MCID: HTR003
MIFTS: 51

Heterotaxy malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases, Endocrine diseases categories
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Summaries for Heterotaxy

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65Wikipedia, 33MalaCards
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Wikipedia:65 Situs ambiguus or situs ambiguous (the former spelling is more correct etymologically, but the latter... more...

MalaCards: Heterotaxy, also known as heterotaxy syndrome, is related to congenital heart disease and heterotaxy, visceral, 2, autosomal. An important gene associated with Heterotaxy is NODAL (nodal growth differentiation factor), and among its related pathways are Ca-dependent events and TGF-beta Signaling Pathway. Affiliated tissues include thyroid, heart and spleen, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Aliases & Classifications for Heterotaxy

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43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Aliases & Descriptions:

heterotaxy 43
heterotaxy syndrome 43 20 22 62
situs ambiguous 43 49
situs ambiguus 43 49
thyroid hormone plasma membrane transport defect 62
incomplete situs inversus 49
partial situs inversus 49
lateralization defect 43
visceral heterotaxy 43
heterotaxia 43


External Ids:

ICD10 via Orphanet26 Q89.3
SNOMED-CT via Orphanet59 14821001
UMLS via Orphanet63 C0266642, C1167664

Related Diseases for Heterotaxy

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17GeneCards, 18GeneDecks
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Diseases related to Heterotaxy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.8ZIC3
2heterotaxy, visceral, 2, autosomal30.5CFC1, HTX2
3atrioventricular septal defect30.4CRELD1
4double outlet right ventricle30.4HTX2, CFC1
5situs inversus30.3ZIC3, DNAH5, CCDC11, LEFTY2
6holoprosencephaly30.1ZIC5, NODAL
7visceral heterotaxy10.7
8x-linked visceral heterotaxy 110.5
9duodenitis10.4
10duodenal obstruction10.4
11hepatitis10.3
12annular pancreas10.3
13heterotaxy, visceral, 4, autosomal10.3
14heterotaxy, visceral, 510.3
15acvr2b-related visceral heterotaxy10.2
16heterotaxy, visceral, 6, autosomal recessive10.2
17peritonitis10.2
18intestinal volvulus10.2
19arteriovenous malformation10.2
20ivemark syndrome10.2
21pulmonary arteriovenous malformation10.2
22zic3-related visceral heterotaxy10.2
23cfc1-related visceral heterotaxy10.2
24nodal-related visceral heterotaxy10.2
25levocardia10.2
26transposition of the great arteries, dextro-looped 210.1CFC1, HTX2
27splenic infarction10.1
28congenital pseudoarthrosis of clavicle10.1
29hypertension10.1
30pancreatitis10.1
31aortic coarctation10.1
32congenital extrahepatic portosystemic shunt10.1
33isolated levocardia10.1
34lefty2-related visceral heterotaxy10.1
35atrioventricular septal defect, partial, with heterotaxy syndrome10.1
36heterotaxy, visceral, 3, autosomal10.1
37cardiac anomalies - heterotaxy10.1
38laterality defects dominant10.0
39sudden cardiac death multi-gene panels10.0KCNE1, GJA1
40polydactyly9.9
41renpenning syndrome9.9
42poland syndrome9.9
43hallermann-streiff syndrome9.9
44lymphocele9.9
45ellis-van creveld syndrome9.9
46wolf-hirschhorn syndrome9.9
47smith-lemli-opitz syndrome9.9
48johanson-blizzard syndrome9.9
49cervicitis9.9
50autosomal dominant alport syndrome9.9

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

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20GeneTests, 22GTR
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Genetic tests related to Heterotaxy:

id Genetic test Affiliating Genes
1 Heterotaxy Syndrome20 22 ZIC3
2 Heterotaxy Multi-Gene Panels20

Anatomical Context for Heterotaxy

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33MalaCards
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MalaCards organs/tissues related to Heterotaxy:

33
Thyroid, Heart, Spleen, Pancreas, Atrioventricular node

Animal Models for Heterotaxy or affiliated genes

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37MGI
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Publications for Heterotaxy

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52PubMed
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Articles related to Heterotaxy:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
2
Abnormal atrial rhythm in a heterotaxy syndrome. (23791595)
2013
3
Interstage mortality for functional single ventricle with heterotaxy syndrome: a retrospective study of the clinical experience of a single tertiary center. (23591028)
2013
4
Magnetic resonance angiography in paced complex heterotaxy syndrome with Fontan conduit obstruction and venovenous collateral decompression. (22188762)
2013
5
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
6
An unusual form of supracardiac total anomalous pulmonary venous return via a right-sided vertical vein in a heterotaxy syndrome case. (22354227)
2012
7
Heterotaxy and isomerism. (22874430)
2012
8
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
9
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3a88Mb deletion encompassing GLI2. (22106008)
2012
10
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. (21864452)
2012
11
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
12
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
13
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (21858219)
2011
14
Heterotaxy: lessons learned about patterns of practice and outcomes from the congenital heart surgery database of the society of thoracic surgeons. (23804985)
2011
15
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
16
Challenges of univentricular physiology in heterotaxy. (23804982)
2011
17
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. (21233261)
2011
18
Cavopulmonary pathway modification in patients with heterotaxy and newly diagnosed or persistent pulmonary arteriovenous malformations after a modified Fontan operation. (21146835)
2011
19
Heterotaxy syndrome: implications for anesthesia management. (20421166)
2010
20
A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. (20581739)
2010
21
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
22
Intracardiac Fontan procedure for heterotaxy syndrome with complex systemic and pulmonary venous anomalies. (19695897)
2010
23
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
24
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
25
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
26
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
27
Images in cardiovascular medicine. Extracardiac venous heterotaxy syndrome: complete noninvasive diagnosis by multimodality imaging. (18574050)
2008
28
Evaluation of anomalous systemic and pulmonary venous return in a young child with heterotaxy: a case study--implications for military dependent care. (18419039)
2008
29
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
30
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
31
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
32
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
33
Heterotaxy syndrome -- asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. (16113522)
2005
34
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
35
Sequence of right laterality with spleen: widening the spectrum of heterotaxy. (12396901)
2002
36
Heterotaxy syndrome with severe pulmonary hypertension in an adult. (12005012)
2002
37
Intrauterine diagnosis of heterotaxy syndrome. (12075255)
2002
38
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
39
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
40
Extracardiac conduit Fontan for children with heterotaxy and functionally single ventricle. (9855102)
1998
41
Diagnosis of heterotaxy syndrome by fetal echocardiography. (9817503)
1998
42
Connexin43 gene mutations and heterotaxy. (9443444)
1998
43
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. (8873667)
1996
44
Diagnosis of heterotaxy syndrome. (7828322)
1995
45
Technetium-99m-sulfur colloid SPECT imaging in infants with suspected heterotaxy syndrome. (7629579)
1995
46
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. (1959204)
1991
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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Expression for genes affiliated with Heterotaxy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Heterotaxy

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Pathways for genes affiliated with Heterotaxy

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50PathCards, 55Reactome, 60Thomson Reuters, 57SinoBiological, 30KEGG
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Pathways related to Heterotaxy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8NODAL, ACVR2B, LEFTY2
2
Show member pathways
9.8LEFTY2, ACVR2B, NODAL
3
Show member pathways
9.8NOTCH1, ADAM17
4
Show member pathways
9.8NOTCH1, ADAM17
5
Show member pathways
9.6NODAL, ACVR2B, LEFTY2, CFC1
6
Show member pathways
9.2CFC1, LEFTY2, ACVR2B, NODAL, NOTCH1

Compounds for genes affiliated with Heterotaxy

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GO Terms for genes affiliated with Heterotaxy

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16Gene Ontology
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Cellular components related to Heterotaxy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.5ADAM17, SHROOM3, KCNE1
2lysosomeGO:0057648.8GJA1, UVRAG, KCNE1

Biological processes related to Heterotaxy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:03292710.1NODAL, ACVR2B
2heart loopingGO:0019479.8ZIC3, NODAL, NOTCH1
3heart developmentGO:0075079.6NOTCH1, GJA1, ACVR2B
4lung developmentGO:0303249.6ACVR2B, ZIC3, NOTCH1
5Notch receptor processingGO:0072209.3NOTCH1, GALNT11, ADAM17
6Notch signaling involved in heart developmentGO:0613149.3NOTCH1, GALNT11
7determination of left/right symmetryGO:0073689.1NOTCH1, GALNT11, ZIC3, ACVR2B, CFC1

Molecular functions related to Heterotaxy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:0051129.6GALNT11, ADAM17
2SH3 domain bindingGO:0171248.7GJA1, UVRAG, ADAM17

Products for genes affiliated with Heterotaxy

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  • Antibodies
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Sources for Heterotaxy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet