MCID: VSC013
MIFTS: 39

Visceral Heterotaxy malady

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Visceral Heterotaxy

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Sources:
11Disease Ontology, 13DISEASES, 52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Visceral Heterotaxy:

Name: Visceral Heterotaxy 11 13
Situs Ambiguus 11 52
Incomplete Situs Inversus 52
 
Partial Situs Inversus 52
Situs Ambiguous 52
Heterotaxia 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050545
Orphanet52 ORPHA157769
ICD10 via Orphanet29 Q89.3
UMLS via Orphanet67 C0266642, C1167664

Summaries for Visceral Heterotaxy

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Disease Ontology:11 A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.

MalaCards based summary: Visceral Heterotaxy, also known as situs ambiguus, is related to acvr2b-related visceral heterotaxy and cfc1-related visceral heterotaxy. An important gene associated with Visceral Heterotaxy is CFAP53 (Cilia And Flagella Associated Protein 53), and among its related pathways are Signaling pathways regulating pluripotency of stem cells and Signaling by NODAL. Affiliated tissues include heart and spleen, and related mouse phenotypes are liver/biliary system and craniofacial.

Related Diseases for Visceral Heterotaxy

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Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 2, Autosomal Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 5
Heterotaxy, Visceral, 6, Autosomal Recessive Acvr2b-Related Visceral Heterotaxy
Cfc1-Related Visceral Heterotaxy Lefty2-Related Visceral Heterotaxy
Nodal-Related Visceral Heterotaxy Zic3-Related Visceral Heterotaxy
Heterotaxy, Visceral, 7, Autosomal

Diseases related to Visceral Heterotaxy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1acvr2b-related visceral heterotaxy12.1
2cfc1-related visceral heterotaxy12.1
3nodal-related visceral heterotaxy12.1
4zic3-related visceral heterotaxy12.1
5lefty2-related visceral heterotaxy12.1
6heterotaxy11.7
7heterotaxy, visceral, 1, x-linked11.5
8heterotaxy, visceral, 2, autosomal11.5
9heterotaxy, visceral, 4, autosomal11.5
10d-glycericacidemia10.6CFAP53, MMP21, NODAL
11encircling double aortic arch10.5ACVR2B, CFAP53
12neuroendocrine tumor10.5CFC1, NODAL, ZIC3
13gallbladder disease10.4INVS, NODAL, NPHP3
14dhdds-cdg10.3CFAP53, CFC1, PITX2, ZIC3
15hhv-6 encephalitis10.3ACVR2B, CFAP53, CFC1, MMP21, NODAL, ZIC3
16heterotaxy, visceral, 510.3
17bamforth-lazarus syndrome10.3DNAAF1, DNAH11, DNAH5, DNAI1
18neonatal candidiasis10.3ACVR2B, DNAH11, DNAH5, DNAI1, NODAL
19feingold syndrome10.3ACVR2B, LEFTY2
20heterotaxy, visceral, 6, autosomal recessive10.2
21heterotaxy, visceral, 7, autosomal10.2
22levocardia10.1
23heterotaxy, visceral, 3, autosomal10.1
24isolated levocardia10.0
25bacteremia9.9
26dilated cardiomyopathy9.9
27heart disease9.9
28ventricular septal defect9.9
29congenital heart disease9.9
30vascular disease9.9
31situs inversus9.9
32cardiomyopathy9.9
33aneurysm9.9
34univentricular heart9.9
35choanal atresia9.6CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
36keratoconus9.5CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
37pseudoarthrosis9.5CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
38subglottis verrucous carcinoma9.3CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5
39hereditary sensory neuropathy8.0ACVR2B, CCDC39, CCDC40, CFAP53, CFC1, DNAAF1

Graphical network of the top 20 diseases related to Visceral Heterotaxy:



Diseases related to visceral heterotaxy

Symptoms for Visceral Heterotaxy

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Drugs & Therapeutics for Visceral Heterotaxy

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Drugs for Visceral Heterotaxy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1KavaNutraceutical1379000-38-8

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 Visceral Heterotaxy

Genetic Tests for Visceral Heterotaxy

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Anatomical Context for Visceral Heterotaxy

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MalaCards organs/tissues related to Visceral Heterotaxy:

34
Heart, Spleen

Animal Models for Visceral Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Visceral Heterotaxy:

39 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5ACVR2B, CCDC39, DNAH11, DNAH5, INVS, LEFTY2
2MP:00053829.4CCDC39, DNAH11, DNAH5, DNAI1, MMP21, NODAL
3MP:00053819.4CCDC39, DNAH11, DNAH5, INVS, LEFTY2, MMP21
4MP:00053679.3ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, INVS
5MP:00053879.2ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, INVS
6MP:00053809.2ACVR2B, CCDC40, DNAH11, INVS, LEFTY2, NODAL
7MP:00053849.2ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
8MP:00053979.1ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, INVS
9MP:00053889.0ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
10MP:00036318.9CCDC40, DNAH5, DNAI1, LEFTY2, NODAL, NPHP3
11MP:00053908.8ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, MMP21
12MP:00053858.7ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, INVS
13MP:00107688.3ACVR2B, CCDC39, CCDC40, DNAH5, DNAI1, INVS
14MP:00053787.8ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1

Publications for Visceral Heterotaxy

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Articles related to Visceral Heterotaxy:

(show all 28)
idTitleAuthorsYear
1
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. (25829475)
2015
2
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
3
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
4
Visceral heterotaxy in the developing world. (22726404)
2012
5
Visceral heterotaxy and malrotation in a neonate. (22411653)
2012
6
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. (21233261)
2011
7
Raoultella ornithinolytica bacteremia in an infant with visceral heterotaxy. (20072080)
2010
8
Membranous septal aneurysm: an unusual cause for right ventricular outflow tract obstruction in a malaligned ventricular septal defect with aortomitral discontinuity (double-outlet right ventricle) associated with visceral heterotaxy. (18704548)
2009
9
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
10
Splenic state in surviving patients with visceral heterotaxy. (16164783)
2005
11
Visceral heterotaxy, isomerism, and splenic structure. (16164784)
2005
12
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
13
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. (11117404)
2000
14
Atrial structure in the presence of visceral heterotaxy. (10950326)
2000
15
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. (11045684)
2000
16
Isomeric arrangement of the left atrial appendages and visceral heterotaxy: two atypical cases. (10817298)
2000
17
The Fontan type procedure in patients with visceral heterotaxy. (9855091)
1998
18
Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases. (9141378)
1997
19
Venoarterial connections in visceral heterotaxy. (8622310)
1996
20
Visceral heterotaxy syndrome induced by retinoids in mouse embryo. (8593204)
1995
21
Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. (7564430)
1995
22
Atrial appendages and venoatrial connections in hearts from patients with visceral heterotaxy. (7677481)
1995
23
Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. (7572671)
1995
24
Total anomalous pulmonary venous drainage in newborns with visceral heterotaxy. (8279925)
1994
25
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. (1959204)
1991
26
99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). (488637)
1979
27
Levocardia with visceral heterotaxy--isolated levocardia: pathologic anatomy and its clinical implications. (4682005)
1973
28
VISCERAL HETEROTAXY WITH MALFORMED HEART. SIMILAR FINDINGS IN A CHILD AND A PUPPY. (14173800)
1964

Variations for Visceral Heterotaxy

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Expression for genes affiliated with Visceral Heterotaxy

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Search GEO for disease gene expression data for Visceral Heterotaxy.

Pathways for genes affiliated with Visceral Heterotaxy

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Pathways related to Visceral Heterotaxy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0ACVR2B, LEFTY2, NODAL, ZIC3
2
Show member pathways
10.0ACVR2B, CFC1, LEFTY2, NODAL
3
Show member pathways
9.9ACVR2B, LEFTY2, NODAL, PITX2

GO Terms for genes affiliated with Visceral Heterotaxy

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Cellular components related to Visceral Heterotaxy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemal dynein complexGO:000585810.4DNAH5, DNAI2
2outer dynein armGO:003615710.1DNAH5, DNAI1, DNAI2
3ciliumGO:00059299.7CCDC40, CFAP53, DNAI1, INVS, NPHP3
4microtubuleGO:00058749.7DNAH11, DNAH5, DNAI1, DNAI2, INVS
5axonemeGO:00059309.1CCDC39, CCDC40, DNAAF1, DNAH5, DNAI2, RSPH9

Biological processes related to Visceral Heterotaxy according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1left lung morphogenesisGO:006046010.8NODAL, PITX2
2nodal signaling pathwayGO:003809210.8CFC1, NODAL
3positive regulation of activin receptor signaling pathwayGO:003292710.7ACVR2B, NODAL
4gastrulation with mouth forming secondGO:000170210.7ACVR2B, NODAL
5digestive system developmentGO:005512310.7NODAL, PITX2
6anterior/posterior pattern specificationGO:000995210.6ACVR2B, NODAL, ZIC3
7cilium assemblyGO:004238410.4CFAP53, DNAH5, DNAI2
8determination of digestive tract left/right asymmetryGO:007190710.3CCDC39, CCDC40, DNAAF1, ZIC3
9epithelial cilium movementGO:000335110.2CCDC40, DNAI1
10inner dynein arm assemblyGO:003615910.2CCDC39, CCDC40, DNAAF1
11regulation of cilium beat frequencyGO:000335610.2CCDC39, CCDC40, DNAAF1, DNAH11
12axonemal dynein complex assemblyGO:007028610.2CCDC39, CCDC40, DNAAF1
13epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.2CCDC39, CCDC40, DNAAF1, NPHP3
14motile cilium assemblyGO:004445810.1CCDC39, CCDC40, DNAAF1, RSPH9
15determination of pancreatic left/right asymmetryGO:003546910.1CCDC39, CCDC40, DNAAF1, NPHP3, ZIC3
16determination of liver left/right asymmetryGO:007191010.1CCDC39, CCDC40, DNAAF1, NPHP3, ZIC3
17heart loopingGO:000194710.0CCDC39, CCDC40, DNAAF1, NODAL, NPHP3, ZIC3
18outer dynein arm assemblyGO:00361589.8DNAAF1, DNAH5, DNAI1, DNAI2
19lung developmentGO:00303249.6ACVR2B, CCDC39, CCDC40, DNAAF1, NODAL, NPHP3
20heart developmentGO:00075079.5ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, NODAL
21sperm motilityGO:00303179.4CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
22cilium movementGO:00033418.9CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5
23determination of left/right symmetryGO:00073688.7ACVR2B, CCDC39, CFC1, DNAH11, DNAH5, DNAI1

Molecular functions related to Visceral Heterotaxy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:000377710.0DNAH11, DNAH5, DNAI2

Sources for Visceral Heterotaxy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet