MCID: VSC013
MIFTS: 46

Visceral Heterotaxy

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

Aliases & Classifications for Visceral Heterotaxy

MalaCards integrated aliases for Visceral Heterotaxy:

Name: Visceral Heterotaxy 12 15
Heterotaxia 12 76 29 6
Situs Ambiguus 12 59
Incomplete Situs Inversus 59
Partial Situs Inversus 59
Heterotaxy, Visceral 40
Situs Ambiguous 59

Classifications:



External Ids:

Disease Ontology 12 DOID:0050545
Orphanet 59 ORPHA157769
ICD10 via Orphanet 34 Q89.3
UMLS via Orphanet 74 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 heterotaxia, is related to heterotaxy and right atrial isomerism. An important gene associated with Visceral Heterotaxy is GDF1 (Growth Differentiation Factor 1), 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 : 76 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 40)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 33.3 ACVR2B CFAP53 CFC1 MMP21 NODAL PKD1L1
2 right atrial isomerism 32.8 DNAH5 GDF1 NPHP3
3 double outlet right ventricle 31.0 CFC1 GDF1 ZIC3
4 heart disease 30.5 CFC1 GDF1 NODAL PITX2 ZIC3
5 situs inversus 29.5 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
6 heterotaxy, visceral, 1, x-linked 12.0
7 heterotaxy, visceral, 5, autosomal 11.9
8 heterotaxy, visceral, 2, autosomal 11.3
9 heterotaxy, visceral, 4, autosomal 11.3
10 heterotaxy, visceral, 7, autosomal 11.3
11 heterotaxy, visceral, 8, autosomal 11.3
12 heterotaxy, visceral, 6, autosomal 11.2
13 heterotaxy, visceral, 3, autosomal 11.1
14 isolated congenitally uncorrected transposition of the great arteries 11.1 CFC1 ZIC3
15 right aortic arch 11.0 ACVR2B CFAP53
16 heart septal defect 10.9 CFC1 GDF1 NODAL
17 transposition of the great arteries 10.9 GDF1 ZIC3
18 dextrocardia with situs inversus 10.9 CFAP53 MMP21 NODAL PKD1L1
19 atrial heart septal defect 10.9 CFC1 GDF1 NODAL
20 nephronophthisis 2 10.8 INVS NPHP3
21 renal-hepatic-pancreatic dysplasia 10.8 INVS NODAL NPHP3
22 dextro-looped transposition of the great arteries 10.8 CFC1 GDF1 LEFTY2 ZIC3
23 dextrocardia 10.8 ACVR2B CFAP53 DNAI1 NODAL
24 infantile nephronophthisis 10.7 INVS NPHP3
25 juvenile nephronophthisis 10.7 INVS NPHP3
26 nephronophthisis 1 10.6 INVS NPHP3
27 tricuspid valve disease 10.6 GDF1 ZIC3
28 ciliary dyskinesia, primary, 1 10.5 ARMC4 CCDC40 DNAH5 DNAI1 DNAI2
29 holoprosencephaly 10.2 GDF1 NODAL ZIC4
30 primary ciliary dyskinesia 10.2 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
31 levocardia 10.1
32 kartagener syndrome 10.1 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
33 dilated cardiomyopathy 10.0
34 isolated levocardia 10.0
35 cholangiocarcinoma 9.8
36 ventricular septal defect 9.8
37 vascular disease 9.8
38 intrahepatic cholangiocarcinoma 9.8
39 aneurysm 9.8
40 univentricular heart 9.8

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:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 MMP21 NODAL NPHP3 PITX2 PKD1L1 ZIC3
2 growth/size/body region MP:0005378 10.41 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
3 cellular MP:0005384 10.37 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
4 digestive/alimentary MP:0005381 10.27 ARMC4 CCDC39 DNAH11 DNAH5 GDF1 INVS
5 hematopoietic system MP:0005397 10.25 DNAH5 DNAI1 GDF1 INVS LEFTY2 NODAL
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 NODAL NPHP3 PITX2 PKD1L1 ZIC3 ZIC4
9 craniofacial MP:0005382 10.21 CCDC39 DNAH11 DNAH5 DNAI1 GDF1 MMP21
10 liver/biliary system MP:0005370 10.11 DNAH5 GDF1 INVS LEFTY2 MMP21 NODAL
11 nervous system MP:0003631 10.07 ARMC4 CCDC39 CCDC40 DNAH5 DNAI1 GDF1
12 respiratory system MP:0005388 9.86 ZIC3 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11
13 renal/urinary system MP:0005367 9.81 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 GDF1
14 skeleton MP:0005390 9.36 NODAL NPHP3 PITX2 ZIC3 ACVR2B CCDC39

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

Genetic tests related to Visceral Heterotaxy:

# Genetic test Affiliating Genes
1 Heterotaxia 29

Anatomical Context for Visceral Heterotaxy

MalaCards organs/tissues related to Visceral Heterotaxy:

41
Heart, Liver, Spleen

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show all 30)
# Title Authors Year
1
Dilated cardiomyopathy complicated with visceral heterotaxy. ( 29040450 )
2018
2
Intrahepatic cholangiocarcinoma after Fontan procedure in an adult with visceral heterotaxy. ( 29559246 )
2018
3
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. ( 25829475 )
2015
4
A case of unusual visceral heterotaxy syndrome with isolated levocardia. ( 24255657 )
2013
5
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. ( 22843201 )
2013
6
Visceral heterotaxy in the developing world. ( 22726404 )
2012
7
Visceral heterotaxy and malrotation in a neonate. ( 22411653 )
2012
8
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. ( 21233261 )
2011
9
Raoultella ornithinolytica bacteremia in an infant with visceral heterotaxy. ( 20072080 )
2010
10
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
11
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. ( 16401367 )
2006
12
Splenic state in surviving patients with visceral heterotaxy. ( 16164783 )
2005
13
Visceral heterotaxy, isomerism, and splenic structure. ( 16164784 )
2005
14
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
15
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. ( 11117404 )
2000
16
Isomeric arrangement of the left atrial appendages and visceral heterotaxy: two atypical cases. ( 10817298 )
2000
17
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. ( 11045684 )
2000
18
Atrial structure in the presence of visceral heterotaxy. ( 10950326 )
2000
19
The Fontan type procedure in patients with visceral heterotaxy. ( 9855091 )
1998
20
Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases. ( 9141378 )
1997
21
Venoarterial connections in visceral heterotaxy. ( 8622310 )
1996
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
Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. ( 7572671 )
1995
25
Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. ( 7564430 )
1995
26
Total anomalous pulmonary venous drainage in newborns with visceral heterotaxy. ( 8279925 )
1994
27
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. ( 1959204 )
1991
28
99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). ( 488637 )
1979
29
Levocardia with visceral heterotaxy--isolated levocardia: pathologic anatomy and its clinical implications. ( 4682005 )
1973
30
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
(show top 50) (show all 452)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
2 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh38 Chromosome 19, 18869035: 18869035
3 GDF1 NM_001492.5(GDF1): c.468_470dupGGC (p.Ala158_Pro159insAla) duplication Benign rs571387097 GRCh37 Chromosome 19, 18980055: 18980057
4 GDF1 NM_001492.5(GDF1): c.468_470dupGGC (p.Ala158_Pro159insAla) duplication Benign rs571387097 GRCh38 Chromosome 19, 18869246: 18869248
5 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh38 Chromosome 19, 18868791: 18868791
6 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh37 Chromosome 19, 18979600: 18979600
7 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh37 Chromosome 1, 226127623: 226127623
8 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh38 Chromosome 1, 225939923: 225939923
9 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh38 Chromosome 1, 225939779: 225939779
10 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh37 Chromosome 1, 226127479: 226127479
11 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh38 Chromosome 1, 225940972: 225940972
12 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh37 Chromosome 1, 226128672: 226128672
13 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh37 Chromosome 3, 38519424: 38519424
14 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh38 Chromosome 3, 38477933: 38477933
15 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh37 Chromosome 3, 38521156: 38521156
16 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh38 Chromosome 3, 38479665: 38479665
17 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh37 Chromosome 3, 38524742: 38524742
18 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh38 Chromosome 3, 38483251: 38483251
19 NODAL NM_018055.4(NODAL): c.607G> A (p.Glu203Lys) single nucleotide variant Likely benign rs10999334 GRCh37 Chromosome 10, 72195326: 72195326
20 NODAL NM_018055.4(NODAL): c.607G> A (p.Glu203Lys) single nucleotide variant Likely benign rs10999334 GRCh38 Chromosome 10, 70435570: 70435570
21 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh38 Chromosome 10, 70435589: 70435589
22 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh37 Chromosome 10, 72195345: 72195345
23 GDF1 NM_001492.5(GDF1): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs181918871 GRCh38 Chromosome 19, 18869328: 18869328
24 GDF1 NM_001492.5(GDF1): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs181918871 GRCh37 Chromosome 19, 18980137: 18980137
25 MMP21 NM_147191.1(MMP21): c.1203G> A (p.Trp401Ter) single nucleotide variant Likely pathogenic rs137955225 GRCh37 Chromosome 10, 127458937: 127458937
26 MMP21 NM_147191.1(MMP21): c.1203G> A (p.Trp401Ter) single nucleotide variant Likely pathogenic rs137955225 GRCh38 Chromosome 10, 125770368: 125770368
27 LEFTY2 NM_003240.4(LEFTY2): c.*496T> G single nucleotide variant Likely benign rs6697182 GRCh38 Chromosome 1, 225936945: 225936945
28 LEFTY2 NM_003240.4(LEFTY2): c.*496T> G single nucleotide variant Likely benign rs6697182 GRCh37 Chromosome 1, 226124645: 226124645
29 LEFTY2 NM_003240.4(LEFTY2): c.424C> G (p.Gln142Glu) single nucleotide variant Uncertain significance rs886046058 GRCh38 Chromosome 1, 225939829: 225939829
30 LEFTY2 NM_003240.4(LEFTY2): c.424C> G (p.Gln142Glu) single nucleotide variant Uncertain significance rs886046058 GRCh37 Chromosome 1, 226127529: 226127529
31 LEFTY2 NM_003240.4(LEFTY2): c.214C> T (p.Arg72Cys) single nucleotide variant Likely benign rs141680926 GRCh38 Chromosome 1, 225940927: 225940927
32 LEFTY2 NM_003240.4(LEFTY2): c.214C> T (p.Arg72Cys) single nucleotide variant Likely benign rs141680926 GRCh37 Chromosome 1, 226128627: 226128627
33 LEFTY2 NM_003240.4(LEFTY2): c.*279G> A single nucleotide variant Uncertain significance rs565668518 GRCh38 Chromosome 1, 225937162: 225937162
34 LEFTY2 NM_003240.4(LEFTY2): c.*279G> A single nucleotide variant Uncertain significance rs565668518 GRCh37 Chromosome 1, 226124862: 226124862
35 LEFTY2 NM_003240.4(LEFTY2): c.*229C> T single nucleotide variant Likely benign rs6662343 GRCh38 Chromosome 1, 225937212: 225937212
36 LEFTY2 NM_003240.4(LEFTY2): c.*229C> T single nucleotide variant Likely benign rs6662343 GRCh37 Chromosome 1, 226124912: 226124912
37 LEFTY2 NM_003240.4(LEFTY2): c.1073C> T (p.Ala358Val) single nucleotide variant Uncertain significance rs151034245 GRCh38 Chromosome 1, 225937469: 225937469
38 LEFTY2 NM_003240.4(LEFTY2): c.1073C> T (p.Ala358Val) single nucleotide variant Uncertain significance rs151034245 GRCh37 Chromosome 1, 226125169: 226125169
39 LEFTY2 NM_003240.4(LEFTY2): c.810T> C (p.Ile270=) single nucleotide variant Uncertain significance rs751370455 GRCh38 Chromosome 1, 225937732: 225937732
40 LEFTY2 NM_003240.4(LEFTY2): c.810T> C (p.Ile270=) single nucleotide variant Uncertain significance rs751370455 GRCh37 Chromosome 1, 226125432: 226125432
41 LEFTY2 NM_003240.4(LEFTY2): c.*730T> C single nucleotide variant Uncertain significance rs747349216 GRCh38 Chromosome 1, 225936711: 225936711
42 LEFTY2 NM_003240.4(LEFTY2): c.*730T> C single nucleotide variant Uncertain significance rs747349216 GRCh37 Chromosome 1, 226124411: 226124411
43 LEFTY2 NM_003240.4(LEFTY2): c.*571C> G single nucleotide variant Uncertain significance rs543240181 GRCh38 Chromosome 1, 225936870: 225936870
44 LEFTY2 NM_003240.4(LEFTY2): c.*571C> G single nucleotide variant Uncertain significance rs543240181 GRCh37 Chromosome 1, 226124570: 226124570
45 LEFTY2 NM_003240.4(LEFTY2): c.*260C> T single nucleotide variant Uncertain significance rs886046057 GRCh38 Chromosome 1, 225937181: 225937181
46 LEFTY2 NM_003240.4(LEFTY2): c.*260C> T single nucleotide variant Uncertain significance rs886046057 GRCh37 Chromosome 1, 226124881: 226124881
47 LEFTY2 NM_003240.4(LEFTY2): c.371C> G (p.Pro124Arg) single nucleotide variant Uncertain significance rs777195213 GRCh38 Chromosome 1, 225939882: 225939882
48 LEFTY2 NM_003240.4(LEFTY2): c.371C> G (p.Pro124Arg) single nucleotide variant Uncertain significance rs777195213 GRCh37 Chromosome 1, 226127582: 226127582
49 LEFTY2 NM_003240.4(LEFTY2): c.-62C> T single nucleotide variant Likely benign rs559715148 GRCh37 Chromosome 1, 226128902: 226128902
50 LEFTY2 NM_003240.4(LEFTY2): c.-62C> T single nucleotide variant Likely benign rs559715148 GRCh38 Chromosome 1, 225941202: 225941202

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 cell projection GO:0042995 9.85 ARMC4 CCDC40 CFAP53 DNAH11 DNAH5 DNAI1
2 microtubule GO:0005874 9.77 DNAH11 DNAH5 DNAI1 DNAI2 INVS
3 dynein complex GO:0030286 9.56 DNAH11 DNAH5 DNAI1 DNAI2
4 outer dynein arm GO:0036157 9.5 DNAH5 DNAI1 DNAI2
5 axoneme GO:0005930 9.43 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI2
6 9+2 motile cilium GO:0097729 9.4 DNAH11 DNAH5
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 32)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 ACVR2B ARMC4 CFC1 DNAH11 DNAI1 NODAL
2 cilium assembly GO:0060271 9.91 CFAP53 DNAH5 DNAI2 NPHP3
3 BMP signaling pathway GO:0030509 9.91 ACVR2B CFC1 GDF1 LEFTY2 NODAL
4 flagellated sperm motility GO:0030317 9.88 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
5 microtubule-based movement GO:0007018 9.87 DNAH11 DNAH5 DNAI1 DNAI2
6 heart looping GO:0001947 9.85 CCDC39 CCDC40 NODAL NPHP3 ZIC3
7 anterior/posterior pattern specification GO:0009952 9.84 ACVR2B CFC1 NODAL ZIC3
8 outer dynein arm assembly GO:0036158 9.8 ARMC4 DNAH5 DNAI1 DNAI2
9 lung development GO:0030324 9.8 ACVR2B CCDC39 CCDC40 NODAL NPHP3 PITX2
10 SMAD protein signal transduction GO:0060395 9.78 GDF1 LEFTY2 NODAL
11 cell development GO:0048468 9.77 GDF1 LEFTY2 NODAL
12 determination of left/right symmetry GO:0007368 9.77 ACVR2B ARMC4 CFAP53 CFC1 DNAH11 DNAH5
13 regulation of MAPK cascade GO:0043408 9.76 GDF1 LEFTY2 NODAL
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.75 GDF1 LEFTY2 NODAL
15 determination of liver left/right asymmetry GO:0071910 9.71 CCDC39 CCDC40 NPHP3 ZIC3
16 determination of digestive tract left/right asymmetry GO:0071907 9.7 CCDC39 CCDC40 ZIC3
17 regulation of cilium beat frequency GO:0003356 9.67 ARMC4 CCDC39 CCDC40 DNAH11
18 motile cilium assembly GO:0044458 9.65 CCDC39 CCDC40
19 inner dynein arm assembly GO:0036159 9.65 CCDC39 CCDC40
20 gastrulation with mouth forming second GO:0001702 9.65 ACVR2B NODAL
21 epithelial cilium movement GO:0003351 9.64 CCDC40 DNAI1
22 left/right axis specification GO:0070986 9.64 PITX2 PKD1L1
23 axonemal dynein complex assembly GO:0070286 9.63 CCDC39 CCDC40
24 nodal signaling pathway GO:0038092 9.62 CFC1 NODAL
25 digestive system development GO:0055123 9.62 NODAL PITX2
26 determination of pancreatic left/right asymmetry GO:0035469 9.62 CCDC39 CCDC40 NPHP3 ZIC3
27 positive regulation of activin receptor signaling pathway GO:0032927 9.59 ACVR2B NODAL
28 left lung morphogenesis GO:0060460 9.56 NODAL PITX2
29 determination of left/right asymmetry in nervous system GO:0035545 9.55 DNAH11 ZIC3
30 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.55 CCDC39 CCDC40 CFAP53 DNAH11 NPHP3
31 cilium movement GO:0003341 9.23 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
32 multicellular organism development GO:0007275 10.17 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 microtubule motor activity GO:0003777 9.54 DNAH11 DNAH5 DNAI2
2 dynein light intermediate chain binding GO:0051959 9.43 DNAH11 DNAH5
3 dynein intermediate chain binding GO:0045505 9.4 DNAH11 DNAH5
4 transforming growth factor beta receptor binding GO:0005160 9.33 GDF1 LEFTY2 NODAL
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH11 DNAH5
6 dynein heavy chain binding GO:0045504 9.26 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....