MCID: VSC013
MIFTS: 40

Visceral Heterotaxy malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Visceral Heterotaxy

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all 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 heterotaxy and heterotaxy, visceral, 1, x-linked. An important gene associated with Visceral Heterotaxy is NODAL (Nodal Growth Differentiation Factor), and among its related pathways are and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart and spleen, and related mouse phenotypes are craniofacial and renal/urinary system.

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 top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy10.9
2heterotaxy, visceral, 1, x-linked10.5
3nodal-related visceral heterotaxy10.5
4zic3-related visceral heterotaxy10.5
5duodenitis10.4
6duodenal obstruction10.4
7heterotaxy, visceral, 2, autosomal10.4
8heterotaxy, visceral, 4, autosomal10.4
9heterotaxy, visceral, 510.4
10acvr2b-related visceral heterotaxy10.4
11cfc1-related visceral heterotaxy10.4
12lefty2-related visceral heterotaxy10.4
13levocardia10.4
14annular pancreas10.4
15persistent fifth aortic arch10.3ACVR2B, CFAP53
16heterotaxy, visceral, 6, autosomal recessive10.3
17isolated levocardia10.3
18dextrocardia with unusual facies and microphthalmia10.3CFAP53, NODAL
19rhabdomyosarcoma of the corpus uteri10.3CFC1, GDF1
20peritonitis10.2
21hhv-6 encephalitis10.2ACVR2B, CFC1, NODAL, ZIC3
22thyroxine-binding globulin deficiency10.2ACVR2B, LEFTY2
23holoprosencephaly10.2
24intestinal volvulus10.2
25pancreatitis10.2
26hemolytic disease of the newborn with kell alloimmunization10.2CFC1, GDF1
27bronchiectasis10.2ACVR2B, DNAH11, DNAH5, DNAI1, NODAL
28mixed ductal-endocrine carcinoma10.2GDF1, INVS, NODAL, NPHP3
29bacteremia10.2
30heterotaxy, visceral, 3, autosomal10.2
31dilated cardiomyopathy10.2
32situs inversus10.2
33congenital heart disease10.2
34vascular disease10.2
35ventricular septal defect10.2
36cardiomyopathy10.2
37aneurysm10.2
38univentricular heart10.2
39conotruncal heart malformations10.1CFC1, GDF1, PITX2, ZIC3
40splenic infarction10.1
41dextrocardia10.1
42congenital pseudoarthrosis of clavicle10.1
43human venous malformation10.1GDF1, NODAL, ZIC4, ZIC5
44transverse limb deficiency hemangioma10.1CFAP53, CFC1, GDF1, PITX2, ZIC3
45clear cell meningioma10.1DNAH11, DNAH5, DNAI1
46nephronophthisis 1, juvenile10.1INVS, NPHP3
47inclusion body myopathy, autosomal recessive10.1DNAAF1, DNAH5, DNAI1, DNAI2, RSPH9
48agnathia-otocephaly complex10.0
49visceral myopathy10.0
50ellis-van creveld syndrome10.0

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
1Kavanutraceutical1239000-38-85281052

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, Spleen

Animal Models for Visceral Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Visceral Heterotaxy:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.7DNAH5, GDF1, NODAL, NPHP3, PITX2, ZIC3
2MP:00053679.6ACVR2B, CCDC40, DNAH11, DNAH5, GDF1, INVS
3MP:00053819.4CFC1, DNAH11, DNAH5, GDF1, INVS, LEFTY2
4MP:00053709.3ACVR2B, CFC1, DNAH11, DNAH5, GDF1, INVS
5MP:00053909.3ACVR2B, CFC1, DNAH11, DNAH5, GDF1, NODAL
6MP:00053858.9ACVR2B, CFC1, DNAH11, DNAH5, DNAI1, GDF1
7MP:00053808.8ACVR2B, CCDC40, CFC1, DNAH11, GDF1, INVS
8MP:00053978.8ACVR2B, CFC1, DNAH11, DNAH5, GDF1, INVS
9MP:00053888.7ACVR2B, CCDC40, CFC1, DNAH11, DNAH5, DNAI1
10MP:00036318.4CCDC40, DNAH5, DNAI1, GDF1, LEFTY2, NODAL
11MP:00107688.4ACVR2B, CCDC40, CFC1, DNAH5, GDF1, INVS
12MP:00053878.3ACVR2B, CFC1, DNAH11, DNAH5, DNAI1, GDF1
13MP:00053788.1ACVR2B, CCDC40, CFC1, 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
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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Pathways related to Visceral Heterotaxy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
TGF-beta Signaling Pathway (sino)
Show member pathways
10.0
210.0ACVR2B, LEFTY2, NODAL, ZIC3
3
TGF-beta signaling pathway (KEGG)
Show member pathways
9.9ACVR2B, LEFTY2, NODAL, ZIC3
4
Show member pathways
9.7ACVR2B, CFC1, GDF1, 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
1ciliary inversin compartmentGO:009754310.7INVS, NPHP3
2ciliary baseGO:009754610.7INVS, NPHP3
3axonemal dynein complexGO:000585810.4DNAH5, DNAI2
4outer dynein armGO:003615710.0DNAH5, DNAI1, DNAI2
5dynein complexGO:003028610.0DNAH11, DNAH5, DNAH9
6axonemeGO:00059309.7CCDC40, DNAAF1, DNAH5, DNAH9, DNAI2, RSPH9
7ciliumGO:00059299.4CCDC40, CFAP53, DNAH11, DNAI1, NPHP3
8microtubuleGO:00058749.4DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, INVS

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:003292710.8ACVR2B, NODAL
2nodal signaling pathwayGO:003809210.8CFC1, NODAL
3gastrulation with mouth forming secondGO:000170210.7ACVR2B, NODAL
4left/right axis specificationGO:007098610.7DNAH5, PITX2
5axonemal dynein complex assemblyGO:007028610.5CCDC40, DNAAF1
6growthGO:004000710.5GDF1, LEFTY2, NODAL
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.5GDF1, LEFTY2, NODAL
8anterior/posterior pattern specificationGO:000995210.4ACVR2B, NODAL, ZIC3
9determination of digestive tract left/right asymmetryGO:007190710.4CCDC40, DNAAF1, ZIC3
10regulation of cilium beat frequencyGO:000335610.4CCDC40, DNAAF1, DNAH11
11epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.4CCDC40, DNAAF1, NPHP3
12SMAD protein signal transductionGO:006039510.4GDF1, LEFTY2, NODAL
13kidney developmentGO:000182210.3ACVR2B, INVS, NPHP3
14inner dynein arm assemblyGO:003615910.3CCDC40, DNAAF1
15cell developmentGO:004846810.3GDF1, LEFTY2, NODAL
16determination of pancreatic left/right asymmetryGO:003546910.2CCDC40, DNAAF1, NPHP3, ZIC3
17determination of liver left/right asymmetryGO:007191010.2CCDC40, DNAAF1, NPHP3, ZIC3
18epithelial cilium movementGO:000335110.2CCDC40, DNAI1
19heart loopingGO:000194710.1CCDC40, DNAAF1, NODAL, NPHP3, ZIC3
20microtubule-based movementGO:000701810.1DNAH11, DNAH5, DNAH9
21motile cilium assemblyGO:00444589.9CCDC40, DNAAF1, RSPH9
22lung developmentGO:00303249.8ACVR2B, CCDC40, DNAAF1, NODAL, NPHP3, ZIC3
23sperm motilityGO:00303179.7CCDC40, DNAH11, DNAH5, DNAI1
24outer dynein arm assemblyGO:00361589.5DNAAF1, DNAH5, DNAI1, DNAI2
25cilium movementGO:00033419.4CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1, DNAI2
26determination of left/right symmetryGO:00073688.9ACVR2B, CFC1, DNAH11, DNAH5, DNAI1, DNAI2

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:000516010.1GDF1, LEFTY2, NODAL
2microtubule motor activityGO:00037779.8DNAH11, DNAH5, DNAH9, 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