MCID: HTR003
MIFTS: 40

Heterotaxy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Heterotaxy

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Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 45 23
Heterotaxy Syndrome 45 22 23 24 65
Visceral Heterotaxy 45 23
Asplenia Syndrome 22 65
Ivemark Syndrome 22 23
Situs Ambiguus 45 23
Heterotaxy, Visceral, 2, Autosomal 65
Situs Ambiguus Viscerum 23
 
Lateralization Defect 45
Polysplenia Syndrome 22
Situs Ambiguous 45
Right Isomerism 23
Left Isomerism 23
Heterotaxia 45
Htx 23

Classifications:



External Ids:

UMLS65 C3178805, C0175707, C1415817

Summaries for Heterotaxy

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Genetics Home Reference:23 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 congenital heart disease and heterotaxy, visceral, 1, x-linked. 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, liver and spleen.

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 79)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.1CFC1, NODAL
2heterotaxy, visceral, 1, x-linked12.1
3heterotaxy, visceral, 2, autosomal12.1
4heterotaxy, visceral, 4, autosomal12.1
5heterotaxy, visceral, 6, autosomal recessive12.1
6heterotaxy, visceral, 512.1
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
17atrioventricular septal defect 211.0
18right atrial isomerism10.9
19heart disease10.3
20hepatitis10.2
21asplenia, isolated congenital10.0
22renal-hepatic-pancreatic dysplasia10.0
23primary ciliary dyskinesia10.0
24atrioventricular septal defect10.0
25situs inversus10.0
26neovascular glaucoma10.0CFC1, ZIC3
27arteriovenous malformation10.0
28pulmonary arteriovenous malformation10.0
29levocardia10.0
30agenesis of the dorsal pancreas9.9
31total anomalous pulmonary venous return9.9
32holoprosencephaly9.9
33atrioventricular block9.9
34pancreatitis9.9
35dextrocardia9.9
36aortic coarctation9.9
37congenital extrahepatic portosystemic shunt9.9
38isolated levocardia9.9
39cardiomyopathy9.9
40adult t-cell leukemia9.9
41hydrocephalus9.9
42leukemia9.9
43retinitis9.9
44t-cell leukemia9.9
45congenital hydrocephalus9.9
46intermediate maple syrup urine disease9.9
47congenital heart block9.8
48choanal atresia9.7ACVR2B, NODAL
49neural tube defects9.7
50budd-chiari syndrome9.7

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 Extracts3572
2Kavanutraceutical1329000-38-85281052

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 ZIC3

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

33
Heart, Liver, Spleen, Lung, Thyroid, Prostate, Bone

Animal Models for Heterotaxy or affiliated genes

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Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 263)
idTitleAuthorsYear
1
The concept of "palliation" in children with heterotaxy syndrome. (27085619)
2016
2
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. (26982535)
2016
3
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. (26777936)
2016
4
Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management. (26714995)
2016
5
Determining bronchial morphology for the purposes of segregating so-called heterotaxy. (26159655)
2015
6
An unusual occurrence: a case of venous thromboembolism in pregnancy associated with heterotaxy syndrome. (26052441)
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
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. (24793683)
2014
10
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). (24996551)
2014
11
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
12
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
13
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
14
Abnormal atrial rhythm in a heterotaxy syndrome. (23791595)
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
Magnetic resonance angiography in paced complex heterotaxy syndrome with Fontan conduit obstruction and venovenous collateral decompression. (22188762)
2013
17
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
18
An unusual form of supracardiac total anomalous pulmonary venous return via a right-sided vertical vein in a heterotaxy syndrome case. (22354227)
2012
19
Heterotaxy and isomerism. (22874430)
2012
20
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
21
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3a88Mb deletion encompassing GLI2. (22106008)
2012
22
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. (21864452)
2012
23
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
24
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (21858219)
2011
25
Heterotaxy: lessons learned about patterns of practice and outcomes from the congenital heart surgery database of the society of thoracic surgeons. (23804985)
2011
26
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
27
Heterotaxy syndrome: implications for anesthesia management. (20421166)
2010
28
A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. (20581739)
2010
29
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
30
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
31
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
32
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
33
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
34
Images in cardiovascular medicine. Extracardiac venous heterotaxy syndrome: complete noninvasive diagnosis by multimodality imaging. (18574050)
2008
35
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
36
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
37
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
38
Heterotaxy syndrome -- asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. (16113522)
2005
39
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
40
Sequence of right laterality with spleen: widening the spectrum of heterotaxy. (12396901)
2002
41
Heterotaxy syndrome with severe pulmonary hypertension in an adult. (12005012)
2002
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 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 9)
idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:00099529.8NODAL, ZIC3
2gastrulation with mouth forming secondGO:00017029.8ACVR2B, NODAL
3positive regulation of activin receptor signaling pathwayGO:00329279.6ACVR2B, NODAL
4pattern specification processGO:00073899.6ACVR2B, ZIC3
5regulation of signal transductionGO:00099669.5ACVR2B, NODAL
6BMP signaling pathwayGO:00305099.5ACVR2B, NODAL
7heart developmentGO:00075079.3ACVR2B, NODAL
8lung developmentGO:00303249.3ACVR2B, NODAL
9determination of left/right symmetryGO:00073689.1ACVR2B, 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