MCID: VSC013
MIFTS: 53

Visceral Heterotaxy

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

Aliases & Classifications for Visceral Heterotaxy

MalaCards integrated aliases for Visceral Heterotaxy:

Name: Visceral Heterotaxy 12 58 15
Heterotaxia 12 73 58 29 6 17
Situs Ambiguus 12 58 29
Incomplete Situs Inversus 58
Partial Situs Inversus 58
Lateralization Defect 58
Heterotaxia Syndrome 6
Heterotaxy, Visceral 39
Heterotaxy Syndrome 58
Situs Ambiguous 58

Characteristics:

Orphanet epidemiological data:

58
heterotaxia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050545
ICD10 via Orphanet 33 Q89.3
UMLS via Orphanet 71 C0266642 C1167664 C3178805

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 MMP21 (Matrix Metallopeptidase 21), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. The drug Kava has been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and pancreas, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 73 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 179)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 33.0 ZIC3 PKD1L1 NODAL MMP21 GDF1 CFC1
2 right atrial isomerism 32.5 ZIC3 NODAL LEFTY2 INVS GDF1 DNAI1
3 dextrocardia 31.2 ZIC3 NODAL LEFTY2 DNAI1 DNAH5 DNAH11
4 double outlet right ventricle 31.0 ZIC3 NODAL LEFTY2 GDF1 DNAH5 DNAH11
5 dextro-looped transposition of the great arteries 31.0 ZIC3 PKD1L1 NODAL GDF1 DNAI1 DNAH5
6 heart septal defect 31.0 ZIC3 NODAL CFC1
7 ventricular septal defect 31.0 ZIC3 NODAL GDF1
8 situs inversus 31.0 RSPH9 INVS DNAI2 DNAI1 DNAH9 DNAH5
9 tetralogy of fallot 30.8 ZIC3 NODAL LEFTY2 GDF1 CFC1 CERS1
10 heart disease 30.8 ZIC3 NODAL GDF1 DNAI1 DNAH5 DNAH11
11 atrioventricular septal defect 30.8 ZIC3 NODAL LEFTY2 GDF1 CFC1
12 bronchiectasis 30.7 RSPH9 DNAI2 DNAI1 DNAH5 DNAH11 CCDC40
13 holoprosencephaly 30.6 ZIC4 ZIC3 NODAL GDF1
14 hypoplastic left heart syndrome 30.6 ZIC3 NODAL CFC1 CFAP53
15 meckel syndrome, type 1 30.6 ZIC3 LEFTY2 INVS GDF1 DNAI1 DNAH5
16 dextrocardia with situs inversus 30.6 PKD1L1 NODAL MMP21 DNAH9 CFAP53
17 primary ciliary dyskinesia 30.5 ZIC3 RSPH9 PKD1L1 NODAL MMP21 LEFTY2
18 patent ductus arteriosus 1 30.5 ZIC3 NODAL LEFTY2 CFC1
19 pulmonary valve stenosis 30.5 ZIC3 LEFTY2 CFC1
20 right aortic arch 30.4 CFAP53 ACVR2B
21 atrial heart septal defect 30.4 ZIC3 NODAL CFC1
22 heterotaxy, visceral, 5, autosomal 11.6
23 heterotaxy, visceral, 1, x-linked 11.6
24 heterotaxy, visceral, 7, autosomal 11.4
25 heterotaxy, visceral, 8, autosomal 11.4
26 heterotaxy, visceral, 9, autosomal, with male infertility 11.4
27 heterotaxy, visceral, 2, autosomal 11.3
28 heterotaxy, visceral, 4, autosomal 11.3
29 atrioventricular septal defect 2 11.3
30 heterotaxy, visceral, 6, autosomal 11.2
31 heterotaxy, visceral, 3, autosomal 11.1
32 cardiac anomalies-heterotaxy syndrome 11.0
33 campomelia, cumming type 11.0
34 pancreas, dorsal, agenesis of 11.0
35 total anomalous pulmonary venous return 1 10.6 ZIC3 NODAL GDF1 CFC1
36 middle ear disease 10.6 RSPH9 DNAI2 DNAI1 DNAH5 DNAH11 CCDC40
37 ciliary dyskinesia, primary, 8 10.6 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
38 osteogenesis imperfecta, type xiv 10.6 DNAH9 DNAH5 CFAP53
39 ciliary dyskinesia, primary, 4 10.6 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
40 ciliary dyskinesia, primary, 2 10.6 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
41 paranasal sinus disease 10.5 RSPH9 DNAI2 DNAI1 DNAH5 DNAH11 CCDC40
42 kartagener syndrome 10.5 ZIC3 RSPH9 PKD1L1 LEFTY2 INVS GDF1
43 pulmonary valve disease 10.5 ZIC3 LEFTY2 CFC1
44 isolated congenitally uncorrected transposition of the great arteries 10.5 ZIC3 CFC1
45 ciliary dyskinesia, primary, 1 10.5 RSPH9 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
46 joubert syndrome 1 10.5 PKD1L1 LEFTY2 INVS DNAI1 DNAH9 DNAH5
47 polycystic kidney disease 2 with or without polycystic liver disease 10.5 PKD1L1 LEFTY2 INVS
48 male infertility 10.5 DNAI1 DNAH9 DNAH5 DNAH11 CCDC40
49 infertility 10.5 LEFTY2 DNAI1 DNAH5 DNAH11 CCDC39
50 epilepsy, progressive myoclonic, 8 10.5 GDF1 CERS1

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 growth/size/body region MP:0005378 10.41 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH11
2 cardiovascular system MP:0005385 10.38 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 DNAI1
3 cellular MP:0005384 10.37 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH11
4 hematopoietic system MP:0005397 10.25 ACVR2B CCDC39 CERS1 CFAP53 DNAH11 DNAH5
5 mortality/aging MP:0010768 10.22 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH11
6 digestive/alimentary MP:0005381 10.19 CCDC39 DNAH11 DNAH5 GDF1 INVS LEFTY2
7 embryo MP:0005380 10.18 ACVR2B CCDC40 CFAP53 DNAH11 GDF1 INVS
8 immune system MP:0005387 10.18 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 DNAI1
9 craniofacial MP:0005382 10.16 CCDC39 DNAH11 DNAH5 DNAI1 GDF1 MMP21
10 liver/biliary system MP:0005370 10.11 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 GDF1
11 nervous system MP:0003631 10.1 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH5
12 respiratory system MP:0005388 9.86 ACVR2B CCDC39 CCDC40 CFAP53 DNAH11 DNAH5
13 renal/urinary system MP:0005367 9.76 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 GDF1
14 skeleton MP:0005390 9.32 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
2 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
3 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
4 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
5 Racial Distribution of Heterotaxy Syndrome and Effects on Clinical Outcomes Protocol 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 Situs Ambiguus 29
2 Heterotaxia 29

Anatomical Context for Visceral Heterotaxy

MalaCards organs/tissues related to Visceral Heterotaxy:

40
Heart, Spleen, Pancreas, Kidney, Uterus, Liver, Breast

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show top 50) (show all 299)
# Title Authors PMID Year
1
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 6
26437028 2015
2
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. 6
25504577 2015
3
Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3. 6
23872418 2013
4
A human laterality disorder associated with recessive CCDC11 mutation. 6
22577226 2012
5
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 6
20413652 2010
6
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 6
19064609 2009
7
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 6
18716025 2008
8
Characterization of the interactions of human ZIC3 mutants with GLI3. 6
17764085 2008
9
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. 6
17295247 2007
10
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. 6
14681828 2004
11
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 6
11799476 2002
12
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 6
11062482 2000
13
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. 6
9916847 1999
14
X-linked situs abnormalities result from mutations in ZIC3. 6
9354794 1997
15
X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. 6
3674105 1987
16
The diagnostic potential of targeted imaging of the fetal pancreas. 61
33778984 2021
17
Asymmetric Hapln1a drives regionalised cardiac ECM expansion and promotes heart morphogenesis in zebrafish development. 61
33616638 2021
18
Variants in RABL2A causing male infertility and ciliopathy. 61
33075816 2020
19
Laparoscopic and left thoracoscopic Ivor-Lewis esophagectomy for Siewert type II esophagogastric junction cancer with right aortic arch: a case report. 61
33206231 2020
20
Fatal pneumococcal septicemia in a girl with visceral heterotaxy and polysplenia: a case report. 61
32405984 2020
21
Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome. 61
31843215 2020
22
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. 61
31026592 2020
23
Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy. 61
31037095 2019
24
Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome. 61
30247160 2018
25
Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome. 61
30585568 2018
26
Roultella ornithinolytica infection in infancy: a case of febrile urinary tract infection. 61
29721836 2018
27
Congenital portosystemic shunts: diagnosis and treatment. 61
29730740 2018
28
Intrahepatic cholangiocarcinoma after Fontan procedure in an adult with visceral heterotaxy. 61
29559246 2018
29
Animal left-right asymmetry. 61
29614284 2018
30
[Characteristics and prognosis of interrupted inferior vena cava with azygous continuation]. 61
29609227 2018
31
Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener's syndrome. 61
29402277 2018
32
Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy? 61
29415491 2018
33
Dilated cardiomyopathy complicated with visceral heterotaxy. 61
29040450 2018
34
The Role of Cerl2 in the Establishment of Left-Right Asymmetries during Axis Formation and Heart Development. 61
29367552 2017
35
Vertebrate Left-Right Asymmetry: What Can Nodal Cascade Gene Expression Patterns Tell Us? 61
29367579 2017
36
Protein Losing Enteropathy After Cardiac Transplantation Successfully Treated by Stent Implantation. 61
27549730 2017
37
Cell lineage of timed cohorts of Tbx6-expressing cells in wild-type and Tbx6 mutant embryos. 61
28606934 2017
38
Isolated severe leftward displacement of the septum primum: anatomic and 3D echocardiographic findings and surgical repair. 61
28329229 2017
39
Incidentally detected asplenia in a healthy 64-year-old female live kidney donor. 61
28473921 2017
40
Respiratory syncytial virus hospitalization risk in the second year of life by specific congenital heart disease diagnoses. 61
28253361 2017
41
Mechanism responsible for D-transposition of the great arteries: Is this part of the spectrum of right isomerism? 61
27329052 2016
42
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. 61
25829475 2016
43
Hemiretinal Artery Occlusion in an 11-Year-Old Child with Dextrocardia. 61
28050295 2016
44
A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 61
26429889 2015
45
Heterotaxia with Polysplenia. 61
26051344 2015
46
Hyperglycemia impairs left-right axis formation and thereby disturbs heart morphogenesis in mouse embryos. 61
26351675 2015
47
The importance of being isomeric. 61
25782978 2015
48
Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009. 61
25711982 2015
49
Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy. 61
26180693 2015
50
[An exceptional combination of pulmonary and systemic venous return in a case of heterotaxia syndrome]. 61
24785447 2015

Variations for Visceral Heterotaxy

ClinVar genetic disease variations for Visceral Heterotaxy:

