Aliases & Classifications for Heterotaxy

MalaCards integrated aliases for Heterotaxy:

Name: Heterotaxy 49 24 36
Heterotaxy Syndrome 49 24 28 69
Visceral Heterotaxy 49 24
Situs Ambiguus 49 24
Situs Ambiguus Viscerum 24
Lateralization Defect 49
Asplenia Syndrome 69
Ivemark Syndrome 24
Situs Ambiguous 49
Right Isomerism 24
Left Isomerism 24
Heterotaxia 49
Htx 24

Classifications:



External Ids:

KEGG 36 H00632

Summaries for Heterotaxy

NIH Rare Diseases : 49 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.  Last updated: 3/20/2017

MalaCards based summary : Heterotaxy, also known as heterotaxy syndrome, is related to heterotaxy, visceral, 1, x-linked and visceral heterotaxy. An important gene associated with Heterotaxy is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting), 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, liver and spleen, and related phenotypes are cardiovascular system and digestive/alimentary

Genetics Home Reference : 24 Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.

Related Diseases for Heterotaxy

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 heterotaxy, visceral, 1, x-linked 33.8 GDF1 ZIC3
2 visceral heterotaxy 30.1 ACVR2B CFAP53 CFC1 GDF1 MMP21 NODAL
3 situs inversus 29.8 CFAP53 NODAL
4 dextrocardia 29.7 ACVR2B NODAL
5 heart disease 29.7 CFC1 GDF1 NODAL ZIC3
6 conotruncal heart malformations 29.4 CFC1 GDF1
7 ventricular septal defect 29.3 GDF1 NODAL
8 heterotaxy, visceral, 5, autosomal 12.3
9 heterotaxy, visceral, 2, autosomal 12.3
10 heterotaxy, visceral, 4, autosomal 12.3
11 heterotaxy, visceral, 6, autosomal 12.2
12 heterotaxy, visceral, 7, autosomal 12.2
13 heterotaxy, visceral, 3, autosomal 12.2
14 heterotaxy, visceral, 8, autosomal 12.2
15 laterality defects, autosomal dominant 12.0
16 laterality defects dominant 11.9
17 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 11.9
18 cardiac anomalies-heterotaxy syndrome 11.8
19 right atrial isomerism 11.5
20 atrioventricular septal defect 2 11.0
21 asplenia, isolated congenital 11.0
22 pancreas, dorsal, agenesis of 10.8
23 dextrocardia with unusual facies and microphthalmia 10.8
24 ciliary dyskinesia, primary, 36, x-linked 10.7
25 ciliary dyskinesia, primary, 25 10.7
26 ciliary dyskinesia, primary, 26 10.7
27 ciliary dyskinesia, primary, 35 10.7
28 ciliary dyskinesia, primary, 2 10.6
29 ciliary dyskinesia, primary, 9 10.6
30 ciliary dyskinesia, primary, 13 10.6
31 short-rib thoracic dysplasia 7 with or without polydactyly 10.6
32 ciliary dyskinesia, primary, 17 10.6
33 ciliary dyskinesia, primary, 20 10.6
34 ciliary dyskinesia, primary, 23 10.6
35 ciliary dyskinesia, primary, 28 10.6
36 ciliary dyskinesia, primary, 30 10.6
37 ciliary dyskinesia, primary, 33 10.6
38 ciliary dyskinesia, primary, 34 10.6
39 isolated congenitally uncorrected transposition of the great arteries 10.2 CFC1 ZIC3
40 hepatitis 10.1
41 primary ciliary dyskinesia 10.0
42 atrioventricular septal defect 10.0
43 levocardia 10.0
44 tricuspid valve disease 10.0 GDF1 ZIC3
45 pulmonary arteriovenous fistulas 9.9
46 pulmonary hypertension 9.9
47 arteriovenous malformation 9.9
48 pancreatitis 9.9
49 pulmonary arteriovenous malformation 9.9
50 right aortic arch 9.9 ACVR2B CFAP53

