MCID: HTR003
MIFTS: 38

Heterotaxy malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Heterotaxy

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Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 45
Heterotaxy Syndrome 45 22 24 65
Lateralization Defect 45
Polysplenia Syndrome 22
Visceral Heterotaxy 45
 
Asplenia Syndrome 22
Ivemark Syndrome 22
Situs Ambiguous 45
Situs Ambiguus 45
Heterotaxia 45


Classifications:



Summaries for Heterotaxy

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MalaCards based summary: Heterotaxy, also known as heterotaxy syndrome, is related to bronchiectasis and visceral heterotaxy. An important gene associated with Heterotaxy is ZIC3 (Zic Family Member 3), and among its related pathways are Cardiac Progenitor Differentiation and . Affiliated tissues include heart, spleen and atrioventricular node, and related mouse phenotypes are skeleton and liver/biliary 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 185)
idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis29.6ACVR2B, NODAL
2visceral heterotaxy10.7
3heterotaxy, visceral, 1, x-linked10.6
4congenital heart disease10.5
5heterotaxy, visceral, 2, autosomal10.5
6heterotaxy, visceral, 4, autosomal10.5
7heterotaxy, visceral, 510.5
8heterotaxy, visceral, 6, autosomal recessive10.4
9cardiac anomalies - heterotaxy10.4
10heterotaxy, visceral, 3, autosomal10.3
11hepatitis10.3
12situs inversus10.3
13child syndrome10.3
14lymphatic system disease10.3
15splenic disease10.3
16kid syndrome10.3
17primary ciliary dyskinesia10.2
18dextrocardia10.2
19acvr2b-related visceral heterotaxy10.2
20cfc1-related visceral heterotaxy10.2
21nodal-related visceral heterotaxy10.2
22zic3-related visceral heterotaxy10.2
23double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy10.2
24hiatus hernia10.2
25annular pancreas10.2
26atrioventricular septal defect10.2
27arteriovenous malformation10.2
28pulmonary arteriovenous malformation10.2
29lefty2-related visceral heterotaxy10.2
30levocardia10.2
31laterality defects dominant10.1
32splenic infarction10.1
33congenital pseudoarthrosis of clavicle10.1
34atrioventricular septal defect 410.1
35heinz body anemia10.1
36atrioventricular septal defect 510.1
37arthritis10.1
38hepatitis c10.1
39basal cell carcinoma10.1
40meningitis10.1
41pulmonary embolism10.1
42renal dysplasia10.1
43duodenitis10.1
44coronary artery disease10.1
45atrioventricular septal defect 210.1
46asplenia, isolated congenital10.1
47total anomalous pulmonary venous return10.1
48holoprosencephaly10.1
49kartagener syndrome10.1
50spondylosis10.1

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
1Kavanutraceutical1239000-38-85281052

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 Syndrome22 24 ZIC3

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

33
Heart, Spleen, Atrioventricular node, Pancreas, B cells

Animal Models for Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Heterotaxy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4ACVR2B, CFC1, NODAL, ZIC3
2MP:00053708.3ACVR2B, CFC1, NODAL, ZIC3
3MP:00053807.8ACVR2B, CFC1, NKX2-5, NODAL, ZIC3
4MP:00053857.7ACVR2B, CFC1, NKX2-5, NODAL, ZIC3
5MP:00107687.6ACVR2B, CFC1, NKX2-5, NODAL, ZIC3
6MP:00053787.5ACVR2B, CFC1, NKX2-5, NODAL, ZIC3
7MP:00053977.5ACVR2B, CFC1, NKX2-5, NODAL, ZIC3
8MP:00053887.4ACVR2B, CFC1, NKX2-5, NODAL, ZIC3
9MP:00053877.2ACVR2B, CFC1, NKX2-5, NODAL, ZIC3

Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 247)
idTitleAuthorsYear
1
Determining bronchial morphology for the purposes of segregating so-called heterotaxy. (26159655)
2015
2
An unusual occurrence: a case of venous thromboembolism in pregnancy associated with heterotaxy syndrome. (26052441)
2015
3
A rare case of heterotaxy and left ventricular non-compaction in an adult. (26323941)
2015
4
Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome. (26571485)
2015
5
Racial disparities in heterotaxy syndrome. (26333177)
2015
6
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. (24793683)
2014
7
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). (24996551)
2014
8
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
9
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
10
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
11
Abnormal atrial rhythm in a heterotaxy syndrome. (23791595)
2013
12
Interstage mortality for functional single ventricle with heterotaxy syndrome: a retrospective study of the clinical experience of a single tertiary center. (23591028)
2013
13
Magnetic resonance angiography in paced complex heterotaxy syndrome with Fontan conduit obstruction and venovenous collateral decompression. (22188762)
2013
14
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
15
An unusual form of supracardiac total anomalous pulmonary venous return via a right-sided vertical vein in a heterotaxy syndrome case. (22354227)
2012
16
Heterotaxy and isomerism. (22874430)
2012
17
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
18
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3a88Mb deletion encompassing GLI2. (22106008)
2012
19
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. (21864452)
2012
20
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
21
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
22
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (21858219)
2011
23
Heterotaxy: lessons learned about patterns of practice and outcomes from the congenital heart surgery database of the society of thoracic surgeons. (23804985)
2011
24
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
25
Heterotaxy syndrome: implications for anesthesia management. (20421166)
2010
26
A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. (20581739)
2010
27
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
28
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
29
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
30
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
31
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
32
Images in cardiovascular medicine. Extracardiac venous heterotaxy syndrome: complete noninvasive diagnosis by multimodality imaging. (18574050)
2008
33
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
34
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
35
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
36
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
37
Heterotaxy syndrome -- asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. (16113522)
2005
38
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
39
Sequence of right laterality with spleen: widening the spectrum of heterotaxy. (12396901)
2002
40
Heterotaxy syndrome with severe pulmonary hypertension in an adult. (12005012)
2002
41
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
42
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
43
Extracardiac conduit Fontan for children with heterotaxy and functionally single ventricle. (9855102)
1998
44
Diagnosis of heterotaxy syndrome by fetal echocardiography. (9817503)
1998
45
Diagnosis of heterotaxy syndrome. (7828322)
1995
46
Technetium-99m-sulfur colloid SPECT imaging in infants with suspected heterotaxy syndrome. (7629579)
1995
47
Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or normally formed spleen: an erroneous concept. (2252000)
1990
48
Splenic scintigraphy and radionuclide venography in the heterotaxy syndrome. (4695908)
1973
49
ISOLATED HETEROTAXY OF THE STOMACH. (14139900)
1964
50
Congenital heart disease associated with subdiaphragmatic lateral heterotaxy. (15411467)
1950

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3NKX2-5, NODAL
2
TGF-beta signaling pathway (KEGG)
Show member pathways
9.0NKX2-5, NODAL
3
Show member pathways
8.6ACVR2B, CFC1, NKX2-5
48.6ACVR2B, NODAL, ZIC3
5
Show member pathways
8.5ACVR2B, CFC1, NODAL
6
Show member pathways
8.1ACVR2B, 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 14)
idNameGO IDScoreTop Affiliating Genes
1embryonic heart tube developmentGO:00350509.9NKX2-5, NODAL
2nodal signaling pathwayGO:00380929.9CFC1, NODAL
3gastrulationGO:00073699.6CFC1, NODAL
4positive regulation of activin receptor signaling pathwayGO:00329279.6ACVR2B, NODAL
5pattern specification processGO:00073899.6ACVR2B, ZIC3
6gastrulation with mouth forming secondGO:00017029.6ACVR2B, NODAL
7regulation of signal transductionGO:00099669.4ACVR2B, NODAL
8heart loopingGO:00019479.3NKX2-5, NODAL, ZIC3
9BMP signaling pathwayGO:00305099.3ACVR2B, NKX2-5
10anterior/posterior pattern specificationGO:00099528.9ACVR2B, NODAL, ZIC3
11lung developmentGO:00303248.8ACVR2B, NODAL, ZIC3
12negative regulation of transcription from RNA polymerase II promoterGO:00001228.5ACVR2B, NKX2-5, NODAL
13heart developmentGO:00075078.4ACVR2B, NKX2-5, NODAL
14determination of left/right symmetryGO:00073687.8ACVR2B, CFC1, NODAL, ZIC3

Sources for Heterotaxy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet