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 6 15
Heterotaxia 12 74 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 72 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, visceral, 1, x-linked and heterotaxy, visceral, 5, autosomal. 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 kidney, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 74 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 185)
# Related Disease Score Top Affiliating Genes
1 heterotaxy, visceral, 1, x-linked 33.1 ZIC3 ALAS2
2 heterotaxy, visceral, 5, autosomal 33.1 NODAL DNAH7
3 heterotaxy 33.0 ZIC3 PKD1L1 NODAL MMP21 CFC1 CFAP53
4 right atrial isomerism 32.6 ZIC3 NODAL LEFTY2 DNAI1 DNAH9 DNAH7
5 dextrocardia 31.3 ZIC3 NODAL DNAI1 DNAH5 DNAH11 CFAP53
6 dextro-looped transposition of the great arteries 31.0 ZIC3 PKD1L1 NODAL DNAI1 DNAH5 DNAH11
7 double outlet right ventricle 31.0 ZIC3 NODAL LEFTY2 CFC1 CERS1 ACVR2B
8 situs inversus 31.0 INVS DNAI2 DNAI1 DNAH9 DNAH7 DNAH5
9 heart septal defect 31.0 ZIC3 NODAL CFC1
10 tetralogy of fallot 30.8 ZIC3 NODAL LEFTY2 CFC1 CERS1
11 atrioventricular septal defect 30.7 ZIC3 NODAL LEFTY2 CFC1
12 bronchiectasis 30.7 DNAI2 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
13 dextrocardia with situs inversus 30.6 PKD1L1 NODAL MMP21 DNAH9 CFAP53
14 hypoplastic left heart syndrome 30.6 ZIC3 NODAL CFC1 CFAP53
15 meckel syndrome, type 1 30.6 ZIC3 LEFTY2 INVS DNAI1 DNAH5 DNAH11
16 primary ciliary dyskinesia 30.6 ZIC3 PKD1L1 NODAL MMP21 LEFTY2 INVS
17 heart disease 30.5 ZIC3 NODAL DNAI1 DNAH5 DNAH11 CFC1
18 patent ductus arteriosus 1 30.5 ZIC3 NODAL LEFTY2 CFC1
19 atrial heart septal defect 30.5 ZIC3 NODAL CFC1
20 pulmonary valve stenosis 30.5 ZIC3 LEFTY2 CFC1
21 right aortic arch 30.4 CFAP53 ACVR2B
22 heterotaxy, visceral, 7, autosomal 11.4
23 heterotaxy, visceral, 8, autosomal 11.4
24 heterotaxy, visceral, 9, autosomal, with male infertility 11.4
25 heterotaxy, visceral, 2, autosomal 11.3
26 heterotaxy, visceral, 4, autosomal 11.3
27 atrioventricular septal defect 2 11.3
28 heterotaxy, visceral, 6, autosomal 11.2
29 heterotaxy, visceral, 3, autosomal 11.1
30 cardiac anomalies-heterotaxy syndrome 11.0
31 campomelia, cumming type 11.0
32 pancreas, dorsal, agenesis of 11.0
33 kartagener syndrome 10.6 ZIC3 PKD1L1 LEFTY2 INVS DNAI2 DNAI1
34 total anomalous pulmonary venous return 1 10.6 ZIC3 NODAL MMP21 CFC1
35 ciliary dyskinesia, primary, 8 10.6 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
36 ciliary dyskinesia, primary, 1 10.6 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
37 ciliary dyskinesia, primary, 2 10.6 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
38 ciliary dyskinesia, primary, 4 10.6 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
39 osteogenesis imperfecta, type xiv 10.6 DNAH9 DNAH5 CFAP53
40 middle ear disease 10.6 DNAI2 DNAI1 DNAH5 DNAH11 CCDC40
41 paranasal sinus disease 10.5 DNAI2 DNAI1 DNAH5 DNAH11 CCDC40
42 joubert syndrome 1 10.5 PKD1L1 LEFTY2 INVS DNAI1 DNAH9 DNAH5
43 pulmonary valve disease 10.5 ZIC3 LEFTY2 CFC1
44 isolated congenitally uncorrected transposition of the great arteries 10.5 ZIC3 CFC1
45 polycystic kidney disease 2 with or without polycystic liver disease 10.5 PKD1L1 LEFTY2 INVS
46 male infertility 10.5 DNAI1 DNAH9 DNAH5 DNAH11 CCDC40
47 holt-oram syndrome 10.5 ZIC3 LEFTY2 CFC1
48 physical disorder 10.4 ZIC3 INVS DNAH5
49 hypogonadotropic hypogonadism 5 with or without anosmia 10.2 NODAL CERS1
50 pulmonary vein stenosis 10.2

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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH11
2 cardiovascular system MP:0005385 10.29 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 DNAI1
3 cellular MP:0005384 10.27 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH11
4 hematopoietic system MP:0005397 10.15 ACVR2B ALAS2 CCDC39 CERS1 CFAP53 DNAH11
5 embryo MP:0005380 10.13 ACVR2B ALAS2 CCDC40 CFAP53 DNAH11 INVS
6 mortality/aging MP:0010768 10.13 ACVR2B ALAS2 CCDC39 CCDC40 CERS1 CFAP53
7 digestive/alimentary MP:0005381 10.11 CCDC39 DNAH11 DNAH5 INVS LEFTY2 MMP21
8 craniofacial MP:0005382 10.02 CCDC39 DNAH11 DNAH5 DNAI1 MMP21 NODAL
9 liver/biliary system MP:0005370 10.02 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 INVS
10 nervous system MP:0003631 9.93 ACVR2B CCDC39 CCDC40 CERS1 CFAP53 DNAH5
11 renal/urinary system MP:0005367 9.5 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 INVS
12 respiratory system MP:0005388 9.47 ACVR2B CCDC39 CCDC40 CFAP53 DNAH11 DNAH5

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 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
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, Kidney, Pancreas, Breast, Uterus

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show top 50) (show all 291)
# Title Authors PMID Year
1
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
2
A human laterality disorder associated with recessive CCDC11 mutation. 6
22577226 2012
3
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 6
19064609 2009
4
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 6
18716025 2008
5
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
6
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. 6
14681828 2004
7
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 6
11799476 2002
8
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 6
11062482 2000
9
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. 6
9916847 1999
10
X-linked situs abnormalities result from mutations in ZIC3. 6
9354794 1997
11
X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. 6
3674105 1987
12
Variants in RABL2A causing male infertility and ciliopathy. 61
33075816 2020
13
Laparoscopic and left thoracoscopic Ivor-Lewis esophagectomy for Siewert type II esophagogastric junction cancer with right aortic arch: a case report. 61
33206231 2020
14
Fatal pneumococcal septicemia in a girl with visceral heterotaxy and polysplenia: a case report. 61
32405984 2020
15
Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome. 61
31843215 2020
16
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. 61
31026592 2020
17
Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy. 61
31037095 2019
18
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
19
Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome. 61
30585568 2018
20
Roultella ornithinolytica infection in infancy: a case of febrile urinary tract infection. 61
29721836 2018
21
Congenital portosystemic shunts: diagnosis and treatment. 61
29730740 2018
22
Intrahepatic cholangiocarcinoma after Fontan procedure in an adult with visceral heterotaxy. 61
29559246 2018
23
Animal left-right asymmetry. 61
29614284 2018
24
[Characteristics and prognosis of interrupted inferior vena cava with azygous continuation]. 61
29609227 2018
25
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
26
Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy? 61
29415491 2018
27
Dilated cardiomyopathy complicated with visceral heterotaxy. 61
29040450 2018
28
The Role of Cerl2 in the Establishment of Left-Right Asymmetries during Axis Formation and Heart Development. 61
29367552 2017
29
Vertebrate Left-Right Asymmetry: What Can Nodal Cascade Gene Expression Patterns Tell Us? 61
29367579 2017
30
Protein Losing Enteropathy After Cardiac Transplantation Successfully Treated by Stent Implantation. 61
27549730 2017
31
Cell lineage of timed cohorts of Tbx6-expressing cells in wild-type and Tbx6 mutant embryos. 61
28606934 2017
32
Isolated severe leftward displacement of the septum primum: anatomic and 3D echocardiographic findings and surgical repair. 61
28329229 2017
33
Incidentally detected asplenia in a healthy 64-year-old female live kidney donor. 61
28473921 2017
34
Respiratory syncytial virus hospitalization risk in the second year of life by specific congenital heart disease diagnoses. 61
28253361 2017
35
Mechanism responsible for D-transposition of the great arteries: Is this part of the spectrum of right isomerism? 61
27329052 2016
36
Hemiretinal Artery Occlusion in an 11-Year-Old Child with Dextrocardia. 61
28050295 2016
37
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. 61
25829475 2016
38
A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 61
26429889 2015
39
Heterotaxia with Polysplenia. 61
26051344 2015
40
Hyperglycemia impairs left-right axis formation and thereby disturbs heart morphogenesis in mouse embryos. 61
26351675 2015
41
[An exceptional combination of pulmonary and systemic venous return in a case of heterotaxia syndrome]. 61
24785447 2015
42
The importance of being isomeric. 61
25782978 2015
43
Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009. 61
25711982 2015
44
Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy. 61
26180693 2015
45
Ivemark syndrome-a rare entity with specific anatomical features. 61
26005826 2015
46
Birth prevalence of congenital heart defects in Norway 1994-2009--a nationwide study. 61
25458661 2014
47
The modified Fontan procedure with use of extracardiac conduit in adults: analysis of 32 consecutive patients. 61
25443023 2014
48
Residential agricultural pesticide exposures and risk of selected congenital heart defects among offspring in the San Joaquin Valley of California. 61
25262086 2014
49
Heterotaxia associated with polysplenia. 61
25352385 2014
50
Nature and extent of left/right axis defects in T(Wis) /T(Wis) mutant mouse embryos. 61
24801048 2014

Variations for Visceral Heterotaxy

ClinVar genetic disease variations for Visceral Heterotaxy:

6 (show top 50) (show all 473)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXP1 NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser) SNV association 55847 rs147674680 3:71019907-71019907 3:70970756-70970756
2 CFAP53 NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter) SNV Pathogenic 208550 rs375801610 18:47788538-47788538 18:50262168-50262168
3 ZIC3 NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del Deletion Pathogenic 216089
4 ACVR2B NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) SNV Pathogenic 6859 rs121434438 3:38524764-38524764 3:38483273-38483273
5 ZIC3 NM_003413.4(ZIC3):c.968C>T (p.Thr323Met) SNV Pathogenic 11433 rs122462165 X:136649818-136649818 X:137567659-137567659
6 ZIC3 NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter) SNV Pathogenic 11434 rs122462166 X:136649654-136649654 X:137567495-137567495
7 ZIC3 NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) SNV Pathogenic 11436 rs104894960 X:136649595-136649595 X:137567436-137567436
8 ZIC3 NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser) SNV Pathogenic 11437 rs104894961 X:136649608-136649608 X:137567449-137567449
9 ZIC3 NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) SNV Pathogenic 11438 rs104894962 X:136651213-136651213 X:137569054-137569054
10 ZIC3 ZIC3, 2-BP INS, 1507TT Insertion Pathogenic 11440
11 ZIC3 NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly) SNV Pathogenic 11441 rs122463168 X:136649613-136649613 X:137567454-137567454
12 CFAP53 CCDC11, IVS6DS, G-A, +1 SNV Pathogenic 37014
13 CFC1 NM_001270420.1(CFC1):c.248-293C>T SNV Pathogenic 5187 rs104893611 2:131355469-131355469 2:130597896-130597896
14 CFC1 NM_032545.3(CFC1):c.522del (p.Ala175fs) Deletion Pathogenic 5188 rs746231039 2:131350600-131350600 2:130593027-130593027
15 NODAL NODAL, 9-BP INS/24-BP DEL, NT700 Indel Pathogenic 8270
16 NODAL NM_018055.5(NODAL):c.446del (p.Gly149fs) Deletion Pathogenic 663619 rs1589152470 10:72195487-72195487 10:70435731-70435731
17 NODAL NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) SNV Pathogenic 986360 10:72195342-72195342 10:70435586-70435586
18 CERS1 NM_001492.6(GDF1):c.523_586dup (p.Ala196fs) Duplication Pathogenic 665854 rs1601143502 19:18979938-18979939 19:18869129-18869130
19 CERS1 NM_001492.6(GDF1):c.289del (p.Val97fs) Deletion Pathogenic 850258 19:18980828-18980828 19:18870019-18870019
20 ZIC3 NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs) Deletion Pathogenic 464967 rs1556029841 X:136649325-136649328 X:137567166-137567169
21 ZIC3 NM_003413.4(ZIC3):c.535dup (p.Val179fs) Duplication Pathogenic 570392 rs1569345723 X:136649384-136649385 X:137567225-137567226
22 DNAH7 NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) SNV Pathogenic 599649 rs770861172 2:196722306-196722306 2:195857582-195857582
23 DNAH7 NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) SNV Pathogenic 599650 rs114621989 2:196602773-196602773 2:195738049-195738049
24 ZIC3 NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) SNV Pathogenic 545552 rs1203069392 X:136649605-136649605 X:137567446-137567446
25 ZIC3 NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) SNV Pathogenic 545553 rs122463167 X:136649607-136649607 X:137567448-137567448
26 ZIC3 NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) SNV Pathogenic 545554 rs1569345504 X:136648978-136648978 X:137566819-137566819
27 ZIC3 NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) Deletion Pathogenic 545555 rs1569345742 X:136649441-136649457 X:137567282-137567298
28 ZIC3 NM_003413.4(ZIC3):c.571del (p.Glu191fs) Deletion Pathogenic 645837 rs1602742808 X:136649418-136649418 X:137567259-137567259
29 ZIC3 NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter) SNV Pathogenic 853140 X:136648978-136648978 X:137566819-137566819
30 ZIC3 NM_003413.4(ZIC3):c.508_514del (p.Ala170fs) Deletion Pathogenic 951637 X:136649354-136649360 X:137567195-137567201
31 PKD1L1 NM_138295.5(PKD1L1):c.160+1G>A SNV Pathogenic 873155 rs753911740 7:47982992-47982992 7:47943395-47943395
32 CFC1 NM_032545.3(CFC1):c.361_362+18dup Duplication Pathogenic 5190 rs863223280 2:131355422-131355423 2:130597849-130597850
33 NODAL NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) SNV Pathogenic 8268 rs104894169 10:72195385-72195385 10:70435629-70435629
34 MMP21 NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) SNV Pathogenic 545547 rs145789868 10:127462454-127462454 10:125773885-125773885
35 ALAS2 NC_000023.10:g.36649710_136649711del100000002insG Indel Pathogenic 545551 X:36649710-136649711
36 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) SNV Pathogenic 265317 rs145119918 10:127456139-127456139 10:125767570-125767570
37 MMP21 NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) SNV Likely pathogenic 976665 10:127462816-127462816 10:125774247-125774247
38 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) SNV Likely pathogenic 265317 rs145119918 10:127456139-127456139 10:125767570-125767570
39 MMP21 NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) SNV Likely pathogenic 545548 rs1312300020 10:127462540-127462540 10:125773971-125773971
40 MMP21 NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) SNV Likely pathogenic 289001 rs137955225 10:127458937-127458937 10:125770368-125770368
41 ZIC3 NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter) SNV Likely pathogenic 816872 rs1602743059 X:136649808-136649808 X:137567649-137567649
42 CERS1 NM_001492.6(GDF1):c.189G>A (p.Trp63Ter) SNV Likely pathogenic 664346 rs1487660277 19:18980928-18980928 19:18870119-18870119
43 CERS1 NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) Deletion Likely pathogenic 410641 rs768027510 19:18979475-18979478 19:18868666-18868669
44 NODAL NM_018055.5(NODAL):c.891+2T>A SNV Likely pathogenic 571254 rs1564667078 10:72195040-72195040 10:70435284-70435284
45 NODAL NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) SNV Likely pathogenic 8269 rs121909283 10:72195155-72195155 10:70435399-70435399
46 NODAL NM_018055.5(NODAL):c.824G>A (p.Arg275His) SNV Likely pathogenic 423103 rs555563029 10:72195109-72195109 10:70435353-70435353
47 NODAL NM_018055.5(NODAL):c.891+1G>A SNV Likely pathogenic 241245 rs878855044 10:72195041-72195041 10:70435285-70435285
48 NODAL NM_018055.5(NODAL):c.700_707del (p.Arg234fs) Deletion Likely pathogenic 545543 rs1564667180 10:72195226-72195233 10:70435470-70435477
49 NODAL NM_018055.5(NODAL):c.194-1G>T SNV Likely pathogenic 545544 rs1564667617 10:72195740-72195740 10:70435984-70435984
50 ZIC3 NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) SNV Likely pathogenic 279591 rs886041111 X:136649614-136649614 X:137567455-137567455

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
10.62 NODAL LEFTY2 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 10.18 NODAL MMP21 LEFTY2 DNAI1 DNAH5 DNAH11
2 cytoskeleton GO:0005856 10.06 INVS DNAI2 DNAI1 DNAH9 DNAH7 DNAH5
3 cell projection GO:0042995 10 PKD1L1 INVS DNAI2 DNAI1 DNAH9 DNAH7
4 microtubule GO:0005874 9.95 INVS DNAI2 DNAI1 DNAH9 DNAH7 DNAH5
5 axoneme GO:0005930 9.8 DNAI2 DNAH9 DNAH5 DNAH11 CCDC40 CCDC39
6 motile cilium GO:0031514 9.67 DNAH9 DNAH5 DNAH11
7 outer dynein arm GO:0036157 9.67 DNAI2 DNAI1 DNAH9 DNAH5
8 axonemal dynein complex GO:0005858 9.61 DNAI2 DNAH7 DNAH5
9 9+2 motile cilium GO:0097729 9.55 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
10 dynein complex GO:0030286 9.43 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
11 cilium GO:0005929 9.36 PKD1L1 INVS DNAI2 DNAI1 DNAH9 DNAH7

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.09 ZIC3 NODAL LEFTY2 INVS CFC1 CFAP53
2 heart development GO:0007507 9.97 NODAL DNAI1 DNAH5 DNAH11 CFC1 CCDC39
3 anterior/posterior pattern specification GO:0009952 9.87 ZIC3 NODAL CFC1 ACVR2B
4 lung development GO:0030324 9.85 ZIC3 NODAL CCDC40 CCDC39
5 heart looping GO:0001947 9.81 ZIC3 NODAL CCDC40 CCDC39
6 BMP signaling pathway GO:0030509 9.77 NODAL LEFTY2 ACVR2B
7 flagellated sperm motility GO:0030317 9.77 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
8 microtubule-based movement GO:0007018 9.73 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
9 outer dynein arm assembly GO:0036158 9.71 DNAI2 DNAI1 DNAH5
10 inner dynein arm assembly GO:0036159 9.7 DNAH7 CCDC40 CCDC39
11 regulation of cilium beat frequency GO:0003356 9.65 DNAH11 CCDC40 CCDC39
12 determination of liver left/right asymmetry GO:0071910 9.63 ZIC3 CCDC40 CCDC39
13 motile cilium assembly GO:0044458 9.62 CCDC40 CCDC39
14 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.62 DNAH11 CFAP53 CCDC40 CCDC39
15 axonemal dynein complex assembly GO:0070286 9.61 CCDC40 CCDC39
16 cilium-dependent cell motility GO:0060285 9.61 DNAH7 CCDC39
17 determination of digestive tract left/right asymmetry GO:0071907 9.61 ZIC3 CCDC40 CCDC39
18 cilium movement GO:0003341 9.61 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
19 nodal signaling pathway GO:0038092 9.59 NODAL CFC1
20 establishment of localization in cell GO:0051649 9.58 DNAH5 CCDC39
21 positive regulation of activin receptor signaling pathway GO:0032927 9.58 NODAL ACVR2B
22 determination of pancreatic left/right asymmetry GO:0035469 9.58 ZIC3 CCDC40 CCDC39
23 determination of left/right asymmetry in nervous system GO:0035545 9.56 ZIC3 DNAH11
24 epithelial cilium movement GO:0003351 9.55 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
25 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 dynein intermediate chain binding GO:0045505 9.62 DNAH9 DNAH7 DNAH5 DNAH11
2 dynein light intermediate chain binding GO:0051959 9.56 DNAH9 DNAH7 DNAH5 DNAH11
3 microtubule motor activity GO:0003777 9.55 DNAI2 DNAH9 DNAH7 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 9.26 DNAH9 DNAH7 DNAH5 DNAH11
7 motor activity GO:0003774 9.1 DNAI2 DNAI1 DNAH9 DNAH7 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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