MCID: HTR003
MIFTS: 41

Heterotaxy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Heterotaxy

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Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 46 24
Heterotaxy Syndrome 46 23 24 25 66
Polysplenia Syndrome 23 25
Visceral Heterotaxy 46 24
Asplenia Syndrome 23 66
Ivemark Syndrome 23 24
Situs Ambiguus 46 24
Heterotaxy, Visceral, 2, Autosomal 66
 
Situs Ambiguus Viscerum 24
Lateralization Defect 46
Situs Ambiguous 46
Right Isomerism 24
Left Isomerism 24
Heterotaxia 46
Htx 24

Classifications:



Summaries for Heterotaxy

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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.

MalaCards based summary: Heterotaxy, also known as heterotaxy syndrome, is related to heterotaxy, visceral, 1, x-linked and heterotaxy, visceral, 2, autosomal. An important gene associated with Heterotaxy is ZIC3 (Zic Family Member 3), and among its related pathways are TGF-beta signaling pathway (KEGG) and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart, spleen and lung, and related mouse phenotypes are liver/biliary system and skeleton.

Related Diseases for Heterotaxy

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 1, x-linked12.2
2heterotaxy, visceral, 2, autosomal12.1
3heterotaxy, visceral, 4, autosomal12.1
4heterotaxy, visceral, 6, autosomal recessive12.1
5heterotaxy, visceral, 512.0
6heterotaxy, visceral, 7, autosomal12.0
7visceral heterotaxy12.0
8heterotaxy, visceral, 3, autosomal12.0
9acvr2b-related visceral heterotaxy11.9
10cfc1-related visceral heterotaxy11.9
11nodal-related visceral heterotaxy11.9
12zic3-related visceral heterotaxy11.9
13laterality defects dominant11.9
14double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy11.9
15lefty2-related visceral heterotaxy11.8
16cardiac anomalies-heterotaxy syndrome11.8
17right atrial isomerism11.4
18atrioventricular septal defect 211.0
19heart disease10.3
20congenital heart disease10.3
21hepatitis10.2
22asplenia, isolated congenital10.0
23renal-hepatic-pancreatic dysplasia10.0
24primary ciliary dyskinesia10.0
25atrioventricular septal defect10.0
26situs inversus10.0
27pyelonephritis10.0CFC1, ZIC3
28arteriovenous malformation10.0
29pulmonary arteriovenous malformation10.0
30levocardia10.0
31agenesis of the dorsal pancreas9.9
32bacteremia9.9
33total anomalous pulmonary venous return9.9
34pulmonary hypertension9.9
35holoprosencephaly9.9
36atrioventricular block9.9
37pancreatitis9.9
38dextrocardia9.9
39congenital extrahepatic portosystemic shunt9.9
40aortic coarctation9.9
41isolated levocardia9.9
42cardiomyopathy9.9
43adult t-cell leukemia9.9
44hydrocephalus9.9
45leukemia9.9
46retinitis9.9
47t-cell leukemia9.9
48congenital hydrocephalus9.9
49intermediate maple syrup urine disease9.9
50neovascular glaucoma9.8CFC1, NODAL

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to heterotaxy

Symptoms for Heterotaxy

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Drugs & Therapeutics for Heterotaxy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1KavaNutraceutical1379000-38-8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study DataCompletedNCT01929967
2Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
3Genetic Analysis of Left-Right Axis FormationsCompletedNCT00341133
4Molecular Genetics of Heterotaxy and Related Congenital Heart DefectsRecruitingNCT02432079
5Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyRecruitingNCT01591928
6Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
7Racial Distribution of Heterotaxy SyndromeTerminatedNCT00485654

Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

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Genetic tests related to Heterotaxy:

id Genetic test Affiliating Genes
1 Heterotaxy Syndrome25 23 ZIC3
2 Polysplenia25

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

34
Heart, Spleen, Lung, Liver, Atrioventricular node, Pancreas, B cells

Animal Models for Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Heterotaxy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ACVR2B, MMP21, NODAL, ZIC3
2MP:00053908.4ACVR2B, MMP21, NODAL, ZIC3
3MP:00053888.1ACVR2B, MMP21, NODAL, ZIC3

Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 270)
idTitleAuthorsYear
1
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. (26982535)
2016
2
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. (26777936)
2016
3
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome. (26991659)
2016
4
Determining bronchial morphology for the purposes of segregating so-called heterotaxy. (26159655)
2015
5
A rare case of heterotaxy and left ventricular non-compaction in an adult. (26323941)
2015
6
Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome. (26571485)
2015
7
Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting. (26467876)
2015
8
Invited Commentary: Biventricular Repair in Heterotaxy Patients. (25870337)
2015
9
Decreased baseline variability on fetal heart rate pattern in a fetus with heterotaxy syndrome. (26421346)
2015
10
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. (24793683)
2014
11
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). (24996551)
2014
12
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
13
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
14
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
15
Interstage mortality for functional single ventricle with heterotaxy syndrome: a retrospective study of the clinical experience of a single tertiary center. (23591028)
2013
16
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
17
Ladd's procedure in functional single ventricle and heterotaxy syndrome: does timing affect outcome? (23434253)
2013
18
Heterotaxy Syndrome: Impact of Ventricular Morphology on Resource Utilization. (23797157)
2013
19
Hepatic venous occlusion during cardiopulmonary bypass in patients with heterotaxy syndrome: a safe but underutilized option. (23272890)
2013
20
Heterotaxy and isomerism. (22874430)
2012
21
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
22
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
23
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
24
Visceral heterotaxy in the developing world. (22726404)
2012
25
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
26
Challenges of univentricular physiology in heterotaxy. (23804982)
2011
27
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. (21233261)
2011
28
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
29
Intracardiac Fontan procedure for heterotaxy syndrome with complex systemic and pulmonary venous anomalies. (19695897)
2010
30
Intraatrial baffle repair of anomalous systemic venous return without hepatic venous drainage in heterotaxy syndrome. (20179917)
2010
31
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
32
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
33
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. (19064609)
2009
34
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
35
Evaluation of anomalous systemic and pulmonary venous return in a young child with heterotaxy: a case study--implications for military dependent care. (18419039)
2008
36
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
37
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
38
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
39
Incorporation of the hepatic veins into the cavopulmonary circulation in patients with heterotaxy and pulmonary arteriovenous malformations after a Kawashima procedure. (16242423)
2005
40
Usefulness of cardiac transplantation in children with visceral heterotaxy (asplenic and polysplenic syndromes and single right-sided spleen with levocardia) and comparison of results with cardiac transplantation in children with dilated cardiomyopathy. (12031727)
2002
41
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
42
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. (11117404)
2000
43
Situs revisited: imaging of the heterotaxy syndrome. (10464794)
1999
44
Diagnosis of heterotaxy syndrome by fetal echocardiography. (9817503)
1998
45
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. (8873667)
1996
46
Diagnosis of heterotaxy syndrome. (7828322)
1995
47
Radiofrequency ablation of accessory pathways associated with congenital heart disease including heterotaxy syndrome. (8249846)
1993
48
Factors influencing survival of patients with heterotaxy syndrome undergoing the Fontan procedure. (1380966)
1992
49
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. (1959204)
1991
50
Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or normally formed spleen: an erroneous concept. (2252000)
1990

Variations for Heterotaxy

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Clinvar genetic disease variations for Heterotaxy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001492.5(GDF1): c.681C> A (p.Cys227Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121434422GRCh37Chr 19, 18979844: 18979844

Expression for genes affiliated with Heterotaxy

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Search GEO for disease gene expression data for Heterotaxy.

Pathways for genes affiliated with Heterotaxy

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Pathways related to Heterotaxy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3ACVR2B, NODAL
28.9ACVR2B, NODAL, ZIC3
3
Show member pathways
8.9ACVR2B, CFC1, NODAL
4
Show member pathways
8.5ACVR2B, CFC1, NODAL, ZIC3

GO Terms for genes affiliated with Heterotaxy

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nodal signaling pathwayGO:00380929.9CFC1, NODAL
2gastrulationGO:00073699.8CFC1, NODAL
3heart loopingGO:00019479.7NODAL, ZIC3
4positive regulation of activin receptor signaling pathwayGO:00329279.7ACVR2B, NODAL
5gastrulation with mouth forming secondGO:00017029.7ACVR2B, NODAL
6regulation of signal transductionGO:00099669.6ACVR2B, NODAL
7pattern specification processGO:00073899.6ACVR2B, ZIC3
8BMP signaling pathwayGO:00305099.3ACVR2B, NODAL
9anterior/posterior pattern specificationGO:00099529.2ACVR2B, NODAL, ZIC3
10lung developmentGO:00303249.1ACVR2B, NODAL, ZIC3
11determination of left/right symmetryGO:00073687.9ACVR2B, CFC1, MMP21, NODAL, ZIC3

Sources for Heterotaxy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet