MCID: VSC013
MIFTS: 47

Visceral Heterotaxy

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 33.0 ACVR2B CFAP53 CFC1 MMP21 NODAL ZIC3
2 right atrial isomerism 32.2 DNAH5 GDF1 LEFTY2 NPHP3
3 dextrocardia with situs inversus 30.7 CFAP53 MMP21 NODAL PKD1L1
4 dextrocardia 30.5 ACVR2B CFAP53 DNAI1 NODAL
5 double outlet right ventricle 30.4 CFC1 GDF1 ZIC3
6 ventricular septal defect 30.4 GDF1 NODAL ZIC3
7 holoprosencephaly 30.3 GDF1 NODAL ZIC4
8 atrial heart septal defect 30.3 CFC1 GDF1 NODAL
9 heart disease 30.2 CFC1 GDF1 NODAL PITX2 ZIC3
10 primary ciliary dyskinesia 30.0 ARMC4 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2
11 situs inversus 29.9 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
12 heterotaxy, visceral, 1, x-linked 12.2
13 heterotaxy, visceral, 5, autosomal 12.0
14 heterotaxy, visceral, 2, autosomal 11.5
15 heterotaxy, visceral, 4, autosomal 11.5
16 heterotaxy, visceral, 7, autosomal 11.5
17 heterotaxy, visceral, 8, autosomal 11.5
18 campomelia, cumming type 11.4
19 heterotaxy, visceral, 6, autosomal 11.4
20 heterotaxy, visceral, 3, autosomal 11.2
21 isolated congenitally uncorrected transposition of the great arteries 10.3 CFC1 ZIC3
22 right aortic arch 10.3 ACVR2B CFAP53
23 pulmonary subvalvular stenosis 10.3 INVS NODAL
24 transposition of the great arteries 10.3 CFAP53 GDF1 ZIC3
25 heart septal defect 10.3 CFC1 GDF1 NODAL
26 renal-hepatic-pancreatic dysplasia 10.3 INVS NODAL NPHP3
27 juvenile nephronophthisis 10.3 INVS NPHP3
28 dextro-looped transposition of the great arteries 10.3 CFC1 GDF1 LEFTY2 ZIC3
29 nephronophthisis 1 10.3 INVS NPHP3
30 nephronophthisis 18 10.2 INVS NPHP3
31 bronchiectasis 10.2 CCDC40 DNAH5 DNAI1
32 infantile nephronophthisis 10.2 INVS NPHP3
33 levocardia 10.2
34 tricuspid valve disease 10.2 GDF1 ZIC3
35 ciliary dyskinesia, primary, 1 10.2 ARMC4 CCDC40 DNAH5 DNAI1 DNAI2
36 nephronophthisis 2 10.2 INVS NPHP3
37 dilated cardiomyopathy 10.1
38 isolated levocardia 10.1
39 duodenal obstruction 10.1
40 acute retrobulbar neuritis 10.1 DNAI1 DNAI2
41 tracheoesophageal fistula with or without esophageal atresia 10.1
42 esophageal atresia 10.1
43 splenic infarction 10.1
44 pancreas, annular 10.0
45 kartagener syndrome 10.0 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
46 intestinal volvulus 10.0
47 cholangiocarcinoma 10.0
48 biliary atresia 10.0
49 vascular disease 10.0
50 intrahepatic cholangiocarcinoma 10.0

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 10.44 ACVR2B ARMC4 CCDC39 CFAP53 DNAH11 DNAH5
2 growth/size/body region MP:0005378 10.43 ACVR2B ARMC4 CCDC39 CCDC40 CFAP53 DNAH11
3 cellular MP:0005384 10.37 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
4 hematopoietic system MP:0005397 10.28 ACVR2B ARMC4 CCDC39 CFAP53 DNAH11 DNAH5
5 digestive/alimentary MP:0005381 10.27 ARMC4 CCDC39 DNAH11 DNAH5 GDF1 INVS
6 embryo MP:0005380 10.26 ACVR2B CCDC40 CFAP53 DNAH11 GDF1 INVS
7 immune system MP:0005387 10.25 ACVR2B ARMC4 CCDC39 CFAP53 DNAH11 DNAH5
8 mortality/aging MP:0010768 10.22 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
9 craniofacial MP:0005382 10.21 CCDC39 DNAH11 DNAH5 DNAI1 GDF1 MMP21
10 liver/biliary system MP:0005370 10.15 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 GDF1
11 nervous system MP:0003631 10.1 ARMC4 CCDC39 CCDC40 CFAP53 DNAH5 DNAI1
12 respiratory system MP:0005388 9.89 ACVR2B ARMC4 CCDC39 CCDC40 CFAP53 DNAH11
13 renal/urinary system MP:0005367 9.81 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 GDF1
14 skeleton MP:0005390 9.36 ACVR2B CCDC39 DNAH11 DNAH5 DNAI1 GDF1

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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
6 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
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, Pancreas, Uterus

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show top 50) (show all 63)
# 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
Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome. ( 30247160 )
2018
4
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. ( 25829475 )
2015
5
Heterotaxia with Polysplenia. ( 26051344 )
2015
6
Total anomalous systemic venous drainage with heterotaxia syndrome: a rare case. ( 25197579 )
2014
7
Heterotaxia associated with polysplenia. ( 25352385 )
2014
8
A case of unusual visceral heterotaxy syndrome with isolated levocardia. ( 24255657 )
2013
9
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. ( 22843201 )
2013
10
Visceral heterotaxy in the developing world. ( 22726404 )
2012
11
Visceral heterotaxy and malrotation in a neonate. ( 22411653 )
2012
12
Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects. ( 27625802 )
2012
13
Transjugular approach to device closure of atrial septal defect in a child with heterotaxia and interrupted inferior vena cava. ( 22719163 )
2012
14
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. ( 21233261 )
2011
15
Raoultella ornithinolytica bacteremia in an infant with visceral heterotaxy. ( 20072080 )
2010
16
Echocardiographic diagnosis of bilateral ductus with discontinuous branch pulmonary arteries and heterotaxia syndrome. ( 20383703 )
2010
17
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
18
Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia. ( 17336193 )
2007
19
Midgut volvulus in an adult patient with malrotation and abdominal heterotaxia: a case report. ( 17410390 )
2007
20
Surgical repair of coronary sinus orifice atresia with persistent left superior vena cava in heterotaxia. ( 17554993 )
2007
21
Management of rotation abnormalities in children with heterotaxia. ( 17706521 )
2007
22
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. ( 16401367 )
2006
23
Heterotaxia syndromes and their abdominal manifestations. ( 16721152 )
2006
24
Splenic state in surviving patients with visceral heterotaxy. ( 16164783 )
2005
25
Visceral heterotaxy, isomerism, and splenic structure. ( 16164784 )
2005
26
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes. ( 15523630 )
2005
27
Trisomy 8 mosaicism in a patient with heterotaxia. ( 15578648 )
2005
28
SIR 2005 film panel case: heterotaxia with polysplenia. ( 16105916 )
2005
29
Evaluation of spleen in children with heterotaxia and congenital heart disease. ( 15103973 )
2004
30
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
31
Heterotaxia: radiological and surgical observations in a case of polysplenic syndrome. ( 11723906 )
2001
32
Heterotaxia as an outcome of maternal diabetes: an epidemiological study. ( 11241474 )
2001
33
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. ( 11117404 )
2000
34
Isomeric arrangement of the left atrial appendages and visceral heterotaxy: two atypical cases. ( 10817298 )
2000
35
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. ( 11045684 )
2000
36
Atrial structure in the presence of visceral heterotaxy. ( 10950326 )
2000
37
A canine case of partial heterotaxia detected by radiography and ultrasound. ( 10993189 )
2000
38
Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. ( 10340650 )
1999
39
The Fontan type procedure in patients with visceral heterotaxy. ( 9855091 )
1998
40
Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases. ( 9141378 )
1997
41
Familial heterotaxia: what is the inheritance in this family? ( 9098496 )
1997
42
Orthotopic heart transplantation in a child with heterotaxia syndrome: a case report. ( 9436141 )
1997
43
Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia. ( 9560952 )
1997
44
Venoarterial connections in visceral heterotaxy. ( 8622310 )
1996
45
De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia. ( 8958327 )
1996
46
Heterotaxia syndromes and 22q11 deletion. ( 9004146 )
1996
47
The genetics of left-right development and heterotaxia. ( 9090782 )
1996
48
Visceral heterotaxy syndrome induced by retinoids in mouse embryo. ( 8593204 )
1995
49
Atrial appendages and venoatrial connections in hearts from patients with visceral heterotaxy. ( 7677481 )
1995
50
Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. ( 7572671 )
1995

Variations for Visceral Heterotaxy

ClinVar genetic disease variations for Visceral Heterotaxy:

6 (show top 50) (show all 480)
# 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.485G> A (p.Gly162Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121434424 GRCh37 Chromosome 19, 18980040: 18980040
4 GDF1 NM_001492.5(GDF1): c.485G> A (p.Gly162Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121434424 GRCh38 Chromosome 19, 18869231: 18869231
5 ACVR2B NM_001106.3(ACVR2B): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434437 GRCh37 Chromosome 3, 38518844: 38518844
6 ACVR2B NM_001106.3(ACVR2B): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434437 GRCh38 Chromosome 3, 38477353: 38477353
7 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
8 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 3, 70970756: 70970756
9 NODAL NM_018055.4(NODAL): c.193+12C> T single nucleotide variant Benign rs10999338 GRCh37 Chromosome 10, 72201219: 72201219
10 NODAL NM_018055.4(NODAL): c.193+12C> T single nucleotide variant Benign rs10999338 GRCh38 Chromosome 10, 70441463: 70441463
11 NODAL NM_018055.4(NODAL): c.494A> G (p.His165Arg) single nucleotide variant Benign rs1904589 GRCh37 Chromosome 10, 72195439: 72195439
12 NODAL NM_018055.4(NODAL): c.494A> G (p.His165Arg) single nucleotide variant Benign rs1904589 GRCh38 Chromosome 10, 70435683: 70435683
13 ACVR2B NM_001106.3(ACVR2B): c.1075-5C> T single nucleotide variant Benign/Likely benign rs115155428 GRCh37 Chromosome 3, 38523684: 38523684
14 ACVR2B NM_001106.3(ACVR2B): c.1075-5C> T single nucleotide variant Benign/Likely benign rs115155428 GRCh38 Chromosome 3, 38482193: 38482193
15 ACVR2B NM_001106.3(ACVR2B): c.1344+7G> T single nucleotide variant Benign/Likely benign rs9876823 GRCh37 Chromosome 3, 38524058: 38524058
16 ACVR2B NM_001106.3(ACVR2B): c.1344+7G> T single nucleotide variant Benign/Likely benign rs9876823 GRCh38 Chromosome 3, 38482567: 38482567
17 LEFTY2 NM_003240.4(LEFTY2): c.324G> A (p.Pro108=) single nucleotide variant Benign/Likely benign rs199979438 GRCh37 Chromosome 1, 226127629: 226127629
18 LEFTY2 NM_003240.4(LEFTY2): c.324G> A (p.Pro108=) single nucleotide variant Benign/Likely benign rs199979438 GRCh38 Chromosome 1, 225939929: 225939929
19 LEFTY2 NM_003240.4(LEFTY2): c.497+13C> G single nucleotide variant Benign rs74578461 GRCh38 Chromosome 1, 225939743: 225939743
20 LEFTY2 NM_003240.4(LEFTY2): c.497+13C> G single nucleotide variant Benign rs74578461 GRCh37 Chromosome 1, 226127443: 226127443
21 LEFTY2 NM_003240.4(LEFTY2): c.774C> T (p.Thr258=) single nucleotide variant Benign/Likely benign rs149969900 GRCh37 Chromosome 1, 226125468: 226125468
22 LEFTY2 NM_003240.4(LEFTY2): c.774C> T (p.Thr258=) single nucleotide variant Benign/Likely benign rs149969900 GRCh38 Chromosome 1, 225937768: 225937768
23 LEFTY2 NM_003240.4(LEFTY2): c.857C> T (p.Pro286Leu) single nucleotide variant Benign/Likely benign rs2295418 GRCh37 Chromosome 1, 226125385: 226125385
24 LEFTY2 NM_003240.4(LEFTY2): c.857C> T (p.Pro286Leu) single nucleotide variant Benign/Likely benign rs2295418 GRCh38 Chromosome 1, 225937685: 225937685
25 LEFTY2 NM_003240.4(LEFTY2): c.982G> A (p.Val328Ile) single nucleotide variant Benign/Likely benign rs61731738 GRCh37 Chromosome 1, 226125260: 226125260
26 LEFTY2 NM_003240.4(LEFTY2): c.982G> A (p.Val328Ile) single nucleotide variant Benign/Likely benign rs61731738 GRCh38 Chromosome 1, 225937560: 225937560
27 GDF1 NM_001492.5(GDF1): c.468_470dupGGC (p.Ala158_Pro159insAla) duplication Benign rs571387097 GRCh37 Chromosome 19, 18980055: 18980057
28 GDF1 NM_001492.5(GDF1): c.468_470dupGGC (p.Ala158_Pro159insAla) duplication Benign rs571387097 GRCh38 Chromosome 19, 18869246: 18869248
29 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh38 Chromosome 19, 18868791: 18868791
30 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh37 Chromosome 19, 18979600: 18979600
31 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh37 Chromosome 1, 226127623: 226127623
32 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh38 Chromosome 1, 225939923: 225939923
33 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh38 Chromosome 1, 225939779: 225939779
34 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh37 Chromosome 1, 226127479: 226127479
35 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh38 Chromosome 1, 225940972: 225940972
36 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh37 Chromosome 1, 226128672: 226128672
37 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh37 Chromosome 3, 38519424: 38519424
38 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh38 Chromosome 3, 38477933: 38477933
39 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh37 Chromosome 3, 38521156: 38521156
40 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh38 Chromosome 3, 38479665: 38479665
41 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh37 Chromosome 3, 38524742: 38524742
42 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh38 Chromosome 3, 38483251: 38483251
43 NODAL NM_018055.4(NODAL): c.607G> A (p.Glu203Lys) single nucleotide variant Likely benign rs10999334 GRCh37 Chromosome 10, 72195326: 72195326
44 NODAL NM_018055.4(NODAL): c.607G> A (p.Glu203Lys) single nucleotide variant Likely benign rs10999334 GRCh38 Chromosome 10, 70435570: 70435570
45 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh38 Chromosome 10, 70435589: 70435589
46 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh37 Chromosome 10, 72195345: 72195345
47 GDF1 NM_001492.5(GDF1): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs181918871 GRCh38 Chromosome 19, 18869328: 18869328
48 GDF1 NM_001492.5(GDF1): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs181918871 GRCh37 Chromosome 19, 18980137: 18980137
49 MMP21 NM_147191.1(MMP21): c.1203G> A (p.Trp401Ter) single nucleotide variant Likely pathogenic rs137955225 GRCh37 Chromosome 10, 127458937: 127458937
50 MMP21 NM_147191.1(MMP21): c.1203G> A (p.Trp401Ter) single nucleotide variant Likely pathogenic rs137955225 GRCh38 Chromosome 10, 125770368: 125770368

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 axonemal dynein complex GO:0005858 9.43 DNAH5 DNAI2
6 axoneme GO:0005930 9.43 ARMC4 CCDC39 CCDC40 DNAH11 DNAH5 DNAI2
7 9+2 motile cilium GO:0097729 9.4 DNAH11 DNAH5
8 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 31)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 ACVR2B ARMC4 CFC1 DNAH11 DNAH5 DNAI1
2 cilium assembly GO:0060271 9.91 CFAP53 DNAH5 DNAI2 NPHP3
3 flagellated sperm motility GO:0030317 9.89 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
4 heart looping GO:0001947 9.88 CCDC39 CCDC40 NODAL NPHP3 ZIC3
5 lung development GO:0030324 9.88 ACVR2B CCDC39 CCDC40 NODAL NPHP3 ZIC3
6 anterior/posterior pattern specification GO:0009952 9.87 ACVR2B CFC1 NODAL ZIC3
7 BMP signaling pathway GO:0030509 9.85 ACVR2B CFC1 GDF1 NODAL
8 microtubule-based movement GO:0007018 9.84 DNAH11 DNAH5 DNAI1 DNAI2
9 cell development GO:0048468 9.78 GDF1 LEFTY2 NODAL
10 regulation of MAPK cascade GO:0043408 9.77 GDF1 LEFTY2 NODAL
11 determination of left/right symmetry GO:0007368 9.77 ACVR2B ARMC4 CFAP53 CFC1 DNAH11 DNAH5
12 SMAD protein signal transduction GO:0060395 9.76 GDF1 LEFTY2 NODAL
13 outer dynein arm assembly GO:0036158 9.76 ARMC4 DNAH5 DNAI1 DNAI2
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.75 GDF1 LEFTY2 NODAL
15 epithelial cilium movement GO:0003351 9.7 CCDC40 DNAH11 DNAI1
16 determination of digestive tract left/right asymmetry GO:0071907 9.69 CCDC39 CCDC40 ZIC3
17 determination of liver left/right asymmetry GO:0071910 9.67 CCDC39 CCDC40 NPHP3 ZIC3
18 motile cilium assembly GO:0044458 9.65 CCDC39 CCDC40
19 gastrulation with mouth forming second GO:0001702 9.65 ACVR2B NODAL
20 inner dynein arm assembly GO:0036159 9.64 CCDC39 CCDC40
21 left/right axis specification GO:0070986 9.64 PITX2 PKD1L1
22 axonemal dynein complex assembly GO:0070286 9.63 CCDC39 CCDC40
23 nodal signaling pathway GO:0038092 9.63 CFC1 NODAL
24 determination of heart left/right asymmetry GO:0061371 9.62 DNAH11 MMP21
25 determination of pancreatic left/right asymmetry GO:0035469 9.62 CCDC39 CCDC40 NPHP3 ZIC3
26 positive regulation of activin receptor signaling pathway GO:0032927 9.59 ACVR2B NODAL
27 determination of left/right asymmetry in nervous system GO:0035545 9.56 DNAH11 ZIC3
28 regulation of cilium beat frequency GO:0003356 9.56 ARMC4 CCDC39 CCDC40 DNAH11
29 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.55 CCDC39 CCDC40 CFAP53 DNAH11 NPHP3
30 cilium movement GO:0003341 9.23 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
31 multicellular organism development GO:0007275 10.16 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 9.46 DNAH11 DNAH5
2 dynein light intermediate chain binding GO:0051959 9.43 DNAH11 DNAH5
3 microtubule motor activity GO:0003777 9.43 DNAH11 DNAH5 DNAI2
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.4 DNAI1 DNAI2
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.37 DNAH11 DNAH5
6 transforming growth factor beta receptor binding GO:0005160 9.33 GDF1 LEFTY2 NODAL
7 dynein heavy chain binding GO:0045504 9.32 DNAI1 DNAI2
8 motor activity GO:0003774 9.26 DNAH11 DNAH5 DNAI1 DNAI2
9 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....