MCID: VSC013
MIFTS: 45

Visceral Heterotaxy

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

Aliases & Classifications for Visceral Heterotaxy

MalaCards integrated aliases for Visceral Heterotaxy:

Name: Visceral Heterotaxy 12 14
Situs Ambiguus 12 55
Heterotaxia 12 72
Incomplete Situs Inversus 55
Partial Situs Inversus 55
Situs Ambiguous 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0050545
Orphanet 55 ORPHA157769
UMLS via Orphanet 70 C0266642 C1167664
ICD10 via Orphanet 33 Q89.3

Summaries for Visceral Heterotaxy

Disease Ontology : 12 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, visceral, 1, x-linked and heterotaxy, visceral, 4, autosomal. An important gene associated with Visceral Heterotaxy is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. The drugs Kava and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and spleen, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 72 Situs ambiguus or situs ambiguous, also known as heterotaxy or heterotaxia, is a rare congenital defect... more...

Related Diseases for Visceral Heterotaxy

Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 5, Autosomal Heterotaxy, Visceral, 2, Autosomal
Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 6, Autosomal 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 36)
# Related Disease Score Top Affiliating Genes
1 heterotaxy, visceral, 1, x-linked 33.8 GDF1 ZIC3
2 heterotaxy, visceral, 4, autosomal 32.7 ACVR2B LEFTY2
3 heterotaxy 32.7 ACVR2B CFAP53 CFC1 GDF1 MMP21 NODAL
4 right atrial isomerism 32.2 DNAH5 GDF1 NPHP3
5 conotruncal heart malformations 30.2 CFC1 GDF1 PITX2
6 heart disease 30.0 CFC1 GDF1 NODAL PITX2 ZIC3
7 situs inversus 29.6 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5 DNAI1
8 heterotaxy, visceral, 5, autosomal 11.8
9 heterotaxy, visceral, 2, autosomal 11.3
10 heterotaxy, visceral, 7, autosomal 11.3
11 heterotaxy, visceral, 8, autosomal 11.3
12 campomelia, cumming type 11.3
13 heterotaxy, visceral, 6, autosomal 11.2
14 heterotaxy, visceral, 3, autosomal 11.1
15 isolated congenitally uncorrected transposition of the great arteries 10.6 CFC1 ZIC3
16 right aortic arch 10.6 ACVR2B CFAP53
17 dextrocardia 10.5 ACVR2B DNAI1 NODAL
18 dextrocardia with situs inversus 10.5 CFAP53 MMP21 NODAL PKD1L1
19 renal-hepatic-pancreatic dysplasia 10.5 INVS NODAL NPHP3
20 heart septal defect 10.4 CFC1 GDF1 NODAL
21 dextro-looped transposition of the great arteries 10.4 CFC1 GDF1 LEFTY2 ZIC3
22 nephronophthisis 2 10.4 INVS NPHP3
23 transposition of the great arteries 10.3 CFAP53 CFC1 GDF1 PITX2 ZIC3
24 nephronophthisis 1 10.3 INVS NPHP3
25 tricuspid valve disease 10.1 GDF1 ZIC3
26 levocardia 10.1
27 ciliary dyskinesia, primary, 1 10.0 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
28 dilated cardiomyopathy 10.0
29 isolated levocardia 10.0
30 kartagener syndrome 9.9 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
31 primary ciliary dyskinesia 9.9 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
32 bacteremia 2 9.9
33 ventricular septal defect 9.9
34 vascular disease 9.9
35 aneurysm 9.9
36 univentricular heart 9.9

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



Diseases related to Visceral Heterotaxy

Symptoms & Phenotypes for Visceral Heterotaxy

MGI Mouse Phenotypes related to Visceral Heterotaxy:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 PITX2 PKD1L1 ZIC3 ACVR2B ARMC4 CCDC39
2 growth/size/body region MP:0005378 10.41 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
3 cellular MP:0005384 10.37 DNAH11 DNAH5 DNAI1 DNAI2 GDF1 INVS
4 digestive/alimentary MP:0005381 10.27 MMP21 NODAL PITX2 PKD1L1 ZIC3 ARMC4
5 hematopoietic system MP:0005397 10.25 INVS LEFTY2 NODAL NPHP3 PITX2 ZIC3
6 embryo MP:0005380 10.22 ACVR2B CCDC40 DNAH11 GDF1 INVS LEFTY2
7 immune system MP:0005387 10.22 ACVR2B ARMC4 CCDC39 DNAH11 DNAH5 DNAI1
8 mortality/aging MP:0010768 10.22 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
9 craniofacial MP:0005382 10.21 DNAH11 DNAH5 DNAI1 GDF1 MMP21 NODAL
10 liver/biliary system MP:0005370 10.11 ACVR2B CCDC39 DNAH11 DNAH5 GDF1 INVS
11 nervous system MP:0003631 10.03 ARMC4 CCDC40 DNAH5 DNAI1 GDF1 LEFTY2
12 respiratory system MP:0005388 9.86 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
13 renal/urinary system MP:0005367 9.81 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 GDF1
14 skeleton MP:0005390 9.36 ZIC3 ACVR2B CCDC39 DNAH11 DNAH5 DNAI1

Drugs & Therapeutics for Visceral Heterotaxy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Approved, Investigational, Nutraceutical 9000-38-8
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
3 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
4 Genetic Analysis of Left-Right Axis Formations Completed NCT00341133
5 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
6 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
7 Racial Distribution of Heterotaxy Syndrome Terminated NCT00485654

Search NIH Clinical Center for Visceral Heterotaxy

Genetic Tests for Visceral Heterotaxy

Anatomical Context for Visceral Heterotaxy

MalaCards organs/tissues related to Visceral Heterotaxy:

38
Heart, Liver, Spleen

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show all 29)
# Title Authors Year
1
Dilated cardiomyopathy complicated with visceral heterotaxy. ( 29040450 )
2018
2
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. ( 25829475 )
2015
3
A case of unusual visceral heterotaxy syndrome with isolated levocardia. ( 24255657 )
2013
4
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. ( 22843201 )
2013
5
Visceral heterotaxy in the developing world. ( 22726404 )
2012
6
Visceral heterotaxy and malrotation in a neonate. ( 22411653 )
2012
7
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. ( 21233261 )
2011
8
Raoultella ornithinolytica bacteremia in an infant with visceral heterotaxy. ( 20072080 )
2010
9
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
10
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. ( 16401367 )
2006
11
Splenic state in surviving patients with visceral heterotaxy. ( 16164783 )
2005
12
Visceral heterotaxy, isomerism, and splenic structure. ( 16164784 )
2005
13
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
14
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. ( 11117404 )
2000
15
Atrial structure in the presence of visceral heterotaxy. ( 10950326 )
2000
16
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. ( 11045684 )
2000
17
Isomeric arrangement of the left atrial appendages and visceral heterotaxy: two atypical cases. ( 10817298 )
2000
18
The Fontan type procedure in patients with visceral heterotaxy. ( 9855091 )
1998
19
Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases. ( 9141378 )
1997
20
Venoarterial connections in visceral heterotaxy. ( 8622310 )
1996
21
Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. ( 7572671 )
1995
22
Visceral heterotaxy syndrome induced by retinoids in mouse embryo. ( 8593204 )
1995
23
Atrial appendages and venoatrial connections in hearts from patients with visceral heterotaxy. ( 7677481 )
1995
24
Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. ( 7564430 )
1995
25
Total anomalous pulmonary venous drainage in newborns with visceral heterotaxy. ( 8279925 )
1994
26
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. ( 1959204 )
1991
27
99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). ( 488637 )
1979
28
Levocardia with visceral heterotaxy--isolated levocardia: pathologic anatomy and its clinical implications. ( 4682005 )
1973
29
VISCERAL HETEROTAXY WITH MALFORMED HEART. SIMILAR FINDINGS IN A CHILD AND A PUPPY. ( 14173800 )
1964

Variations for Visceral Heterotaxy

ClinVar genetic disease variations for Visceral Heterotaxy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
2 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886037834 GRCh37 Chromosome 7, 47886558: 47886558

Expression for Visceral Heterotaxy

Search GEO for disease gene expression data for Visceral Heterotaxy.

Pathways for Visceral Heterotaxy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 ACVR2B LEFTY2 NODAL PITX2 ZIC3
2 11.7 ACVR2B LEFTY2 NODAL ZIC3
3 11.18 ACVR2B LEFTY2 NODAL PITX2
4
Show member pathways
10.72 ACVR2B CFC1 GDF1 LEFTY2 NODAL

GO Terms for Visceral Heterotaxy

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 ARMC4 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2
2 microtubule GO:0005874 9.77 DNAH11 DNAH5 DNAI1 DNAI2 INVS
3 cell projection GO:0042995 9.7 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
4 axoneme GO:0005930 9.63 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI2
5 dynein complex GO:0030286 9.56 DNAH11 DNAH5 DNAI1 DNAI2
6 outer dynein arm GO:0036157 9.5 DNAH5 DNAI1 DNAI2
7 cilium GO:0005929 9.36 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 ACVR2B ARMC4 CCDC39 DNAH11 DNAI1 NODAL
2 heart looping GO:0001947 9.89 CCDC39 CCDC40 NODAL NPHP3 ZIC3
3 cilium assembly GO:0060271 9.88 CFAP53 DNAH5 DNAI2 NPHP3
4 flagellated sperm motility GO:0030317 9.88 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
5 BMP signaling pathway GO:0030509 9.83 ACVR2B GDF1 LEFTY2 NODAL
6 anterior/posterior pattern specification GO:0009952 9.8 ACVR2B NODAL ZIC3
7 determination of left/right symmetry GO:0007368 9.8 ACVR2B ARMC4 CCDC39 CFAP53 CFC1 DNAH11
8 SMAD protein signal transduction GO:0060395 9.77 GDF1 LEFTY2 NODAL
9 outer dynein arm assembly GO:0036158 9.76 ARMC4 DNAH5 DNAI1 DNAI2
10 cell development GO:0048468 9.73 GDF1 LEFTY2 NODAL
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.72 GDF1 LEFTY2 NODAL
12 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.71 CCDC39 CCDC40 CFAP53 NPHP3
13 lung development GO:0030324 9.7 ACVR2B CCDC39 CCDC40 NODAL NPHP3 PITX2
14 determination of digestive tract left/right asymmetry GO:0071907 9.69 CCDC39 CCDC40 ZIC3
15 determination of liver left/right asymmetry GO:0071910 9.67 CCDC39 CCDC40 NPHP3 ZIC3
16 motile cilium assembly GO:0044458 9.64 CCDC39 CCDC40
17 gastrulation with mouth forming second GO:0001702 9.64 ACVR2B NODAL
18 inner dynein arm assembly GO:0036159 9.63 CCDC39 CCDC40
19 left/right axis specification GO:0070986 9.62 PITX2 PKD1L1
20 epithelial cilium movement GO:0003351 9.62 CCDC40 DNAI1
21 determination of pancreatic left/right asymmetry GO:0035469 9.62 CCDC39 CCDC40 NPHP3 ZIC3
22 axonemal dynein complex assembly GO:0070286 9.61 CCDC39 CCDC40
23 digestive system development GO:0055123 9.61 NODAL PITX2
24 nodal signaling pathway GO:0038092 9.58 CFC1 NODAL
25 positive regulation of activin receptor signaling pathway GO:0032927 9.57 ACVR2B NODAL
26 regulation of cilium beat frequency GO:0003356 9.56 ARMC4 CCDC39 CCDC40 DNAH11
27 left lung morphogenesis GO:0060460 9.54 NODAL PITX2
28 cilium movement GO:0003341 9.23 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
29 multicellular organism development GO:0007275 10.14 CFAP53 CFC1 INVS LEFTY2 NODAL PITX2

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.43 DNAH11 DNAH5
2 microtubule motor activity GO:0003777 9.43 DNAH11 DNAH5 DNAI2
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.4 DNAI1 DNAI2
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.37 DNAH11 DNAH5
5 transforming growth factor beta receptor binding GO:0005160 9.33 GDF1 LEFTY2 NODAL
6 dynein heavy chain binding GO:0045504 9.32 DNAI1 DNAI2
7 motor activity GO:0003774 9.26 DNAH11 DNAH5 DNAI1 DNAI2
8 dynein light chain binding GO:0045503 8.92 DNAH11 DNAH5 DNAI1 DNAI2

Sources for Visceral Heterotaxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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