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to Heterotaxy

Symptoms & Phenotypes for Heterotaxy

MGI Mouse Phenotypes related to Heterotaxy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 GDF1 MMP21 NODAL ACVR2B PKD1L1 ZIC3
2 digestive/alimentary MP:0005381 9.77 MMP21 NODAL PKD1L1 ZIC3 GDF1
3 growth/size/body region MP:0005378 9.73 ZIC3 GDF1 MMP21 NODAL PKD1L1 ACVR2B
4 embryo MP:0005380 9.72 ZIC3 GDF1 NODAL ACVR2B PKD1L1
5 craniofacial MP:0005382 9.71 ZIC3 GDF1 MMP21 NODAL
6 liver/biliary system MP:0005370 9.55 MMP21 NODAL ACVR2B ZIC3 GDF1
7 respiratory system MP:0005388 9.43 MMP21 NODAL ACVR2B PKD1L1 ZIC3 GDF1
8 skeleton MP:0005390 9.02 ZIC3 GDF1 MMP21 NODAL ACVR2B

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 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
6 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
7 Racial Distribution of Heterotaxy Syndrome Terminated NCT00485654

Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

Genetic tests related to Heterotaxy:

# Genetic test Affiliating Genes
1 Heterotaxy Syndrome 28

Anatomical Context for Heterotaxy

MalaCards organs/tissues related to Heterotaxy:

38
Heart, Liver, Spleen, Lung, Pancreas, Pituitary, Atrioventricular Node

Publications for Heterotaxy

Articles related to Heterotaxy:

(show top 50) (show all 297)
# Title Authors Year
1
ZIC3 in Heterotaxy. ( 29442328 )
2018
2
Vascular and Splenic Abnormalities in Heterotaxy Syndrome. ( 29289273 )
2018
3
Disharmonious Patterns of Heterotaxy and Isomerism: How Often Are the Classic Patterns Breached? ( 29444810 )
2018
4
Dilated cardiomyopathy complicated with visceral heterotaxy. ( 29040450 )
2018
5
Classifying Heterotaxy Syndrome: Time for a New Approach. ( 29444812 )
2018
6
Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy? ( 29415491 )
2018
7
Heterotaxy syndrome with intestinal malrotation, polysplenia and azygos continuity. ( 29383228 )
2018
8
Pneumococcal vaccination and efficacy in patients with heterotaxy syndrome. ( 28419083 )
2017
9
Noncompaction cardiomyopathy and heterotaxy syndrome. ( 29445263 )
2017
10
Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome. ( 28690992 )
2017
11
An Infant with Abernethy Malformation Associated with Heterotaxy and Pulmonary Hypertension. ( 28875963 )
2017
12
Case report of intestinal non-rotation, heterotaxy, and polysplenia in a patient with pancreatic cancer. ( 29245220 )
2017
13
Fulminant Haemophilus influenzae Type A Infection in a 4-year-Old with Previously Undiagnosed Asplenic Heterotaxy. ( 28858039 )
2017
14
The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome. ( 29299107 )
2017
15
Outcome of prenatally diagnosed fetal heterotaxy: A systematic review and meta-analysis. ( 28603940 )
2017
16
Practice variability in management of infectious issues in heterotaxy: A survey of pediatric cardiologists. ( 28199048 )
2017
17
Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes. ( 29169330 )
2017
18
Heterotaxy syndrome and associated arrhythmias in pediatric patients. ( 29154821 )
2017
19
Fetal echocardiographic evaluation in cases of heterotaxy syndrome. ( 28594083 )
2017
20
Segregating bodily isomerism or heterotaxy: potential echocardiographic correlations of morphological findings. ( 28367761 )
2017
21
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. ( 27637763 )
2016
22
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
23
Heterotaxy in Caenorhabditis: widespread natural variation in left-right arrangement of the major organs. ( 27821534 )
2016
24
Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management. ( 26714995 )
2016
25
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management. ( 27425254 )
2016
26
"Twin" Biliary Trees in a Patient with Heterotaxy Syndrome. ( 27504813 )
2016
27
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. ( 27406248 )
2016
28
Heterotaxy syndrome with and without spleen: Different infection risk and management. ( 27864025 )
2016
29
Fontan Operation in a Patient with Severe Hypoplastic Right Pulmonary Artery, Single Ventricle, and Heterotaxy Syndrome. ( 27713611 )
2016
30
Single institution experience with the Ladd's procedure in patients with heterotaxy and stage I palliated single-ventricle. ( 27610349 )
2016
31
Predictors of poor outcome among children with heterotaxy syndrome: a retrospective review. ( 27843561 )
2016
32
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5. ( 27618959 )
2016
33
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. ( 27821535 )
2016
34
Outcomes of multistage palliation of infants with functional single ventricle and heterotaxy syndrome. ( 27085618 )
2016
35
Evaluating a management strategy for malrotation in heterotaxy patients. ( 26968699 )
2016
36
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. ( 26982535 )
2016
37
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. ( 26918822 )
2016
38
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. ( 26777936 )
2016
39
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy. ( 26910255 )
2016
40
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome. ( 26991659 )
2016
41
Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management. ( 27844411 )
2016
42
Pulmonary Hypertension in a Patient With Congenital Heart Defects and Heterotaxy Syndrome. ( 27660582 )
2016
43
Twin Atrioventricular Nodal Reentrant Tachycardia Associated with Heterotaxy Syndrome with Malaligned Atrioventricular Canal Defect and Atrioventricular Discordance. ( 26920197 )
2016
44
Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation. ( 26973805 )
2016
45
The concept of "palliation" in children with heterotaxy syndrome. ( 27085619 )
2016
46
Screening and Treatment of Intestinal Rotational Abnormalities inA Heterotaxy: A Systematic Review and Meta-Analysis. ( 26868865 )
2016
47
An unusual occurrence: a case of venous thromboembolism in pregnancy associated with heterotaxy syndrome. ( 26052441 )
2015
48
Biventricular repair in heterotaxy patients. ( 25870336 )
2015
49
Heterotaxy syndrome with esophageal atresia. ( 25648294 )
2015
50
Low Immunoglobulin M Memory B Cell percentage in patients with Heterotaxy Syndrome Correlates with the Risk of Severe Bacterial Infection. ( 26524717 )
2015

Variations for Heterotaxy

ClinVar genetic disease variations for Heterotaxy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
2 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
3 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886037834 GRCh37 Chromosome 7, 47886558: 47886558

Expression for Heterotaxy

Search GEO for disease gene expression data for Heterotaxy.

Pathways for Heterotaxy

Pathways related to Heterotaxy according to KEGG:

36
# 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
12.77 ACVR2B CFC1 GDF1 NODAL ZIC3
2
Show member pathways
11.91 ACVR2B NODAL ZIC3
3 11.27 ACVR2B NODAL ZIC3
4 11.25 ACVR2B NODAL
5
Show member pathways
10.62 ACVR2B CFC1 GDF1 NODAL

GO Terms for Heterotaxy

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 CFAP53 CFC1 NODAL ZIC3
2 SMAD protein signal transduction GO:0060395 9.54 GDF1 NODAL
3 anterior/posterior pattern specification GO:0009952 9.54 ACVR2B NODAL ZIC3
4 heart looping GO:0001947 9.52 NODAL ZIC3
5 pattern specification process GO:0007389 9.51 ACVR2B ZIC3
6 lung development GO:0030324 9.5 ACVR2B NODAL ZIC3
7 cell development GO:0048468 9.49 GDF1 NODAL
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.48 GDF1 NODAL
9 regulation of signal transduction GO:0009966 9.46 ACVR2B NODAL
10 gastrulation GO:0007369 9.43 CFC1 NODAL
11 BMP signaling pathway GO:0030509 9.43 ACVR2B GDF1 NODAL
12 gastrulation with mouth forming second GO:0001702 9.4 ACVR2B NODAL
13 nodal signaling pathway GO:0038092 9.16 CFC1 NODAL
14 determination of left/right symmetry GO:0007368 9.1 ACVR2B CFAP53 CFC1 MMP21 NODAL ZIC3
15 positive regulation of activin receptor signaling pathway GO:0032927 8.96 ACVR2B NODAL

Molecular functions related to Heterotaxy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 8.62 GDF1 NODAL

Sources for Heterotaxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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