MCID: VSC013
MIFTS: 51

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 77 30 6 17
Situs Ambiguus 12 60
Incomplete Situs Inversus 60
Partial Situs Inversus 60
Heterotaxy, Visceral 41
Situs Ambiguous 60

Classifications:



External Ids:

Disease Ontology 12 DOID:0050545
ICD10 via Orphanet 35 Q89.3
UMLS via Orphanet 75 C0266642 C1167664
Orphanet 60 ORPHA157769

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 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 Spironolactone and Mineralocorticoids have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and kidney, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 77 Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally... 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 62)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 33.2 ACVR2B CFAP53 CFC1 MMP21 NODAL ZIC3
2 right atrial isomerism 32.4 DNAH5 GDF1 LEFTY2 NPHP3
3 dextrocardia with situs inversus 30.9 CFAP53 MMP21 NODAL PKD1L1
4 dextrocardia 30.7 ACVR2B CFAP53 DNAI1 NODAL
5 double outlet right ventricle 30.7 CFC1 GDF1 ZIC3
6 ventricular septal defect 30.6 GDF1 NODAL ZIC3
7 atrial heart septal defect 30.5 CFC1 GDF1 NODAL
8 heart disease 30.4 CFC1 GDF1 NODAL PITX2 ZIC3
9 primary ciliary dyskinesia 30.1 ARMC4 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2
10 situs inversus 29.9 ARMC4 CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
11 heterotaxy, visceral, 1, x-linked 12.2
12 heterotaxy, visceral, 5, autosomal 12.1
13 heterotaxy, visceral, 2, autosomal 11.5
14 heterotaxy, visceral, 4, autosomal 11.5
15 heterotaxy, visceral, 7, autosomal 11.5
16 heterotaxy, visceral, 8, autosomal 11.5
17 campomelia, cumming type 11.5
18 heterotaxy, visceral, 6, autosomal 11.4
19 heterotaxy, visceral, 3, autosomal 11.2
20 isolated congenitally uncorrected transposition of the great arteries 10.5 CFC1 ZIC3
21 transposition of the great arteries 10.5 GDF1 ZIC3
22 right aortic arch 10.5 ACVR2B CFAP53
23 pulmonary subvalvular stenosis 10.5 INVS NODAL
24 heart septal defect 10.4 CFC1 GDF1 NODAL
25 renal-hepatic-pancreatic dysplasia 10.4 INVS NODAL NPHP3
26 dextro-looped transposition of the great arteries 10.4 CFC1 GDF1 LEFTY2 ZIC3
27 juvenile nephronophthisis 10.4 INVS NPHP3
28 nephronophthisis 18 10.4 INVS NPHP3
29 bronchiectasis 10.4 CCDC40 DNAH5 DNAI1
30 nephronophthisis 1 10.4 INVS NPHP3
31 tricuspid valve disease 10.3 GDF1 ZIC3
32 infantile nephronophthisis 10.3 INVS NPHP3
33 levocardia 10.2
34 nephronophthisis 2 10.2 INVS NPHP3
35 ciliary dyskinesia, primary, 1 10.2 ARMC4 CCDC103 CCDC40 DNAH5 DNAI1 DNAI2
36 dilated cardiomyopathy 10.2
37 isolated levocardia 10.2
38 duodenal obstruction 10.1
39 acute retrobulbar neuritis 10.1 DNAI1 DNAI2
40 tracheoesophageal fistula with or without esophageal atresia 10.1
41 esophageal atresia 10.1
42 splenic infarction 10.1
43 pancreas, annular 10.1
44 holoprosencephaly 10.0
45 atrioventricular block 10.0
46 cholangiocarcinoma 10.0
47 biliary atresia 10.0
48 vascular disease 10.0
49 intrahepatic cholangiocarcinoma 10.0
50 univentricular heart 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:

47 (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 10.41 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 craniofacial MP:0005382 10.21 CCDC39 DNAH11 DNAH5 DNAI1 GDF1 MMP21
9 mortality/aging MP:0010768 10.2 ACVR2B ARMC4 CCDC39 CCDC40 DNAH11 DNAH5
10 liver/biliary system MP:0005370 10.15 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 GDF1
11 nervous system MP:0003631 10.07 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):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
2 Mineralocorticoids Phase 4
3 Hormones Phase 4
4 Natriuretic Agents Phase 4
5 Mineralocorticoid Receptor Antagonists Phase 4
6 Natriuretic Peptide, Brain Phase 4
7 Hormone Antagonists Phase 4
8 diuretics Phase 4
9 Diuretics, Potassium Sparing Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11
Nitric Oxide Approved Phase 3,Not Applicable 10102-43-9 145068
12 Protective Agents Phase 3,Phase 2,Not Applicable
13 Endothelium-Dependent Relaxing Factors Phase 3,Not Applicable
14 Bronchodilator Agents Phase 3,Not Applicable
15 Respiratory System Agents Phase 3,Not Applicable
16 Neurotransmitter Agents Phase 3,Not Applicable
17 Autonomic Agents Phase 3,Not Applicable
18 Anti-Asthmatic Agents Phase 3,Not Applicable
19 Free Radical Scavengers Phase 3,Not Applicable
20 Peripheral Nervous System Agents Phase 3,Not Applicable
21 Antioxidants Phase 3,Not Applicable
22 Vasodilator Agents Phase 3,Phase 2,Not Applicable
23
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
24
Ivacaftor Approved Phase 2 873054-44-5 16220172
25 Simendan Investigational Phase 2 131741-08-7
26 Phosphodiesterase 3 Inhibitors Phase 2
27 Cardiotonic Agents Phase 2
28 Pharmaceutical Solutions Phase 2
29 Phosphodiesterase Inhibitors Phase 2
30 Antihypertensive Agents Phase 2
31
Dobutamine Approved Not Applicable 34368-04-2 36811
32
Mechlorethamine Approved, Investigational 51-75-2 4033
33 Kava Approved, Investigational, Nutraceutical 9000-38-8
34 Liver Extracts
35 3-Iodobenzylguanidine

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Water Immersion in Right-Sided Heart Failure: A Pilot Study Completed NCT00654264 Phase 4
2 Spironolactone Therapy in Chronic Stable Right HF Trial Recruiting NCT03344159 Phase 4 Spironolactone;Placebo
3 Nitric Oxide During Bypass for Arterial Switch Operation Recruiting NCT03661385 Phase 3 Nitric Oxide
4 Open-Label Rollover Study of Levosimendan in PH-HFpEF Patients Recruiting NCT03624010 Phase 2 Levosimendan 2.5 mg/ml Injectable Solution
5 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
6 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Completed NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
7 Cardiovascular MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young Adults Unknown status NCT02415491 Not Applicable
8 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
9 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
10 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
11 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
12 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
13 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
14 Racial Distribution of Heterotaxy Syndrome Terminated NCT00485654
15 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
16 Genetic Analysis of Left-Right Axis Formations Completed NCT00341133
17 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
18 Sudden Cardiac in Systemic Right Ventricle Recruiting NCT03833843
19 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
20 Acute Maternal Hyperoxygenation for Fetal Transposition of the Great Arteries (TGA) Recruiting NCT03771534 Not Applicable Oxygen gas
21 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
22 Fibrosis, Valvular and Ventricular Function in Patients With TGA Recruiting NCT02588989
23 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
24 Physical Training in Transposition of the Great Arteries Completed NCT00837603 Not Applicable
25 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Recruiting NCT03469843
26 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442 Not Applicable
27 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Not yet recruiting NCT03832491 Not Applicable
28 WGS of Korean Idiopathic Bronchiectasis Recruiting NCT03809091
29 PCD New Gene Discovery Recruiting NCT03801395
30 PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients Active, not recruiting NCT03704896
31 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207 Not Applicable
32 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
33 Severe and Transient Hypoxemia During Selective Intra-arterial Chemotherapy for Retinoblastoma in Children: Evaluation of the Right-sided Heart Function. Active, not recruiting NCT03559894
34 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
35 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
36 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Completed NCT03370029
37 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
38 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
39 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
40 High Resolution Micro OCT Imaging Recruiting NCT03256773
41 Portal Flow Pulsatility as a Risk Factor for Acute Kidney Injury After Cardiac Surgery Completed NCT02831907
42 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
43 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
44 Evaluation of Monitoring TECHNOlogies in the PERI-OPerative Care of Cardiac Surgical Patients Completed NCT02658006
45 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
46 Open Lung Strategy in Critically Ill Morbid Obese Patients Active, not recruiting NCT02503241 Not Applicable
47 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
48 Genetics of Primary Ciliary Dyskinesia Active, not recruiting NCT02389049
49 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356 Not Applicable
50 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258

Search NIH Clinical Center for Visceral Heterotaxy

Genetic Tests for Visceral Heterotaxy

Genetic tests related to Visceral Heterotaxy:

# Genetic test Affiliating Genes
1 Heterotaxia 30

Anatomical Context for Visceral Heterotaxy

MalaCards organs/tissues related to Visceral Heterotaxy:

42
Lung, Brain, Kidney, Testes, Spleen, Uterus

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show top 50) (show all 62)
# 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 as an outcome of maternal diabetes: an epidemiological study. ( 11241474 )
2001
32
Heterotaxia: radiological and surgical observations in a case of polysplenic syndrome. ( 11723906 )
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 500)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.468_470dupGGC (p.Ala158_Pro159insAla) duplication Benign rs571387097 GRCh37 Chromosome 19, 18980055: 18980057
2 GDF1 NM_001492.5(GDF1): c.468_470dupGGC (p.Ala158_Pro159insAla) duplication Benign rs571387097 GRCh38 Chromosome 19, 18869246: 18869248
3 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh38 Chromosome 19, 18868791: 18868791
4 CERS1; GDF1 NM_001492.5(GDF1): c.925T> C (p.Ser309Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs864622513 GRCh37 Chromosome 19, 18979600: 18979600
5 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
6 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh38 Chromosome 19, 18869035: 18869035
7 GDF1 NM_001492.5(GDF1): c.485G> A (p.Gly162Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121434424 GRCh37 Chromosome 19, 18980040: 18980040
8 GDF1 NM_001492.5(GDF1): c.485G> A (p.Gly162Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121434424 GRCh38 Chromosome 19, 18869231: 18869231
9 ACVR2B NM_001106.3(ACVR2B): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434437 GRCh37 Chromosome 3, 38518844: 38518844
10 ACVR2B NM_001106.3(ACVR2B): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434437 GRCh38 Chromosome 3, 38477353: 38477353
11 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
12 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 3, 70970756: 70970756
13 NODAL NM_018055.4(NODAL): c.193+12C> T single nucleotide variant Benign rs10999338 GRCh37 Chromosome 10, 72201219: 72201219
14 NODAL NM_018055.4(NODAL): c.193+12C> T single nucleotide variant Benign rs10999338 GRCh38 Chromosome 10, 70441463: 70441463
15 NODAL NM_018055.4(NODAL): c.494A> G (p.His165Arg) single nucleotide variant Benign rs1904589 GRCh37 Chromosome 10, 72195439: 72195439
16 NODAL NM_018055.4(NODAL): c.494A> G (p.His165Arg) single nucleotide variant Benign rs1904589 GRCh38 Chromosome 10, 70435683: 70435683
17 ACVR2B NM_001106.3(ACVR2B): c.1075-5C> T single nucleotide variant Benign/Likely benign rs115155428 GRCh37 Chromosome 3, 38523684: 38523684
18 ACVR2B NM_001106.3(ACVR2B): c.1075-5C> T single nucleotide variant Benign/Likely benign rs115155428 GRCh38 Chromosome 3, 38482193: 38482193
19 ACVR2B NM_001106.3(ACVR2B): c.1344+7G> T single nucleotide variant Benign/Likely benign rs9876823 GRCh37 Chromosome 3, 38524058: 38524058
20 ACVR2B NM_001106.3(ACVR2B): c.1344+7G> T single nucleotide variant Benign/Likely benign rs9876823 GRCh38 Chromosome 3, 38482567: 38482567
21 LEFTY2 NM_003240.4(LEFTY2): c.324G> A (p.Pro108=) single nucleotide variant Benign/Likely benign rs199979438 GRCh37 Chromosome 1, 226127629: 226127629
22 LEFTY2 NM_003240.4(LEFTY2): c.324G> A (p.Pro108=) single nucleotide variant Benign/Likely benign rs199979438 GRCh38 Chromosome 1, 225939929: 225939929
23 LEFTY2 NM_003240.4(LEFTY2): c.497+13C> G single nucleotide variant Benign rs74578461 GRCh38 Chromosome 1, 225939743: 225939743
24 LEFTY2 NM_003240.4(LEFTY2): c.497+13C> G single nucleotide variant Benign rs74578461 GRCh37 Chromosome 1, 226127443: 226127443
25 LEFTY2 NM_003240.4(LEFTY2): c.774C> T (p.Thr258=) single nucleotide variant Benign/Likely benign rs149969900 GRCh37 Chromosome 1, 226125468: 226125468
26 LEFTY2 NM_003240.4(LEFTY2): c.774C> T (p.Thr258=) single nucleotide variant Benign/Likely benign rs149969900 GRCh38 Chromosome 1, 225937768: 225937768
27 LEFTY2 NM_003240.4(LEFTY2): c.857C> T (p.Pro286Leu) single nucleotide variant Benign/Likely benign rs2295418 GRCh37 Chromosome 1, 226125385: 226125385
28 LEFTY2 NM_003240.4(LEFTY2): c.857C> T (p.Pro286Leu) single nucleotide variant Benign/Likely benign rs2295418 GRCh38 Chromosome 1, 225937685: 225937685
29 LEFTY2 NM_003240.4(LEFTY2): c.982G> A (p.Val328Ile) single nucleotide variant Benign/Likely benign rs61731738 GRCh37 Chromosome 1, 226125260: 226125260
30 LEFTY2 NM_003240.4(LEFTY2): c.982G> A (p.Val328Ile) single nucleotide variant Benign/Likely benign rs61731738 GRCh38 Chromosome 1, 225937560: 225937560
31 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
32 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh37 Chromosome 7, 47870812: 47870813
33 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Likely pathogenic rs886037834 GRCh38 Chromosome 7, 47846960: 47846960
34 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Likely pathogenic rs886037834 GRCh37 Chromosome 7, 47886558: 47886558
35 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh37 Chromosome 1, 226127623: 226127623
36 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh38 Chromosome 1, 225939923: 225939923
37 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh38 Chromosome 1, 225939779: 225939779
38 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh37 Chromosome 1, 226127479: 226127479
39 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh38 Chromosome 1, 225940972: 225940972
40 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh37 Chromosome 1, 226128672: 226128672
41 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh37 Chromosome 3, 38519424: 38519424
42 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh38 Chromosome 3, 38477933: 38477933
43 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh37 Chromosome 3, 38521156: 38521156
44 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh38 Chromosome 3, 38479665: 38479665
45 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh37 Chromosome 3, 38524742: 38524742
46 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh38 Chromosome 3, 38483251: 38483251
47 NODAL NM_018055.4(NODAL): c.607G> A (p.Glu203Lys) single nucleotide variant Likely benign rs10999334 GRCh37 Chromosome 10, 72195326: 72195326
48 NODAL NM_018055.4(NODAL): c.607G> A (p.Glu203Lys) single nucleotide variant Likely benign rs10999334 GRCh38 Chromosome 10, 70435570: 70435570
49 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh38 Chromosome 10, 70435589: 70435589
50 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh37 Chromosome 10, 72195345: 72195345

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 11.21 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 9.9 ARMC4 CCDC103 CCDC40 CFAP53 DNAH11 DNAH5
2 microtubule GO:0005874 9.77 DNAH11 DNAH5 DNAI1 DNAI2 INVS
3 motile cilium GO:0031514 9.63 CCDC103 CCDC40 DNAH11
4 dynein complex GO:0030286 9.56 DNAH11 DNAH5 DNAI1 DNAI2
5 outer dynein arm GO:0036157 9.5 DNAH5 DNAI1 DNAI2
6 axoneme GO:0005930 9.5 ARMC4 CCDC103 CCDC39 CCDC40 DNAH11 DNAH5
7 axonemal dynein complex GO:0005858 9.43 DNAH5 DNAI2
8 9+2 motile cilium GO:0097729 9.4 DNAH11 DNAH5
9 cilium GO:0005929 9.4 ARMC4 CCDC103 CCDC39 CCDC40 CFAP53 DNAH11

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 9.97 ACVR2B CFC1 DNAH11 DNAH5 DNAI1 NODAL
2 lung development GO:0030324 9.95 ACVR2B CCDC39 CCDC40 NODAL NPHP3 ZIC3
3 cilium assembly GO:0060271 9.93 CFAP53 DNAH5 DNAI2 NPHP3
4 flagellated sperm motility GO:0030317 9.91 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
5 cell projection organization GO:0030030 9.9 ARMC4 CCDC103 DNAI1 DNAI2
6 anterior/posterior pattern specification GO:0009952 9.88 ACVR2B CFC1 NODAL ZIC3
7 BMP signaling pathway GO:0030509 9.87 ACVR2B CFC1 GDF1 NODAL
8 microtubule-based movement GO:0007018 9.86 DNAH11 DNAH5 DNAI1 DNAI2
9 cell development GO:0048468 9.8 GDF1 LEFTY2 NODAL
10 heart looping GO:0001947 9.8 CCDC103 CCDC39 CCDC40 NODAL NPHP3 ZIC3
11 regulation of MAPK cascade GO:0043408 9.79 GDF1 LEFTY2 NODAL
12 SMAD protein signal transduction GO:0060395 9.78 GDF1 LEFTY2 NODAL
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.77 GDF1 LEFTY2 NODAL
14 determination of left/right symmetry GO:0007368 9.77 ACVR2B ARMC4 CFAP53 CFC1 DNAH11 DNAH5
15 determination of digestive tract left/right asymmetry GO:0071907 9.76 CCDC103 CCDC39 CCDC40 ZIC3
16 determination of liver left/right asymmetry GO:0071910 9.73 CCDC39 CCDC40 NPHP3 ZIC3
17 epithelial cilium movement GO:0003351 9.72 CCDC40 DNAH11 DNAI1
18 inner dynein arm assembly GO:0036159 9.71 CCDC103 CCDC39 CCDC40
19 determination of pancreatic left/right asymmetry GO:0035469 9.71 CCDC39 CCDC40 NPHP3 ZIC3
20 axonemal dynein complex assembly GO:0070286 9.7 CCDC103 CCDC39 CCDC40
21 regulation of cilium beat frequency GO:0003356 9.67 ARMC4 CCDC39 CCDC40 DNAH11
22 motile cilium assembly GO:0044458 9.65 CCDC39 CCDC40
23 gastrulation with mouth forming second GO:0001702 9.65 ACVR2B NODAL
24 left/right axis specification GO:0070986 9.65 PITX2 PKD1L1
25 outer dynein arm assembly GO:0036158 9.65 ARMC4 CCDC103 DNAH5 DNAI1 DNAI2
26 nodal signaling pathway GO:0038092 9.64 CFC1 NODAL
27 determination of heart left/right asymmetry GO:0061371 9.64 DNAH11 MMP21
28 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.63 CCDC103 CCDC39 CCDC40 CFAP53 DNAH11 NPHP3
29 positive regulation of activin receptor signaling pathway GO:0032927 9.61 ACVR2B NODAL
30 determination of left/right asymmetry in nervous system GO:0035545 9.58 DNAH11 ZIC3
31 cilium movement GO:0003341 9.28 ARMC4 CCDC103 CCDC39 CCDC40 CFAP53 DNAH11
32 multicellular organism development GO:0007275 10.18 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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