene expression data for Heterotaxy.

Pathways for Heterotaxy

Pathways related to Heterotaxy according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350
2 Cytokine-cytokine receptor interaction hsa04060

Pathways related to Heterotaxy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 ACVR2B CFC1 NODAL ZIC3
2
Show member pathways
11.81 ACVR2B NODAL ZIC3
3 11.27 ACVR2B NODAL ZIC3
4 11.18 ACVR2B NODAL
5
Show member pathways
10.5 ACVR2B CFC1 NODAL

GO Terms for Heterotaxy

Biological processes related to Heterotaxy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.8 CFAP53 CFC1 NODAL ZIC3
2 heart development GO:0007507 9.61 ACVR2B CFC1 NODAL
3 pattern specification process GO:0007389 9.52 ACVR2B ZIC3
4 heart looping GO:0001947 9.51 NODAL ZIC3
5 regulation of signal transduction GO:0009966 9.48 ACVR2B NODAL
6 gastrulation GO:0007369 9.46 CFC1 NODAL
7 lung development GO:0030324 9.43 ACVR2B NODAL ZIC3
8 gastrulation with mouth forming second GO:0001702 9.4 ACVR2B NODAL
9 nodal signaling pathway GO:0038092 9.37 CFC1 NODAL
10 BMP signaling pathway GO:0030509 9.33 ACVR2B CFC1 NODAL
11 positive regulation of activin receptor signaling pathway GO:0032927 9.32 ACVR2B NODAL
12 anterior/posterior pattern specification GO:0009952 9.26 ACVR2B CFC1 NODAL ZIC3
13 determination of left/right symmetry GO:0007368 9.1 ACVR2B CFAP53 CFC1 MMP21 NODAL ZIC3

Sources for Heterotaxy

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
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