6 (show top 50) (show all 485)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXP1 NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser) SNV association 55847 rs147674680 GRCh37: 3:71019907-71019907
GRCh38: 3:70970756-70970756
2 CFC1 NM_032545.3(CFC1):c.361_362+18dup Duplication Pathogenic 5190 rs863223280 GRCh37: 2:131355422-131355423
GRCh38: 2:130597849-130597850
3 NODAL NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) SNV Pathogenic 8268 rs104894169 GRCh37: 10:72195385-72195385
GRCh38: 10:70435629-70435629
4 PKD1L1 NM_138295.5(PKD1L1):c.160+1G>A SNV Pathogenic 873155 rs753911740 GRCh37: 7:47982992-47982992
GRCh38: 7:47943395-47943395
5 CFAP53 NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter) SNV Pathogenic 997463 GRCh37: 18:47777247-47777247
GRCh38: 18:50250877-50250877
6 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) SNV Pathogenic 265317 rs145119918 GRCh37: 10:127456139-127456139
GRCh38: 10:125767570-125767570
7 overlap with 543 genes NC_000023.10:g.36649710_136649711del100000002insG Indel Pathogenic 545551 GRCh37: X:36649710-136649711
GRCh38:
8 CERS1 , GDF1 NM_001492.6(GDF1):c.289del (p.Val97fs) Deletion Pathogenic 850258 GRCh37: 19:18980828-18980828
GRCh38: 19:18870019-18870019
9 ZIC3 NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter) SNV Pathogenic 853140 GRCh37: X:136648978-136648978
GRCh38: X:137566819-137566819
10 ZIC3 NM_003413.4(ZIC3):c.508_514del (p.Ala170fs) Deletion Pathogenic 951637 GRCh37: X:136649354-136649360
GRCh38: X:137567195-137567201
11 MMP21 NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) SNV Pathogenic 289001 rs137955225 GRCh37: 10:127458937-127458937
GRCh38: 10:125770368-125770368
12 NODAL NODAL, 9-BP INS/24-BP DEL, NT700 Indel Pathogenic 8270 GRCh37:
GRCh38:
13 NODAL NM_018055.5(NODAL):c.446del (p.Gly149fs) Deletion Pathogenic 663619 rs1589152470 GRCh37: 10:72195487-72195487
GRCh38: 10:70435731-70435731
14 NODAL NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) SNV Pathogenic 986360 GRCh37: 10:72195342-72195342
GRCh38: 10:70435586-70435586
15 ACVR2B NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) SNV Pathogenic 6859 rs121434438 GRCh37: 3:38524764-38524764
GRCh38: 3:38483273-38483273
16 ZIC3 NM_003413.4(ZIC3):c.968C>T (p.Thr323Met) SNV Pathogenic 11433 rs122462165 GRCh37: X:136649818-136649818
GRCh38: X:137567659-137567659
17 ZIC3 NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter) SNV Pathogenic 11434 rs122462166 GRCh37: X:136649654-136649654
GRCh38: X:137567495-137567495
18 ZIC3 NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) SNV Pathogenic 11436 rs104894960 GRCh37: X:136649595-136649595
GRCh38: X:137567436-137567436
19 ZIC3 NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser) SNV Pathogenic 11437 rs104894961 GRCh37: X:136649608-136649608
GRCh38: X:137567449-137567449
20 ZIC3 NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) SNV Pathogenic 11438 rs104894962 GRCh37: X:136651213-136651213
GRCh38: X:137569054-137569054
21 ZIC3 NM_003413.4(ZIC3):c.972_973insTT (p.Glu325fs) Insertion Pathogenic 11440 GRCh37: X:136649822-136649823
GRCh38: X:137567663-137567664
22 ZIC3 NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly) SNV Pathogenic 11441 rs122463168 GRCh37: X:136649613-136649613
GRCh38: X:137567454-137567454
23 CFAP53 CCDC11, IVS6DS, G-A, +1 SNV Pathogenic 37014 GRCh37:
GRCh38:
24 CFAP53 NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter) SNV Pathogenic 208550 rs375801610 GRCh37: 18:47788538-47788538
GRCh38: 18:50262168-50262168
25 ZIC3 NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del Deletion Pathogenic 216089 GRCh37:
GRCh38:
26 CFC1 NM_001270420.1(CFC1):c.248-293C>T SNV Pathogenic 5187 rs104893611 GRCh37: 2:131355469-131355469
GRCh38: 2:130597896-130597896
27 CFC1 NM_032545.3(CFC1):c.522del (p.Ala175fs) Deletion Pathogenic 5188 rs746231039 GRCh37: 2:131350600-131350600
GRCh38: 2:130593027-130593027
28 ZIC3 NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs) Deletion Pathogenic 464967 rs1556029841 GRCh37: X:136649325-136649328
GRCh38: X:137567166-137567169
29 ZIC3 NM_003413.4(ZIC3):c.535dup (p.Val179fs) Duplication Pathogenic 570392 rs1569345723 GRCh37: X:136649384-136649385
GRCh38: X:137567225-137567226
30 ZIC3 NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) SNV Pathogenic 545552 rs1203069392 GRCh37: X:136649605-136649605
GRCh38: X:137567446-137567446
31 ZIC3 NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) SNV Pathogenic 545553 rs122463167 GRCh37: X:136649607-136649607
GRCh38: X:137567448-137567448
32 ZIC3 NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) SNV Pathogenic 545554 rs1569345504 GRCh37: X:136648978-136648978
GRCh38: X:137566819-137566819
33 ZIC3 NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) Deletion Pathogenic 545555 rs1569345742 GRCh37: X:136649441-136649457
GRCh38: X:137567282-137567298
34 ZIC3 NM_003413.4(ZIC3):c.571del (p.Glu191fs) Deletion Pathogenic 645837 rs1602742808 GRCh37: X:136649418-136649418
GRCh38: X:137567259-137567259
35 MMP21 NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) SNV Pathogenic 545547 rs145789868 GRCh37: 10:127462454-127462454
GRCh38: 10:125773885-125773885
36 CERS1 , GDF1 NM_001492.6(GDF1):c.523_586dup (p.Ala196fs) Duplication Pathogenic 665854 rs1601143502 GRCh37: 19:18979938-18979939
GRCh38: 19:18869129-18869130
37 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) SNV Likely pathogenic 265317 rs145119918 GRCh37: 10:127456139-127456139
GRCh38: 10:125767570-125767570
38 MMP21 NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) SNV Likely pathogenic 545548 rs1312300020 GRCh37: 10:127462540-127462540
GRCh38: 10:125773971-125773971
39 CERS1 , GDF1 NM_001492.6(GDF1):c.189G>A (p.Trp63Ter) SNV Likely pathogenic 664346 rs1487660277 GRCh37: 19:18980928-18980928
GRCh38: 19:18870119-18870119
40 MMP21 NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) SNV Likely pathogenic 289001 rs137955225 GRCh37: 10:127458937-127458937
GRCh38: 10:125770368-125770368
41 CERS1 , GDF1 NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) Deletion Likely pathogenic 410641 rs768027510 GRCh37: 19:18979475-18979478
GRCh38: 19:18868666-18868669
42 ZIC3 NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) SNV Likely pathogenic 279591 rs886041111 GRCh37: X:136649614-136649614
GRCh38: X:137567455-137567455
43 NODAL NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) SNV Likely pathogenic 8269 rs121909283 GRCh37: 10:72195155-72195155
GRCh38: 10:70435399-70435399
44 NODAL NM_018055.5(NODAL):c.700_707del (p.Arg234fs) Deletion Likely pathogenic 545543 rs1564667180 GRCh37: 10:72195226-72195233
GRCh38: 10:70435470-70435477
45 NODAL NM_018055.5(NODAL):c.194-1G>T SNV Likely pathogenic 545544 rs1564667617 GRCh37: 10:72195740-72195740
GRCh38: 10:70435984-70435984
46 NODAL NM_018055.5(NODAL):c.891+1G>A SNV Likely pathogenic 241245 rs878855044 GRCh37: 10:72195041-72195041
GRCh38: 10:70435285-70435285
47 NODAL NM_018055.5(NODAL):c.824G>A (p.Arg275His) SNV Likely pathogenic 423103 rs555563029 GRCh37: 10:72195109-72195109
GRCh38: 10:70435353-70435353
48 NODAL NM_018055.5(NODAL):c.891+2T>A SNV Likely pathogenic 571254 rs1564667078 GRCh37: 10:72195040-72195040
GRCh38: 10:70435284-70435284
49 ZIC3 NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter) SNV Likely pathogenic 816872 rs1602743059 GRCh37: X:136649808-136649808
GRCh38: X:137567649-137567649
50 MMP21 NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) SNV Likely pathogenic 976665 GRCh37: 10:127462816-127462816
GRCh38: 10:125774247-125774247

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 ZIC3 NODAL LEFTY2 ACVR2B
2 11.41 ZIC3 NODAL LEFTY2 ACVR2B
3 11.3 NODAL LEFTY2 ACVR2B
4
Show member pathways
10.72 NODAL LEFTY2 GDF1 CFC1 ACVR2B

GO Terms for Visceral Heterotaxy

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.17 NODAL MMP21 LEFTY2 GDF1 DNAI1 DNAH5
2 cytoskeleton GO:0005856 10.06 RSPH9 INVS DNAI2 DNAI1 DNAH9 DNAH5
3 cell projection GO:0042995 10.06 RSPH9 PKD1L1 INVS DNAI2 DNAI1 DNAH9
4 microtubule GO:0005874 9.88 INVS DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
5 motile cilium GO:0031514 9.78 RSPH9 DNAH9 DNAH5 DNAH11
6 axoneme GO:0005930 9.7 RSPH9 DNAI2 DNAH9 DNAH5 DNAH11 CCDC40
7 cilium GO:0005929 9.7 RSPH9 PKD1L1 INVS DNAI2 DNAI1 DNAH9
8 outer dynein arm GO:0036157 9.67 DNAI2 DNAI1 DNAH9 DNAH5
9 dynein complex GO:0030286 9.65 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
10 axonemal dynein complex GO:0005858 9.49 DNAI2 DNAH5
11 9+2 motile cilium GO:0097729 9.1 RSPH9 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.12 ZIC3 NODAL LEFTY2 INVS CFC1 CFAP53
2 heart development GO:0007507 9.97 NODAL DNAI1 DNAH5 DNAH11 CFC1 CCDC39
3 cilium assembly GO:0060271 9.92 RSPH9 DNAI2 DNAH5 CFAP53
4 cell projection organization GO:0030030 9.91 RSPH9 DNAI2 DNAI1 DNAH9
5 anterior/posterior pattern specification GO:0009952 9.88 ZIC3 NODAL CFC1 ACVR2B
6 lung development GO:0030324 9.85 ZIC3 NODAL CCDC40 CCDC39
7 BMP signaling pathway GO:0030509 9.83 NODAL LEFTY2 GDF1 ACVR2B
8 heart looping GO:0001947 9.81 ZIC3 NODAL CCDC40 CCDC39
9 SMAD protein signal transduction GO:0060395 9.79 NODAL LEFTY2 GDF1
10 microtubule-based movement GO:0007018 9.77 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.76 NODAL LEFTY2 GDF1
12 motile cilium assembly GO:0044458 9.73 RSPH9 CCDC40 CCDC39
13 flagellated sperm motility GO:0030317 9.72 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
14 outer dynein arm assembly GO:0036158 9.71 DNAI2 DNAI1 DNAH5
15 regulation of cilium beat frequency GO:0003356 9.65 DNAH11 CCDC40 CCDC39
16 axoneme assembly GO:0035082 9.64 RSPH9 CCDC40
17 axonemal dynein complex assembly GO:0070286 9.63 CCDC40 CCDC39
18 inner dynein arm assembly GO:0036159 9.63 CCDC40 CCDC39
19 determination of liver left/right asymmetry GO:0071910 9.63 ZIC3 CCDC40 CCDC39
20 nodal signaling pathway GO:0038092 9.62 NODAL CFC1
21 determination of digestive tract left/right asymmetry GO:0071907 9.61 ZIC3 CCDC40 CCDC39
22 cilium movement GO:0003341 9.61 RSPH9 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
23 establishment of localization in cell GO:0051649 9.6 DNAH5 CCDC39
24 positive regulation of activin receptor signaling pathway GO:0032927 9.59 NODAL ACVR2B
25 determination of pancreatic left/right asymmetry GO:0035469 9.58 ZIC3 CCDC40 CCDC39
26 determination of left/right asymmetry in nervous system GO:0035545 9.57 ZIC3 DNAH11
27 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.56 DNAH11 CFAP53 CCDC40 CCDC39
28 epithelial cilium movement GO:0003351 9.55 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
29 determination of left/right symmetry GO:0007368 9.32 ZIC3 NODAL MMP21 DNAI2 DNAI1 DNAH5

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.61 NODAL LEFTY2 GDF1
2 dynein intermediate chain binding GO:0045505 9.5 DNAH9 DNAH5 DNAH11
3 dynein light intermediate chain binding GO:0051959 9.43 DNAH9 DNAH5 DNAH11
4 dynein heavy chain binding GO:0045504 9.4 DNAI2 DNAI1
5 dynein light chain binding GO:0045503 9.37 DNAI2 DNAI1
6 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.33 DNAH9 DNAH5 DNAH11
7 microtubule motor activity GO:0003777 9.26 DNAI2 DNAH9 DNAH5 DNAH11
8 motor activity GO:0003774 9.02 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11

Sources for Visceral Heterotaxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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