MCID: VSC013
MIFTS: 42

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, 31ICD10 via Orphanet, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Visceral Heterotaxy:

Name: Visceral Heterotaxy 11 13
Situs Ambiguus 11 54
Incomplete Situs Inversus 54
 
Partial Situs Inversus 54
Situs Ambiguous 54
Heterotaxia 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050545
Orphanet54 ORPHA157769
ICD10 via Orphanet31 Q89.3
UMLS via Orphanet69 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 TGF-beta signaling pathway (KEGG). Affiliated tissues include heart 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 Heterotaxy, Visceral, 8, Autosomal

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

(show all 47)
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-linked11.7
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, 8, autosomal11.1
14heterotaxy, visceral, 3, autosomal11.0
15right atrial isomerism11.0
16chromosome xq26.3 duplication syndrome10.4ACVR2B, ZIC3
17straddling and/or overriding mitral valve10.4ACVR2B, CFAP53
18proliferative fasciitis10.3ACVR2B, CFAP53, NODAL
19feingold syndrome10.3ACVR2B, LEFTY2
20mevalonic aciduria10.3CFC1, GDF1
21diaphragmatic hernia upper limb defects10.3CFAP53, MMP21, NODAL, PKD1L1
22porencephaly10.3INVS, NODAL, NPHP3
23ichthyosis10.3CFC1, GDF1, NODAL
24senior-loken syndrome-110.2INVS, NPHP3
25prolidase deficiency10.2DNAH5, GDF1
26congenital diarrhea 7 with exudative enteropathy10.2ACVR2B, CFC1, GDF1, LEFTY2, ZIC3
27trichodental syndrome10.2CFAP53, CFC1, GDF1, PITX2, ZIC3
28hypogonadotropic hypogonadism 12 with or without anosmia10.1CFC1, GDF1, PITX2
29ascending cholangitis10.1GDF1, LEFTY2
30hirschsprung microcephaly cleft palate10.1ACVR2B, CFAP53, CFC1, DNAH5, MMP21, NODAL
31levocardia10.0
32bamforth-lazarus syndrome10.0CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
33pseudohypoaldosteronism9.9CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
34isolated levocardia9.9
35keratopathy9.9CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
36lymphoepithelioma-like thymic carcinoma9.9CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5
37gaucher disease, atypical9.8CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
38bacteremia9.8
39dilated cardiomyopathy9.8
40heart disease9.8
41ventricular septal defect9.8
42vascular disease9.8
43situs inversus9.8
44cardiomyopathy9.8
45aneurysm9.8
46univentricular heart9.8
47jmp syndrome9.3ACVR2B, CCDC39, CCDC40, CFAP53, CFC1, DNAAF1

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



Diseases related to visceral heterotaxy

Symptoms & Phenotypes for Visceral Heterotaxy

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MGI Mouse Phenotypes related to Visceral Heterotaxy according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.9ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, GDF1
2MP:00053819.8CCDC39, DNAH11, DNAH5, GDF1, INVS, LEFTY2
3MP:00053809.8ACVR2B, CCDC40, DNAH11, GDF1, INVS, LEFTY2
4MP:00053709.8ACVR2B, CCDC39, DNAH11, DNAH5, GDF1, INVS
5MP:00053829.7CCDC39, DNAAF1, DNAH11, DNAH5, DNAI1, GDF1
6MP:00036319.7CCDC40, DNAAF1, DNAH5, DNAI1, GDF1, LEFTY2
7MP:00053979.6ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, GDF1
8MP:00053879.6ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, GDF1
9MP:00053849.4ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
10MP:00053859.4ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, GDF1
11MP:00053889.1ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
12MP:00053789.1ACVR2B, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
13MP:00107688.9ACVR2B, CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5
14MP:00053908.7ACVR2B, CCDC39, DNAAF1, DNAH11, DNAH5, DNAI1

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 Extracts4067
2Kavanutraceutical1619000-38-8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study DataCompletedNCT01929967
2Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyCompletedNCT01591928
3Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
4Genetic Analysis of Left-Right Axis FormationsCompletedNCT00341133
5Molecular Genetics of Heterotaxy and Related Congenital Heart DefectsRecruitingNCT02432079
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:

36
Heart, Spleen

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
Visceral heterotaxy, isomerism, and splenic structure. (16164784)
2005
11
Splenic state in surviving patients with visceral heterotaxy. (16164783)
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: two atypical cases. (10817298)
2000
14
Atrial structure in the presence of visceral heterotaxy. (10950326)
2000
15
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. (11117404)
2000
16
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. (11045684)
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
Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. (7572671)
1995
22
Atrial appendages and venoatrial connections in hearts from patients with visceral heterotaxy. (7677481)
1995
23
Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. (7564430)
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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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:000585810.9DNAH5, DNAI2
2dynein complexGO:003028610.5DNAH11, DNAH5, DNAI1, DNAI2
3axonemeGO:000593010.2CCDC39, CCDC40, DNAAF1, DNAH5, DNAI2, RSPH9
4outer dynein armGO:003615710.0DNAH5, DNAI1, DNAI2
5microtubuleGO:00058749.9DNAH11, DNAH5, DNAI1, DNAI2, INVS
6cytoskeletonGO:00058569.8CCDC39, DNAAF1, DNAH11, DNAH5, DNAI1, DNAI2
7cell projectionGO:00429959.4CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5
8ciliumGO:00059299.4CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1gastrulation with mouth forming secondGO:000170211.0ACVR2B, NODAL
2digestive system developmentGO:005512310.9NODAL, PITX2
3left/right axis specificationGO:007098610.9PITX2, PKD1L1
4epithelial cilium movementGO:000335110.9CCDC40, DNAI1
5left lung morphogenesisGO:006046010.9NODAL, PITX2
6axoneme assemblyGO:003508210.9CCDC40, RSPH9
7anterior/posterior pattern specificationGO:000995210.9ACVR2B, NODAL, ZIC3
8cell developmentGO:004846810.8GDF1, LEFTY2, NODAL
9nodal signaling pathwayGO:003809210.8CFC1, NODAL
10positive regulation of activin receptor signaling pathwayGO:003292710.8ACVR2B, NODAL
11axonemal dynein complex assemblyGO:007028610.7CCDC39, CCDC40, DNAAF1
12inner dynein arm assemblyGO:003615910.7CCDC39, CCDC40, DNAAF1
13BMP signaling pathwayGO:003050910.7ACVR2B, GDF1, LEFTY2, NODAL
14determination of digestive tract left/right asymmetryGO:007190710.6CCDC39, CCDC40, DNAAF1, ZIC3
15positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.5GDF1, LEFTY2, NODAL
16motile cilium assemblyGO:004445810.5CCDC39, CCDC40, DNAAF1, RSPH9
17flagellated sperm motilityGO:003031710.5CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
18cilium assemblyGO:006027110.5CFAP53, DNAAF1, DNAH5, DNAI2, NPHP3
19epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.4CCDC39, CCDC40, CFAP53, DNAAF1, NPHP3
20determination of liver left/right asymmetryGO:007191010.4CCDC39, CCDC40, DNAAF1, NPHP3, ZIC3
21determination of pancreatic left/right asymmetryGO:003546910.4CCDC39, CCDC40, DNAAF1, NPHP3, ZIC3
22outer dynein arm assemblyGO:003615810.4DNAAF1, DNAH5, DNAI1, DNAI2
23heart loopingGO:000194710.3CCDC39, CCDC40, DNAAF1, NODAL, NPHP3, ZIC3
24regulation of cilium beat frequencyGO:000335610.3CCDC39, CCDC40, DNAAF1, DNAH11
25heart developmentGO:000750710.2ACVR2B, CCDC39, DNAH11, DNAH5, DNAI1, NODAL
26multicellular organism developmentGO:000727510.2CFAP53, CFC1, INVS, LEFTY2, NODAL, PITX2
27SMAD protein signal transductionGO:006039510.1GDF1, LEFTY2, NODAL
28lung developmentGO:003032410.0ACVR2B, CCDC39, CCDC40, DNAAF1, NODAL, NPHP3
29cilium movementGO:00033419.8CCDC39, CCDC40, CFAP53, DNAAF1, DNAH11, DNAH5
30determination of left/right symmetryGO:00073689.4ACVR2B, CCDC39, CFAP53, CFC1, DNAH11, DNAH5

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:000377710.6DNAH11, DNAH5, DNAI2
2motor activityGO:000377410.3DNAH11, DNAH5, DNAI1, DNAI2
3transforming growth factor beta receptor bindingGO:000516010.1GDF1, LEFTY2, NODAL

Sources for Visceral Heterotaxy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet