MCID: VSC013
MIFTS: 44

Visceral Heterotaxy malady

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

Aliases & Classifications for Visceral Heterotaxy

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Visceral Heterotaxy:

Name: Visceral Heterotaxy 10 12
Situs Ambiguus 10 51
Incomplete Situs Inversus 51
 
Partial Situs Inversus 51
Situs Ambiguous 51
Heterotaxia 10

Classifications:



External Ids:

Disease Ontology10 DOID:0050545
Orphanet51 157769
ICD10 via Orphanet28 Q89.3
UMLS via Orphanet66 C0266642, C1167664

Summaries for Visceral Heterotaxy

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Disease Ontology:10 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 TGF-beta Signaling Pathway (sino) and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart, thyroid and bone, 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

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

(show all 42)
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
10persistent fifth aortic arch10.7ACVR2B, CFAP53
11dextrocardia with unusual facies and microphthalmia10.7CFAP53, MMP21, NODAL
12rhabdomyosarcoma of the corpus uteri10.6CFC1, GDF1
13cataract 29, coralliform10.6ACVR2B, LEFTY2
14cogan-reese syndrome10.5INVS, NPHP3
15hhv-6 encephalitis10.5ACVR2B, CFAP53, CFC1, NODAL, ZIC3
16choanal atresia10.5ACVR2B, DNAH11, DNAI1, NODAL
17nephronophthisis 1, juvenile10.4INVS, NPHP3
18ptosis10.3GDF1, INVS, NODAL, NPHP3
19heterotaxy, visceral, 510.3
20transverse limb deficiency hemangioma10.3CFAP53, CFC1, GDF1, PITX2, ZIC3
21surfactant metabolism dysfunction, pulmonary, 210.3CFC1, GDF1, PITX2
22heterotaxy, visceral, 6, autosomal recessive10.2
23panic disorder 210.2INVS, NPHP3
24levocardia10.1
25heterotaxy, visceral, 3, autosomal10.1
26inclusion body myopathy, autosomal recessive10.1CCDC40, DNAAF1, DNAH5, DNAI1, DNAI2, RSPH9
27isolated levocardia10.0
28bacteremia9.9
29dilated cardiomyopathy9.9
30heart disease9.9
31ventricular septal defect9.9
32congenital heart disease9.9
33vascular disease9.9
34situs inversus9.9
35cardiomyopathy9.9
36aneurysm9.9
37univentricular heart9.9
38dextrocardia9.9CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1, DNAI2
39glottis verrucous carcinoma9.7CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1, DNAI2
40keloids9.6CCDC40, DNAAF1, DNAH11, DNAH5, DNAH9, DNAI1
41progressive hemifacial atrophy9.6CCDC40, DNAAF1, DNAH11, DNAH5, DNAH9, DNAI1
42congenital adrenal insufficiency8.0ACVR2B, CCDC40, CFAP53, CFC1, DNAAF1, DNAH11

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 Extracts3572
2Kavanutraceutical1329000-38-85281052

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:

33
Heart, Thyroid, Bone, Liver, Pituitary, T cells, Testes

Animal Models for Visceral Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Visceral Heterotaxy:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.7ACVR2B, CCDC40, DNAH11, DNAH5, GDF1, INVS
2MP:00053819.4DNAH11, DNAH5, GDF1, INVS, LEFTY2, MMP21
3MP:00053709.4ACVR2B, DNAH11, DNAH5, GDF1, INVS, LEFTY2
4MP:00053809.2ACVR2B, CCDC40, DNAH11, GDF1, INVS, LEFTY2
5MP:00036319.2CCDC40, DNAH5, DNAI1, GDF1, LEFTY2, NODAL
6MP:00053849.1ACVR2B, CCDC40, DNAH11, DNAH5, DNAI1, GDF1
7MP:00053829.0DNAH11, DNAH5, DNAI1, GDF1, MMP21, NODAL
8MP:00053889.0ACVR2B, CCDC40, DNAH11, DNAH5, DNAI1, GDF1
9MP:00053908.7ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, MMP21
10MP:00053878.7ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, INVS
11MP:00053858.7ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, INVS
12MP:00107688.5ACVR2B, CCDC40, DNAH5, DNAI1, GDF1, INVS
13MP:00053978.5ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, INVS
14MP:00053788.4ACVR2B, CCDC40, DNAH11, DNAH5, DNAI1, GDF1

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. (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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GO Terms for genes affiliated with Visceral Heterotaxy

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1gastrulation with mouth forming secondGO:000170210.7ACVR2B, NODAL
2positive regulation of activin receptor signaling pathwayGO:003292710.6ACVR2B, NODAL
3regulation of signal transductionGO:000996610.5ACVR2B, NODAL
4determination of digestive tract left/right asymmetryGO:007190710.5CCDC40, DNAAF1, ZIC3
5digestive system developmentGO:005512310.5NODAL, PITX2
6epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.4CCDC40, DNAAF1, NPHP3
7determination of pancreatic left/right asymmetryGO:003546910.4CCDC40, DNAAF1, NPHP3
8motile cilium assemblyGO:004445810.4CCDC40, DNAAF1, RSPH9
9sperm motilityGO:003031710.3CCDC40, DNAI1
10positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.3GDF1, NODAL
11BMP signaling pathwayGO:003050910.3ACVR2B, GDF1, NODAL
12heart loopingGO:000194710.2CCDC40, DNAAF1, NODAL, NPHP3
13growthGO:004000710.1GDF1, LEFTY2, NODAL
14heart developmentGO:000750710.1ACVR2B, DNAI1, NODAL, PITX2
15determination of left/right symmetryGO:00073689.9ACVR2B, DNAH11, NODAL, NPHP3, PITX2, ZIC3
16lung developmentGO:00303249.9ACVR2B, DNAAF1, NODAL, PITX2
17cilium assemblyGO:00423849.9DNAH5, DNAI2

Sources for Visceral Heterotaxy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet