MCID: HTR003
MIFTS: 48

Heterotaxy malady

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

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

MalaCards based summary: Heterotaxy, also known as heterotaxy syndrome, is related to congenital heart disease and heterotaxy, visceral, 2, autosomal. An important gene associated with Heterotaxy is ZIC3 (Zic family member 3), and among its related pathways are Potassium transporters inward current and Signaling by NODAL. Affiliated tissues include thyroid, heart and spleen, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Aliases & Classifications for Heterotaxy

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Heterotaxy, Aliases & Descriptions:

Name: Heterotaxy 42
Heterotaxy Syndrome 42 20 22 62
Thyroid Hormone Plasma Membrane Transport Defect 62
Lateralization Defect 42
Visceral Heterotaxia 62
 
Visceral Heterotaxy 42
Situs Ambiguous 42
Situs Ambiguus 42
Heterotaxia 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Related Diseases for Heterotaxy

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease31.0GJA1, ZIC3
2heterotaxy, visceral, 2, autosomal31.0CFC1, HTX2
3atrioventricular septal defect30.8CRELD1
4double outlet right ventricle30.8CFC1, HTX2
5situs inversus30.6CCDC11, DNAH5, ZIC3
6holoprosencephaly30.5NODAL, ZIC5
7visceral heterotaxy10.7
8x-linked visceral heterotaxy 110.5
9transposition of the great arteries, dextro-looped 210.4CFC1, HTX2
10hepatitis10.4
11heterotaxy, visceral, 4, autosomal10.3
12heterotaxy, visceral, 510.3
13intestinal volvulus10.2
14primary ciliary dyskinesia10.2
15arteriovenous malformation10.2
16ivemark syndrome10.2
17pulmonary arteriovenous malformation10.2
18zic3-related visceral heterotaxy10.2
19cfc1-related visceral heterotaxy10.2
20sudden cardiac death multi-gene panels10.2KCNE1, GJA1
21splenic infarction10.1
22congenital pseudoarthrosis of clavicle10.1
23hypertension10.1
24atrioventricular block10.1
25pancreatitis10.1
26aortic coarctation10.1
27congenital extrahepatic portosystemic shunt10.1
28nodal-related visceral heterotaxy10.1
29acvr2b-related visceral heterotaxy10.1
30lefty2-related visceral heterotaxy10.1
31atrioventricular septal defect, partial, with heterotaxy syndrome10.1
32heterotaxy, visceral, 3, autosomal10.1
33heterotaxy, visceral, 6, autosomal recessive10.1
34cardiac anomalies - heterotaxy10.1
35levocardia10.1
36laterality defects dominant10.1
37craniorachischisis9.9
38johanson-blizzard syndrome9.9
39smith-lemli-opitz syndrome9.9
40polydactyly9.9
41poland syndrome9.9
42hallermann-streiff syndrome9.9
43ellis-van creveld syndrome9.9
44wolf-hirschhorn syndrome9.9
45renpenning syndrome9.9
46esophageal atresia9.9
47esophagitis9.9
48autosomal dominant alport syndrome9.9
49chylous ascites9.9
50colonic atresia9.9

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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Drug clinical trials:

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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 Syndrome20 22 ZIC3
2 Heterotaxy Multi-Gene Panels20

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

32
Thyroid, Heart, Spleen, Pancreas, Atrioventricular node

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 210)
idTitleAuthorsYear
1
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. (24793683)
2014
2
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). (24996551)
2014
3
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
4
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
5
Novel copy-number variants in a population-based investigation of classic heterotaxy. (25232849)
2014
6
Abnormal atrial rhythm in a heterotaxy syndrome. (23791595)
2013
7
Interstage mortality for functional single ventricle with heterotaxy syndrome: a retrospective study of the clinical experience of a single tertiary center. (23591028)
2013
8
Magnetic resonance angiography in paced complex heterotaxy syndrome with Fontan conduit obstruction and venovenous collateral decompression. (22188762)
2013
9
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
10
An unusual form of supracardiac total anomalous pulmonary venous return via a right-sided vertical vein in a heterotaxy syndrome case. (22354227)
2012
11
Heterotaxy and isomerism. (22874430)
2012
12
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
13
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3a88Mb deletion encompassing GLI2. (22106008)
2012
14
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. (21864452)
2012
15
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
16
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
17
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (21858219)
2011
18
Heterotaxy: lessons learned about patterns of practice and outcomes from the congenital heart surgery database of the society of thoracic surgeons. (23804985)
2011
19
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
20
Challenges of univentricular physiology in heterotaxy. (23804982)
2011
21
Heterotaxy syndrome: implications for anesthesia management. (20421166)
2010
22
A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. (20581739)
2010
23
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
24
Intracardiac Fontan procedure for heterotaxy syndrome with complex systemic and pulmonary venous anomalies. (19695897)
2010
25
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
26
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
27
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
28
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
29
Images in cardiovascular medicine. Extracardiac venous heterotaxy syndrome: complete noninvasive diagnosis by multimodality imaging. (18574050)
2008
30
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
31
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
32
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
33
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
34
Heterotaxy syndrome -- asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. (16113522)
2005
35
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
36
Sequence of right laterality with spleen: widening the spectrum of heterotaxy. (12396901)
2002
37
Heterotaxy syndrome with severe pulmonary hypertension in an adult. (12005012)
2002
38
Intrauterine diagnosis of heterotaxy syndrome. (12075255)
2002
39
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
40
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
41
Extracardiac conduit Fontan for children with heterotaxy and functionally single ventricle. (9855102)
1998
42
Diagnosis of heterotaxy syndrome by fetal echocardiography. (9817503)
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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Expression patterns in normal tissues for genes affiliated with Heterotaxy

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Pathways for genes affiliated with Heterotaxy

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Compounds for genes affiliated with Heterotaxy

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GO Terms for genes affiliated with Heterotaxy

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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 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:03292710.1ACVR2B, NODAL
2heart loopingGO:0019479.8NOTCH1, NODAL, ZIC3
3lung developmentGO:0303249.7NOTCH1, ZIC3, ACVR2B
4cilium morphogenesisGO:0602719.6NOTCH1, GALNT11
5Notch signaling involved in heart developmentGO:0613149.5GALNT11, NOTCH1
6Notch receptor processingGO:0072209.4ADAM17, GALNT11, NOTCH1
7heart developmentGO:0075079.3NOTCH1, GJA1, ACVR2B
8determination 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
  • Proteins
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Sources for Heterotaxy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet