MCID: HTR003
MIFTS: 42

Heterotaxy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Heterotaxy

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Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 47 25
Heterotaxy Syndrome 47 24 25 26 67
Polysplenia Syndrome 24 26
Visceral Heterotaxy 47 25
Asplenia Syndrome 24 67
Ivemark Syndrome 24 25
Situs Ambiguus 47 25
Heterotaxy, Visceral, 2, Autosomal 67
 
Situs Ambiguus Viscerum 25
Lateralization Defect 47
Right Isomerism 25
Situs Ambiguous 47
Left Isomerism 25
Heterotaxia 47
Htx 25

Classifications:



Summaries for Heterotaxy

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Genetics Home Reference:25 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 Signaling pathways regulating pluripotency of stem cells and Signaling by NODAL. Affiliated tissues include heart, spleen and liver, and related mouse phenotypes are liver/biliary system and respiratory system.

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 89)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 1, x-linked12.3
2heterotaxy, visceral, 2, autosomal12.2
3heterotaxy, visceral, 4, autosomal12.2
4heterotaxy, visceral, 512.1
5heterotaxy, visceral, 6, autosomal recessive12.1
6heterotaxy, visceral, 7, autosomal12.1
7heterotaxy, visceral, 3, autosomal12.0
8visceral heterotaxy11.9
9laterality defects dominant11.8
10acvr2b-related visceral heterotaxy11.8
11cfc1-related visceral heterotaxy11.8
12nodal-related visceral heterotaxy11.8
13zic3-related visceral heterotaxy11.8
14double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy11.7
15lefty2-related visceral heterotaxy11.7
16cardiac anomalies-heterotaxy syndrome11.7
17renal-hepatic-pancreatic dysplasia11.0
18atrioventricular septal defect 210.9
19asplenia, isolated congenital10.9
20right atrial isomerism10.8
21ciliary dyskinesia, primary, 2510.7
22ciliary dyskinesia, primary, 2610.7
23short-rib thoracic dysplasia 7 with or without polydactyly10.5
24ciliary dyskinesia, primary, 2810.5
25ciliary dyskinesia, primary, 2310.5
26ciliary dyskinesia, primary, 1310.5
27ciliary dyskinesia, primary, 1710.5
28ciliary dyskinesia, primary, 3010.5
29ciliary dyskinesia, primary, 2010.5
30ciliary dyskinesia, primary, 210.5
31ciliary dyskinesia, primary, 9, with or without situs inversus10.5
32primary ciliary dyskinesia 3510.5
33heart disease10.2
34hepatitis10.0
35pyelonephritis10.0CFC1, ZIC3
36primary ciliary dyskinesia10.0
37atrioventricular septal defect9.9
38arteriovenous malformation9.8
39pulmonary arteriovenous malformation9.8
40levocardia9.8
41hiatus hernia9.8
42neovascular glaucoma9.8CFC1, NODAL
43bacteremia9.8
44total anomalous pulmonary venous return9.8
45pulmonary hypertension9.8
46holoprosencephaly9.8
47atrioventricular block9.8
48pancreatitis9.8
49dextrocardia9.8
50aortic coarctation9.8

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
1Liver Extracts3868
2Kavanutraceutical1489000-38-8

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 CiliopathiesActive, not recruitingNCT00068224
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 Syndrome26 24 ZIC3
2 Polysplenia26

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

35
Heart, Spleen, Liver, Lung, Atrioventricular node, B cells, Testes

Animal Models for Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Heterotaxy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9ACVR2B, MMP21, NODAL, ZIC3
2MP:00053888.9ACVR2B, MMP21, NODAL, ZIC3
3MP:00053908.2ACVR2B, MMP21, NODAL, ZIC3

Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 277)
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
Heterotaxy in Caenorhabditis: widespread natural variation in left-right arrangement of the major organs. (27821534)
2016
4
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome. (26991659)
2016
5
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. (27821535)
2016
6
Determining bronchial morphology for the purposes of segregating so-called heterotaxy. (26159655)
2015
7
A rare case of heterotaxy and left ventricular non-compaction in an adult. (26323941)
2015
8
Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome. (26571485)
2015
9
Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting. (26467876)
2015
10
Invited Commentary: Biventricular Repair in Heterotaxy Patients. (25870337)
2015
11
Decreased baseline variability on fetal heart rate pattern in a fetus with heterotaxy syndrome. (26421346)
2015
12
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. (24793683)
2014
13
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). (24996551)
2014
14
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
15
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
16
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
17
Interstage mortality for functional single ventricle with heterotaxy syndrome: a retrospective study of the clinical experience of a single tertiary center. (23591028)
2013
18
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
19
Ladd's procedure in functional single ventricle and heterotaxy syndrome: does timing affect outcome? (23434253)
2013
20
Heterotaxy Syndrome: Impact of Ventricular Morphology on Resource Utilization. (23797157)
2013
21
Hepatic venous occlusion during cardiopulmonary bypass in patients with heterotaxy syndrome: a safe but underutilized option. (23272890)
2013
22
Heterotaxy and isomerism. (22874430)
2012
23
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
24
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
25
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
26
Visceral heterotaxy in the developing world. (22726404)
2012
27
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
28
Challenges of univentricular physiology in heterotaxy. (23804982)
2011
29
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. (21233261)
2011
30
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
31
Intracardiac Fontan procedure for heterotaxy syndrome with complex systemic and pulmonary venous anomalies. (19695897)
2010
32
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
33
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
34
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. (19064609)
2009
35
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
36
Evaluation of anomalous systemic and pulmonary venous return in a young child with heterotaxy: a case study--implications for military dependent care. (18419039)
2008
37
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
38
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
39
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
40
Incorporation of the hepatic veins into the cavopulmonary circulation in patients with heterotaxy and pulmonary arteriovenous malformations after a Kawashima procedure. (16242423)
2005
41
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
42
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
43
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. (11117404)
2000
44
Situs revisited: imaging of the heterotaxy syndrome. (10464794)
1999
45
Diagnosis of heterotaxy syndrome by fetal echocardiography. (9817503)
1998
46
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. (8873667)
1996
47
Diagnosis of heterotaxy syndrome. (7828322)
1995
48
Radiofrequency ablation of accessory pathways associated with congenital heart disease including heterotaxy syndrome. (8249846)
1993
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
1ACVR2BNM_001106.3(ACVR2B): c.119G> A (p.Arg40His)SNVPathogenicrs121434437GRCh37Chr 3, 38518844: 38518844

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
19.0ACVR2B, NODAL, ZIC3
2
Show member pathways
8.9ACVR2B, CFC1, NODAL
3
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
1pattern specification processGO:00073899.9ACVR2B, ZIC3
2nodal signaling pathwayGO:00380929.8CFC1, NODAL
3regulation of signal transductionGO:00099669.8ACVR2B, NODAL
4positive regulation of activin receptor signaling pathwayGO:00329279.8ACVR2B, NODAL
5gastrulation with mouth forming secondGO:00017029.7ACVR2B, NODAL
6BMP signaling pathwayGO:00305099.6ACVR2B, NODAL
7heart loopingGO:00019479.6NODAL, ZIC3
8gastrulationGO:00073699.4CFC1, NODAL
9anterior/posterior pattern specificationGO:00099529.3ACVR2B, NODAL, ZIC3
10lung developmentGO:00303249.2ACVR2B, NODAL, ZIC3
11determination of left/right symmetryGO:00073687.6ACVR2B, CFC1, MMP21, NODAL, ZIC3

Sources for Heterotaxy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet