MCID: VSC013
MIFTS: 42

Visceral Heterotaxy malady

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

Aliases & Classifications for Visceral Heterotaxy

Aliases & Descriptions for Visceral Heterotaxy:

Name: Visceral Heterotaxy 12 14
Situs Ambiguus 12 56
Incomplete Situs Inversus 56
Partial Situs Inversus 56
Situs Ambiguous 56
Heterotaxia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050545
Orphanet 56 ORPHA157769
ICD10 via Orphanet 34 Q89.3
UMLS via Orphanet 70 C0266642 C1167664

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 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/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. The drugs Liver Extracts and Kava have been mentioned in the context of this disorder. Affiliated tissues include heart and spleen, and related phenotypes are cardiovascular system and growth/size/body region

Related Diseases for Visceral Heterotaxy

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)
id Related Disease Score Top Affiliating Genes
1 acvr2b-related visceral heterotaxy 12.0
2 cfc1-related visceral heterotaxy 12.0
3 nodal-related visceral heterotaxy 12.0
4 zic3-related visceral heterotaxy 12.0
5 lefty2-related visceral heterotaxy 12.0
6 heterotaxy, visceral, 1, x-linked 11.7
7 heterotaxy, visceral, 2, autosomal 11.7
8 heterotaxy, visceral, 4, autosomal 11.7
9 heterotaxy 11.5
10 heterotaxy, visceral, 5 11.2
11 heterotaxy, visceral, 6, autosomal recessive 11.1
12 heterotaxy, visceral, 7, autosomal 11.1
13 heterotaxy, visceral, 8, autosomal 11.1
14 heterotaxy, visceral, 3, autosomal 11.0
15 right atrial isomerism 11.0
16 chromosome xq26.3 duplication syndrome 10.4 ACVR2B ZIC3
17 straddling and/or overriding mitral valve 10.4 ACVR2B CFAP53
18 proliferative fasciitis 10.3 ACVR2B CFAP53 NODAL
19 feingold syndrome 10.3 ACVR2B LEFTY2
20 mevalonic aciduria 10.3 CFC1 GDF1
21 diaphragmatic hernia upper limb defects 10.3 CFAP53 MMP21 NODAL PKD1L1
22 porencephaly 10.3 INVS NODAL NPHP3
23 ichthyosis 10.3 CFC1 GDF1 NODAL
24 senior-loken syndrome-1 10.2 INVS NPHP3
25 prolidase deficiency 10.2 DNAH5 GDF1
26 congenital diarrhea 7 with exudative enteropathy 10.2 ACVR2B CFC1 GDF1 LEFTY2 ZIC3
27 trichodental syndrome 10.2 CFAP53 CFC1 GDF1 PITX2 ZIC3
28 hypogonadotropic hypogonadism 12 with or without anosmia 10.1 CFC1 GDF1 PITX2
29 ascending cholangitis 10.1 GDF1 LEFTY2
30 hirschsprung microcephaly cleft palate 10.1 ACVR2B CFAP53 CFC1 DNAH5 MMP21 NODAL
31 levocardia 10.0
32 bamforth-lazarus syndrome 10.0 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
33 pseudohypoaldosteronism 9.9 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
34 isolated levocardia 9.9
35 keratopathy 9.9 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
36 lymphoepithelioma-like thymic carcinoma 9.9 CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11 DNAH5
37 gaucher disease, atypical 9.8 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
38 situs inversus 9.8
39 cardiomyopathy 9.8
40 bacteremia 9.8
41 aneurysm 9.8
42 univentricular heart 9.8
43 dilated cardiomyopathy 9.8
44 heart disease 9.8
45 ventricular septal defect 9.8
46 vascular disease 9.8
47 jmp syndrome 9.3 ACVR2B 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

MGI Mouse Phenotypes related to Visceral Heterotaxy:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ACVR2B CCDC39 DNAH11 DNAH5 DNAI1 GDF1
2 growth/size/body region MP:0005378 10.36 DNAI1 DNAI2 GDF1 INVS LEFTY2 MMP21
3 cellular MP:0005384 10.34 DNAH11 DNAH5 DNAI1 DNAI2 GDF1 INVS
4 craniofacial MP:0005382 10.25 DNAH11 DNAH5 DNAI1 GDF1 MMP21 NODAL
5 digestive/alimentary MP:0005381 10.24 CCDC39 DNAH11 DNAH5 GDF1 INVS LEFTY2
6 embryo MP:0005380 10.22 NODAL NPHP3 PITX2 PKD1L1 ZIC3 ACVR2B
7 mortality/aging MP:0010768 10.22 DNAI1 GDF1 INVS LEFTY2 NODAL NPHP3
8 hematopoietic system MP:0005397 10.21 ACVR2B CCDC39 DNAH11 DNAH5 DNAI1 GDF1
9 immune system MP:0005387 10.18 LEFTY2 NODAL NPHP3 PITX2 ZIC3 ACVR2B
10 liver/biliary system MP:0005370 10.11 INVS LEFTY2 MMP21 NODAL PITX2 ZIC3
11 nervous system MP:0003631 10 LEFTY2 NODAL NPHP3 PITX2 PKD1L1 ZIC3
12 respiratory system MP:0005388 9.83 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
13 renal/urinary system MP:0005367 9.81 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 GDF1
14 skeleton MP:0005390 9.4 ACVR2B CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1

Drugs & Therapeutics for Visceral Heterotaxy

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts
2 Kava Nutraceutical 9000-38-8

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
Heart, Spleen

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show all 28)
id Title Authors Year
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

ClinVar genetic disease variations for Visceral Heterotaxy:

6
id 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 GRCh38 Chromosome 7, 47846960: 47846960

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1 DNAI2
2 microtubule GO:0005874 9.8 DNAH11 DNAH5 DNAI1 DNAI2 INVS
3 cell projection GO:0042995 9.73 CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11 DNAH5
4 axoneme GO:0005930 9.63 CCDC39 CCDC40 DNAAF1 DNAH5 DNAI2 RSPH9
5 dynein complex GO:0030286 9.62 DNAH11 DNAH5 DNAI1 DNAI2
6 axonemal dynein complex GO:0005858 9.43 DNAH5 DNAI2
7 outer dynein arm GO:0036157 9.43 DNAH5 DNAI1 DNAI2
8 cilium GO:0005929 9.4 CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11 DNAH5

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

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.96 CFAP53 DNAAF1 DNAH5 DNAI2 NPHP3
2 flagellated sperm motility GO:0030317 9.91 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
3 heart looping GO:0001947 9.88 CCDC39 CCDC40 DNAAF1 NODAL NPHP3 ZIC3
4 BMP signaling pathway GO:0030509 9.87 ACVR2B GDF1 LEFTY2 NODAL
5 lung development GO:0030324 9.86 ACVR2B CCDC39 CCDC40 DNAAF1 NODAL NPHP3
6 motile cilium assembly GO:0044458 9.83 CCDC39 CCDC40 DNAAF1 RSPH9
7 anterior/posterior pattern specification GO:0009952 9.81 ACVR2B NODAL ZIC3
8 outer dynein arm assembly GO:0036158 9.8 DNAAF1 DNAH5 DNAI1 DNAI2
9 SMAD protein signal transduction GO:0060395 9.79 GDF1 LEFTY2 NODAL
10 cell development GO:0048468 9.77 GDF1 LEFTY2 NODAL
11 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.77 CCDC39 CCDC40 CFAP53 DNAAF1 NPHP3
12 determination of left/right symmetry GO:0007368 9.77 ACVR2B CCDC39 CFAP53 CFC1 DNAH11 DNAH5
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.76 GDF1 LEFTY2 NODAL
14 determination of digestive tract left/right asymmetry GO:0071907 9.76 CCDC39 CCDC40 DNAAF1 ZIC3
15 regulation of cilium beat frequency GO:0003356 9.73 CCDC39 CCDC40 DNAAF1 DNAH11
16 inner dynein arm assembly GO:0036159 9.72 CCDC39 CCDC40 DNAAF1
17 determination of liver left/right asymmetry GO:0071910 9.72 CCDC39 CCDC40 DNAAF1 NPHP3 ZIC3
18 axonemal dynein complex assembly GO:0070286 9.71 CCDC39 CCDC40 DNAAF1
19 gastrulation with mouth forming second GO:0001702 9.65 ACVR2B NODAL
20 axoneme assembly GO:0035082 9.64 CCDC40 RSPH9
21 epithelial cilium movement GO:0003351 9.63 CCDC40 DNAI1
22 left/right axis specification GO:0070986 9.63 PITX2 PKD1L1
23 digestive system development GO:0055123 9.62 NODAL PITX2
24 positive regulation of activin receptor signaling pathway GO:0032927 9.61 ACVR2B NODAL
25 nodal signaling pathway GO:0038092 9.6 CFC1 NODAL
26 left lung morphogenesis GO:0060460 9.58 NODAL PITX2
27 determination of pancreatic left/right asymmetry GO:0035469 9.55 CCDC39 CCDC40 DNAAF1 NPHP3 ZIC3
28 cilium movement GO:0003341 9.28 CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11 DNAH5
29 multicellular organism development GO:0007275 10.16 CFAP53 CFC1 INVS LEFTY2 NODAL PITX2
30 heart development GO:0007507 10.02 ACVR2B CCDC39 DNAH11 DNAH5 DNAI1 NODAL

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

id Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.33 DNAH11 DNAH5 DNAI2
2 transforming growth factor beta receptor binding GO:0005160 9.13 GDF1 LEFTY2 NODAL
3 motor activity GO:0003774 8.92 DNAH11 DNAH5 DNAI1 DNAI2

Sources for Visceral Heterotaxy

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