MCID: VSC013
MIFTS: 41

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, 30ICD10 via Orphanet, 53Orphanet, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Visceral Heterotaxy:

Name: Visceral Heterotaxy 11 13
Situs Ambiguus 11 53
Incomplete Situs Inversus 53
 
Partial Situs Inversus 53
Situs Ambiguous 53
Heterotaxia 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050545
Orphanet53 ORPHA157769
ICD10 via Orphanet30 Q89.3
UMLS via Orphanet68 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, liver and spleen, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

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 36)
idRelated DiseaseScoreTop Affiliating Genes
1acvr2b-related visceral heterotaxy12.0
2cfc1-related visceral heterotaxy12.0
3nodal-related visceral heterotaxy12.0
4zic3-related visceral heterotaxy12.0
5lefty2-related visceral heterotaxy12.0
6heterotaxy, visceral, 1, x-linked11.8
7heterotaxy, visceral, 2, autosomal11.7
8heterotaxy, visceral, 4, autosomal11.7
9heterotaxy11.5
10heterotaxy, visceral, 511.2
11heterotaxy, visceral, 6, autosomal recessive11.1
12heterotaxy, visceral, 7, autosomal11.1
13heterotaxy, visceral, 3, autosomal11.0
14d-glycericacidemia10.5CFAP53, MMP21, NODAL
15encircling double aortic arch10.4ACVR2B, CFAP53
16neuroendocrine tumor10.4CFC1, NODAL, ZIC3
17dhdds-cdg10.3CFAP53, CFC1, PITX2, ZIC3
18hhv-6 encephalitis10.3ACVR2B, CFAP53, CFC1, MMP21, NODAL, ZIC3
19gallbladder disease10.3INVS, NODAL, NPHP3
20bamforth-lazarus syndrome10.3DNAAF1, DNAH11, DNAH5, DNAI1
21neonatal candidiasis10.3ACVR2B, DNAH11, DNAH5, DNAI1, NODAL
22feingold syndrome10.2ACVR2B, LEFTY2
23levocardia10.0
24isolated levocardia9.9
25keratoconus9.8CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
26pseudoarthrosis9.8CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
27bacteremia9.8
28dilated cardiomyopathy9.8
29heart disease9.8
30ventricular septal defect9.8
31vascular disease9.8
32cardiomyopathy9.8
33aneurysm9.8
34univentricular heart9.8
35peritonitis9.7
36subglottis verrucous carcinoma9.6CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5

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
1Liver Extracts3868
2Kavanutraceutical1489000-38-8

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 CiliopathiesActive, not recruitingNCT00068224
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:

35
Heart, Liver, Spleen

Animal Models for Visceral Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Visceral Heterotaxy:

40 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.1ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, INVS
2MP:000538110.0CCDC39, DNAH11, DNAH5, INVS, LEFTY2, MMP21
3MP:000537010.0ACVR2B, CCDC39, DNAH11, DNAH5, INVS, LEFTY2
4MP:00053829.9CCDC39, DNAH11, DNAH5, DNAI1, MMP21, NODAL
5MP:00053849.8ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
6MP:00053979.8ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, INVS
7MP:00053809.8ACVR2B, CCDC40, DNAH11, INVS, LEFTY2, NODAL
8MP:00053879.8ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, INVS
9MP:00036319.7CCDC40, DNAH5, DNAI1, LEFTY2, NODAL, NPHP3
10MP:00053859.6ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, INVS
11MP:00053889.5ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
12MP:00107689.3ACVR2B, CCDC39, CCDC40, DNAH5, DNAI1, INVS
13MP:00053789.0ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
14MP:00053908.9ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, MMP21

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

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
1outer dynein armGO:003615710.3DNAH5, DNAI1, DNAI2
2axonemal dynein complexGO:000585810.3DNAH5, DNAI2
3microtubuleGO:00058749.8DNAH11, DNAH5, DNAI1, DNAI2, INVS
4axonemeGO:00059309.6CCDC39, CCDC40, DNAAF1, DNAH5, DNAI2
5ciliumGO:00059299.4CCDC40, CFAP53, DNAI1, INVS, NPHP3, PKD1L1

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

(show all 24)
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
7left/right axis specificationGO:007098610.5PITX2, PKD1L1
8epithelial cilium movementGO:000335110.4CCDC40, DNAI1
9motile cilium assemblyGO:004445810.4CCDC39, CCDC40, DNAAF1
10sperm motilityGO:009772210.4CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
11inner dynein arm assemblyGO:003615910.4CCDC39, CCDC40, DNAAF1
12determination of digestive tract left/right asymmetryGO:007190710.3CCDC39, CCDC40, DNAAF1, ZIC3
13cilium assemblyGO:006027110.2CFAP53, DNAH5, DNAI2
14epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.2CCDC39, CCDC40, DNAAF1, NPHP3
15regulation of cilium beat frequencyGO:000335610.2CCDC39, CCDC40, DNAAF1, DNAH11
16determination of pancreatic left/right asymmetryGO:003546910.1CCDC39, CCDC40, DNAAF1, NPHP3, ZIC3
17determination of liver left/right asymmetryGO:007191010.1CCDC39, CCDC40, DNAAF1, NPHP3, ZIC3
18heart loopingGO:00019479.9CCDC39, CCDC40, DNAAF1, NODAL, NPHP3, ZIC3
19outer dynein arm assemblyGO:00361589.9DNAAF1, DNAH5, DNAI1, DNAI2
20lung developmentGO:00303249.7ACVR2B, CCDC39, CCDC40, DNAAF1, NODAL, NPHP3
21axonemal dynein complex assemblyGO:00702869.7CCDC39, CCDC40, DNAAF1
22heart developmentGO:00075079.4ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, NODAL
23cilium movementGO:00033419.4CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5
24determination of left/right symmetryGO:00073688.8ACVR2B, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet