MCID: HTR003
MIFTS: 46

Heterotaxy malady

Cardiovascular, Fetal, Endocrine categories

Summaries for Heterotaxy

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 heterotaxy, visceral, 2, autosomal and situs inversus. An important gene associated with Heterotaxy is NODAL (nodal growth differentiation factor), and among its related pathways are Axon guidance and PKA activation in glucagon signalling. Affiliated tissues include spleen, heart and pancreas, and related mouse phenotypes are liver/biliary system and respiratory system.

Aliases & Classifications for Heterotaxy

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Endocrine


Aliases & Descriptions:

heterotaxy 43
heterotaxy syndrome 43 20 22 61
situs ambiguous 43 49
situs ambiguus 43 49
thyroid hormone plasma membrane transport defect 61
incomplete situs inversus 49
partial situs inversus 49
lateralization defect 43
heterotaxia 43


External Ids:

ICD10 via Orphanet26 Q89.3
SNOMED-CT via Orphanet58 14821001
UMLS via Orphanet62 C0266642, C1167664

Related Diseases for Heterotaxy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Heterotaxy family:

visceral heterotaxy heterotaxy, visceral, 5

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

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 2, autosomal30.3CFC1, HTX2
2situs inversus30.2LEFTY2, ZIC3, CCDC11, DNAH5
3atrioventricular septal defect30.2GJA1, NKX2-5, CRELD1
4holoprosencephaly30.0NODAL, ZIC5
5dextrocardia29.8ACVR2B
6ventricular septal defect29.8NKX2-5, CFC1
7visceral heterotaxy10.7
8thyroid hormone plasma membrane transport defect10.6
9x-linked visceral heterotaxy 110.5
10patent foramen ovale10.4
11glanzmann's thrombasthenia10.4
12takayasu's arteritis10.4
13congenital diaphragmatic hernia10.4
14atrial heart septal defect10.4
15urea cycle disorder10.4
16hereditary folate malabsorption10.4
17zap70-related severe combined immunodeficiency10.4
18acro-pectoro-renal field defect10.4
19ankle defects short stature10.4
20axial mesodermal dysplasia spectrum10.4
21branchial arch defects10.4
22cardioskeletal syndrome kuwaiti type10.4
23sacral defect with anterior meningocele10.4
24caudal regression syndrome10.4
25chylomicron retention disease10.4
26x-linked creatine deficiency10.4
27cystinosis, ocular nonnephropathic10.4
28hmg coa lyase deficiency10.4
29imerslund-grasbeck syndrome10.4
30defective apolipoprotein b-10010.4
31diaphragmatic hernia upper limb defects10.4
32peroxisome disorders10.4
33heart defect, tongue hamartoma and polysyndactyly10.4
34hermansky pudlak syndrome 210.4
35red cell phospholipid defect with hemolysis10.4
36hyperthermia induced defects10.4
37lateral body wall defect10.4
38limb reduction defect10.4
39overgrowth radial ray defect arthrogryposis10.4
40paraomphalocele10.4
41reductional transverse limb defects10.4
42renal agenesis meningomyelocele mullerian defect10.4
43trigonomacrocephaly tibial defect polydactyly10.4
44thyroid hormonogenesis defect i10.4
45combined oxidative phosphorylation deficiency 210.4
46combined oxidative phosphorylation deficiency 510.4
47combined oxidative phosphorylation deficiency 410.4
48combined oxidative phosphorylation deficiency 710.4
49combined oxidative phosphorylation deficiency 810.4
50combined oxidative phosphorylation deficiency 1010.4

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to heterotaxy

Clinical Features for Heterotaxy

Drugs & Therapeutics for Heterotaxy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Heterotaxy

Drug clinical trials:

Search ClinicalTrials for Heterotaxy

Search NIH Clinical Center for Heterotaxy

Search CenterWatch for Heterotaxy

Genetic Tests for Heterotaxy

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Heterotaxy:

33
Spleen, Heart, Pancreas, Thyroid, Atrioventricular node

Animal Models for Heterotaxy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Heterotaxy

Sources:
51PubMed
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Articles related to Heterotaxy:

(show top 50)    (show all 194)
idTitleAuthorsYear
1
Heterotaxy syndromes and abnormal bowel rotation. (24419494)
2014
2
Abnormal atrial rhythm in a heterotaxy syndrome. (23791595)
2013
3
Magnetic resonance angiography in paced complex heterotaxy syndrome with Fontan conduit obstruction and venovenous collateral decompression. (22188762)
2013
4
Heterotaxy Syndrome: Impact of Ventricular Morphology on Resource Utilization. (23797157)
2013
5
Heterotaxy syndrome: is a prophylactic Ladd procedure necessary in asymptomatic patients? (22644418)
2013
6
Magnetic navigation in adults with atrial isomerism (heterotaxy syndrome) and supraventricular arrhythmias. (23355132)
2013
7
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3a88Mb deletion encompassing GLI2. (22106008)
2012
8
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
9
Visceral heterotaxy in the developing world. (22726404)
2012
10
Visceral heterotaxy and malrotation in a neonate. (22411653)
2012
11
An uncommon course of the right superior vena cava in a patient with heterotaxy syndrome. (23804697)
2012
12
Tachycardia associated with twin atrioventricular nodes in an infant with heterotaxy and interruption of inferior vena cava. (22670783)
2012
13
Human heterotaxy syndrome a89 from molecular genetics to clinical features, management, and prognosis a89 . (22864291)
2012
14
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (21858219)
2011
15
Echocardiography in heterotaxy syndrome. (23804981)
2011
16
Surgical management of the neonate with heterotaxy and long-term outcomes of heterotaxy. (23804983)
2011
17
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. (21936905)
2011
18
Heterotaxy syndrome: implications for anesthesia management. (20421166)
2010
19
Improving results of atrioventricular valve repair in challenging patients with heterotaxy syndrome. (20199706)
2010
20
Heterotaxy syndrome: defining contemporary disease trends. (20730421)
2010
21
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
22
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
23
Heterotaxy syndrome (mirror-image dextrocardia, coarctation of the aorta, polysplenia): a previously unreported association. (19449056)
2009
24
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
25
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. (18037990)
2007
26
Functional state of patients with heterotaxy syndrome following the Fontan operation. (18039398)
2007
27
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
28
Heterotaxy syndrome with functional single ventricle: does prenatal diagnosis improve survival? (17062216)
2006
29
Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. (16496285)
2006
30
Spectrum of cardiovascular disease, accuracy of diagnosis, and outcome in fetal heterotaxy syndrome. (16490445)
2006
31
Heterotaxy syndrome with azygous continuation-causing pseudo Budd-Chiari syndrome after cardiopulmonary bypass. (16631699)
2006
32
Visceral heterotaxy, isomerism, and splenic structure. (16164784)
2005
33
Surgical management of an extracardiac total cavopulmonary connection in heterotaxy syndrome with isolated hepatic drainage. (15875102)
2005
34
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. (14681828)
2004
35
Heterotaxy syndrome with pancreatic malrotation: CT features. (14753606)
2003
36
Pulmonary venous obstruction after total cavopulmonary connection in heterotaxy. (11834022)
2002
37
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
38
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. (11117404)
2000
39
Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. (12000048)
2000
40
Two apparent suprarenal masses. Two cases in children: heterotaxy syndrome with spleen lying in suprarenal space and gastric duplication cyst lying in suprarenal space. (10876825)
2000
41
Atrial structure in the presence of visceral heterotaxy. (10950326)
2000
42
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. (11045684)
2000
43
Isomeric arrangement of the left atrial appendages and visceral heterotaxy: two atypical cases. (10817298)
2000
44
Extracardiac conduit Fontan for children with heterotaxy and functionally single ventricle. (9855102)
1998
45
Usefulness of electron beam computed tomography in children with heterotaxy syndrome. (9591903)
1998
46
Technetium-99m-sulfur colloid SPECT imaging in infants with suspected heterotaxy syndrome. (7629579)
1995
47
Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. (7564430)
1995
48
Visceroatrial heterotaxy syndrome in the NOD mouse with special reference to atrial situs. (1957268)
1991
49
An approach to cardiac malposition and the heterotaxy syndrome using 99mTc sulfur colloid imaging. (998814)
1976
50
Splenic scintigraphy and radionuclide venography in the heterotaxy syndrome. (4695908)
1973

Genetic Variations for Heterotaxy

Expression for genes affiliated with Heterotaxy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Heterotaxy

Search GEO for disease gene expression data for Heterotaxy.

Pathways for genes affiliated with Heterotaxy

Sources:
54Reactome, 12EMD Millipore, 30KEGG
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Pathways related to Heterotaxy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8NODAL, ACVR2B, CFC1
2
Hide members
9.8ACVR2B, NODAL, LEFTY2
39.8LEFTY2, NODAL, ACVR2B
4
Hide members
9.5LEFTY2, ACVR2B, NODAL, CFC1

Compounds for genes affiliated with Heterotaxy

GO Terms for genes affiliated with Heterotaxy

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.3GJA1, UVRAG, KCNE1

Biological processes related to Heterotaxy according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:03292710.3ACVR2B, NODAL
2nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:190016410.2CITED2, NODAL
3embryonic process involved in female pregnancyGO:06013610.2NODAL, CITED2
4embryonic heart tube left/right pattern formationGO:06097110.1CITED2, NKX2-5
5positive regulation of cell-cell adhesionGO:02240910.1CITED2, NODAL
6endocardial cushion developmentGO:00319710.1CITED2, CRELD1
7epithelial cell maturationGO:00207010.0GJA1, KCNE1
8adult heart developmentGO:00751210.0NKX2-5, GJA1
9regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.9KCNE1, GJA1
10ventricular septum morphogenesisGO:0604129.9NKX2-5, CITED2
11spleen developmentGO:0485369.9NKX2-5, CITED2
12determination of left/right symmetryGO:0073689.8ZIC3, CITED2, CFC1, ACVR2B
13embryonic placenta developmentGO:0018929.7NODAL, CITED2
14heart developmentGO:0075079.5CITED2, GJA1, ACVR2B
15neural tube closureGO:0018439.5ZIC5, CITED2, SHROOM3
16heart loopingGO:0019479.5NODAL, GJA1, NKX2-5, CITED2, ZIC3

Products for genes affiliated with Heterotaxy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Heterotaxy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet