MCID: VSC013
MIFTS: 52

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 58 15
Heterotaxia 12 74 58 29 6 17
Situs Ambiguus 12 58
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 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 drug Kava has been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and lung, 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 233)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 34.1 ZIC3 NODAL MMP21 CFC1 CFAP53 ACVR2B
2 right atrial isomerism 33.7 ZIC3 NODAL LEFTY2 GDF1 DNAI1 DNAH5
3 ciliary dyskinesia, primary, 9 32.8 RSPH9 DNAI2 DNAAF2
4 dextrocardia 31.7 ZIC3 NODAL LEFTY2 DNAI1 DNAH5 DNAH11
5 dextro-looped transposition of the great arteries 31.4 ZIC3 PKD1L1 NODAL LEFTY2 GDF1 DNAI1
6 heart septal defect 31.4 ZIC3 LEFTY2 CFC1
7 ventricular septal defect 31.4 ZIC3 NODAL GDF1
8 double outlet right ventricle 31.4 ZIC3 NODAL LEFTY2 GDF1 CFC1
9 situs inversus 31.3 RSPH9 PKD1L1 INVS DNAI2 DNAI1 DNAH9
10 atrioventricular septal defect 31.2 ZIC3 NODAL LEFTY2 GDF1 CFC1
11 atrial heart septal defect 31.2 ZIC3 NODAL LEFTY2 CFC1
12 dextrocardia with situs inversus 31.1 PKD1L1 NODAL MMP21 DNAH9 CFAP53
13 tetralogy of fallot 31.1 ZIC3 NODAL LEFTY2 GDF1 CFC1
14 right aortic arch 31.0 CFAP53 ACVR2B
15 hypoplastic left heart syndrome 30.9 ZIC3 NODAL CFC1 CFAP53
16 primary ciliary dyskinesia 30.9 ZIC3 RSPH9 PKD1L1 NODAL MMP21 LEFTY2
17 patent ductus arteriosus 1 30.8 ZIC3 LEFTY2 CFC1
18 bronchiectasis 30.8 RSPH9 DNAI2 DNAI1 DNAH5 DNAH11 DNAAF2
19 ciliary dyskinesia, primary, 1 30.4 RSPH9 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
20 polycystic kidney disease 2 with or without polycystic liver disease 30.3 PKD1L1 LEFTY2 INVS
21 pulmonary valve stenosis 30.3 LEFTY2 CFC1
22 ciliary dyskinesia, primary, 7 30.2 DNAH5 DNAH11
23 ciliary dyskinesia, primary, 3 30.1 DNAH5 DNAH11
24 laterality defects dominant 12.2
25 heterotaxy, visceral, 5, autosomal 12.2
26 cardiac anomalies-heterotaxy syndrome 12.2
27 heterotaxy, visceral, 1, x-linked 12.1
28 heterotaxy, visceral, 2, autosomal 11.6
29 heterotaxy, visceral, 4, autosomal 11.6
30 heterotaxy, visceral, 7, autosomal 11.6
31 heterotaxy, visceral, 8, autosomal 11.6
32 campomelia, cumming type 11.6
33 heterotaxy, visceral, 6, autosomal 11.5
34 atrioventricular septal defect 2 11.5
35 heterotaxy, visceral, 3, autosomal 11.4
36 asplenia, isolated congenital 11.3
37 pancreas, dorsal, agenesis of 11.2
38 ciliary dyskinesia, primary, 39 11.2
39 ciliary dyskinesia, primary, 36, x-linked 11.0
40 ciliary dyskinesia, primary, 25 11.0
41 ciliary dyskinesia, primary, 26 11.0
42 ciliary dyskinesia, primary, 35 11.0
43 ciliary dyskinesia, primary, 2 10.9
44 ciliary dyskinesia, primary, 13 10.9
45 short-rib thoracic dysplasia 7 with or without polydactyly 10.9
46 ciliary dyskinesia, primary, 17 10.9
47 ciliary dyskinesia, primary, 20 10.9
48 ciliary dyskinesia, primary, 23 10.9
49 ciliary dyskinesia, primary, 28 10.9
50 ciliary dyskinesia, primary, 30 10.9

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:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 ACVR2B CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
2 cardiovascular system MP:0005385 10.38 ACVR2B CCDC39 CFAP53 DNAAF2 DNAH11 DNAH5
3 cellular MP:0005384 10.34 ACVR2B CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
4 digestive/alimentary MP:0005381 10.24 CCDC39 DNAAF2 DNAH11 DNAH5 GDF1 INVS
5 embryo MP:0005380 10.22 ACVR2B CCDC40 CFAP53 DNAAF2 DNAH11 GDF1
6 mortality/aging MP:0010768 10.22 ACVR2B CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
7 hematopoietic system MP:0005397 10.17 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 DNAI1
8 immune system MP:0005387 10.14 ACVR2B CCDC39 CFAP53 DNAH11 DNAH5 DNAI1
9 craniofacial MP:0005382 10.11 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 10.03 CCDC39 CCDC40 CFAP53 DNAAF2 DNAH5 DNAI1
12 respiratory system MP:0005388 9.86 ACVR2B CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
13 renal/urinary system MP:0005367 9.76 ACVR2B CCDC39 CCDC40 DNAH11 DNAH5 GDF1
14 skeleton MP:0005390 9.28 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 Heterotaxia 29

Anatomical Context for Visceral Heterotaxy

MalaCards organs/tissues related to Visceral Heterotaxy:

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

Publications for Visceral Heterotaxy

Articles related to Visceral Heterotaxy:

(show top 50) (show all 289)
# 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
Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome. 61
31843215 2019
13
Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy. 61
31037095 2019
14
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. 61
31026592 2019
15
Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome. 61
30585568 2018
16
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
17
Roultella ornithinolytica infection in infancy: a case of febrile urinary tract infection. 61
29721836 2018
18
Congenital portosystemic shunts: diagnosis and treatment. 61
29730740 2018
19
Intrahepatic cholangiocarcinoma after Fontan procedure in an adult with visceral heterotaxy. 61
29559246 2018
20
Animal left-right asymmetry. 61
29614284 2018
21
[Characteristics and prognosis of interrupted inferior vena cava with azygous continuation]. 61
29609227 2018
22
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
23
Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy? 61
29415491 2018
24
Dilated cardiomyopathy complicated with visceral heterotaxy. 61
29040450 2018
25
The Role of Cerl2 in the Establishment of Left-Right Asymmetries during Axis Formation and Heart Development. 61
29367552 2017
26
Vertebrate Left-Right Asymmetry: What Can Nodal Cascade Gene Expression Patterns Tell Us? 61
29367579 2017
27
Protein Losing Enteropathy After Cardiac Transplantation Successfully Treated by Stent Implantation. 61
27549730 2017
28
Cell lineage of timed cohorts of Tbx6-expressing cells in wild-type and Tbx6 mutant embryos. 61
28606934 2017
29
Isolated severe leftward displacement of the septum primum: anatomic and 3D echocardiographic findings and surgical repair. 61
28329229 2017
30
Incidentally detected asplenia in a healthy 64-year-old female live kidney donor. 61
28473921 2017
31
Respiratory syncytial virus hospitalization risk in the second year of life by specific congenital heart disease diagnoses. 61
28253361 2017
32
Mechanism responsible for D-transposition of the great arteries: Is this part of the spectrum of right isomerism? 61
27329052 2016
33
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. 61
25829475 2016
34
Hemiretinal Artery Occlusion in an 11-Year-Old Child with Dextrocardia. 61
28050295 2016
35
A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 61
26429889 2015
36
Hyperglycemia impairs left-right axis formation and thereby disturbs heart morphogenesis in mouse embryos. 61
26351675 2015
37
Heterotaxia with Polysplenia. 61
26051344 2015
38
[An exceptional combination of pulmonary and systemic venous return in a case of heterotaxia syndrome]. 61
24785447 2015
39
The importance of being isomeric. 61
25782978 2015
40
Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009. 61
25711982 2015
41
Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy. 61
26180693 2015
42
Ivemark syndrome-a rare entity with specific anatomical features. 61
26005826 2015
43
The modified Fontan procedure with use of extracardiac conduit in adults: analysis of 32 consecutive patients. 61
25443023 2014
44
Birth prevalence of congenital heart defects in Norway 1994-2009--a nationwide study. 61
25458661 2014
45
Residential agricultural pesticide exposures and risk of selected congenital heart defects among offspring in the San Joaquin Valley of California. 61
25262086 2014
46
Heterotaxia associated with polysplenia. 61
25352385 2014
47
Massive hemorrhage after Kasai portoenterostomy in a patient with a congenital extrahepatic portosystemic shunt, malrotation and a double aortic arch: report of a case. 61
23657644 2014
48
Nature and extent of left/right axis defects in T(Wis) /T(Wis) mutant mouse embryos. 61
24801048 2014
49
Preduodenal portal vein in adult with polysplenia syndrome revisited with a case report. 61
24891779 2014
50
Exercises in anatomy: cardiac isomerism. 61
25547620 2014

Variations for Visceral Heterotaxy

ClinVar genetic disease variations for Visceral Heterotaxy:

6 (show top 50) (show all 254) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF1 NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)SNV Pathogenic 6747 rs121434422 19:18979844-18979844 19:18869035-18869035
2 PKD1L1 NM_138295.4(PKD1L1):c.6473+2_6473+3deldeletion Pathogenic 235796 rs528302390 7:47870812-47870813 7:47831214-47831215
3 GDF1 NM_001492.6(GDF1):c.523_586dup (p.Ala196fs)duplication Pathogenic 665854 19:18979938-18979939 19:18869129-18869130
4 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)SNV Pathogenic/Likely pathogenic 265317 rs145119918 10:127456139-127456139 10:125767570-125767570
5 MMP21 NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)SNV Likely pathogenic 289001 rs137955225 10:127458937-127458937 10:125770368-125770368
6 PKD1L1 NM_138295.4(PKD1L1):c.5072G>C (p.Cys1691Ser)SNV Likely pathogenic 235198 rs886037834 7:47886558-47886558 7:47846960-47846960
7 GDF1 NM_001492.6(GDF1):c.189G>A (p.Trp63Ter)SNV Likely pathogenic 664346 19:18980928-18980928 19:18870119-18870119
8 MNS1 NM_018365.3(MNS1):c.403_406AAAG[1] (p.Glu136fs)short repeat Likely pathogenic 635005 15:56739085-56739088 15:56446887-56446890
9 GDF1 NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)deletion Likely pathogenic 410641 rs768027510 19:18979475-18979478 19:18868666-18868669
10 NODAL NM_018055.5(NODAL):c.824G>A (p.Arg275His)SNV Likely pathogenic 423103 rs555563029 10:72195109-72195109 10:70435353-70435353
11 CCDC103 NM_213607.3(CCDC103):c.558_559AG[7] (p.Ser190fs)short repeat Likely pathogenic 455029 rs746242380 17:42980013-42980014 17:44902645-44902646
12 CERS1 , GDF1 NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)SNV Conflicting interpretations of pathogenicity 522571 rs374016704 19:18979434-18979434 19:18868625-18868625
13 NODAL NM_018055.5(NODAL):c.281G>A (p.Arg94Gln)SNV Conflicting interpretations of pathogenicity 300307 rs146018217 10:72195652-72195652 10:70435896-70435896
14 CERS1 , GDF1 NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)SNV Conflicting interpretations of pathogenicity 220404 rs864622513 19:18979600-18979600 19:18868791-18868791
15 NODAL NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)SNV Conflicting interpretations of pathogenicity 8269 rs121909283 10:72195155-72195155 10:70435399-70435399
16 LEFTY2 NM_003240.5(LEFTY2):c.1073C>T (p.Ala358Val)SNV Conflicting interpretations of pathogenicity 295967 rs151034245 1:226125169-226125169 1:225937469-225937469
17 ACVR2B NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp)SNV Conflicting interpretations of pathogenicity 344918 rs144370188 3:38524728-38524728 3:38483237-38483237
18 ACVR2B NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=)SNV Conflicting interpretations of pathogenicity 344919 rs56280856 3:38524736-38524736 3:38483245-38483245
19 ACVR2B NM_001106.4(ACVR2B):c.*2318C>TSNV Uncertain significance 344960 rs369910327 3:38527141-38527141 3:38485650-38485650
20 ACVR2B NM_001106.4(ACVR2B):c.*2359_*2361deldeletion Uncertain significance 344964 rs59343196 3:38527158-38527160 3:38485667-38485669
21 ACVR2B NM_001106.4(ACVR2B):c.*2361dupduplication Uncertain significance 344962 rs59343196 3:38527157-38527158 3:38485666-38485667
22 ACVR2B NM_001106.4(ACVR2B):c.*2362_*2364deldeletion Uncertain significance 344965 rs886058399 3:38527184-38527186 3:38485693-38485695
23 ACVR2B NM_001106.4(ACVR2B):c.*3078C>TSNV Uncertain significance 344973 rs755897804 3:38527901-38527901 3:38486410-38486410
24 ACVR2B NM_001106.4(ACVR2B):c.*8561A>TSNV Uncertain significance 345033 rs200234620 3:38533384-38533384 3:38491893-38491893
25 ACVR2B NM_001106.4(ACVR2B):c.*8812C>TSNV Uncertain significance 345036 rs569525244 3:38533635-38533635 3:38492144-38492144
26 ACVR2B NM_001106.4(ACVR2B):c.*9038G>ASNV Uncertain significance 345038 rs886058427 3:38533861-38533861 3:38492370-38492370
27 ACVR2B NM_001106.4(ACVR2B):c.*9272C>GSNV Uncertain significance 345042 rs886058430 3:38534095-38534095 3:38492604-38492604
28 ACVR2B NM_001106.4(ACVR2B):c.*9398_*9399insATTAinsertion Uncertain significance 345050 rs1553679325 3:38534221-38534222 3:38492730-38492731
29 ACVR2B NM_001106.4(ACVR2B):c.*9399_*9435delinsATTindel Uncertain significance 345051 rs886058433 3:38534222-38534258 3:38492731-38492767
30 ACVR2B NM_001106.4(ACVR2B):c.*9443_*9469delinsTindel Uncertain significance 345054 rs886058436 3:38534266-38534292 3:38492775-38492801
31 ACVR2B NM_001106.4(ACVR2B):c.*9737C>TSNV Uncertain significance 345059 rs549166852 3:38534560-38534560 3:38493069-38493069
32 ACVR2B NM_001106.4(ACVR2B):c.283G>C (p.Glu95Gln)SNV Uncertain significance 344915 rs886058385 3:38519374-38519374 3:38477883-38477883
33 LEFTY2 NM_003240.5(LEFTY2):c.424C>G (p.Gln142Glu)SNV Uncertain significance 295972 rs886046058 1:226127529-226127529 1:225939829-225939829
34 LEFTY2 NM_003240.5(LEFTY2):c.*279G>ASNV Uncertain significance 295964 rs565668518 1:226124862-226124862 1:225937162-225937162
35 LEFTY2 NM_001172425.2(LEFTY2):c.-222C>ASNV Uncertain significance 295977 rs886046059 1:226129062-226129062 1:225941362-225941362
36 LEFTY2 NM_003240.5(LEFTY2):c.727A>G (p.Arg243Gly)SNV Uncertain significance 295970 rs748117464 1:226127071-226127071 1:225939371-225939371
37 LEFTY2 NM_003240.5(LEFTY2):c.275C>T (p.Ser92Leu)SNV Uncertain significance 295974 rs366439 1:226127678-226127678 1:225939978-225939978
38 LEFTY2 NM_001172425.2(LEFTY2):c.-225C>TSNV Uncertain significance 295978 rs886046060 1:226129065-226129065 1:225941365-225941365
39 ACVR2B NM_001106.4(ACVR2B):c.210C>T (p.Ile70=)SNV Uncertain significance 344913 rs145456109 3:38518935-38518935 3:38477444-38477444
40 ACVR2B NM_001106.4(ACVR2B):c.*1574_*1579deldeletion Uncertain significance 344948 rs886058394 3:38526396-38526401 3:38484905-38484910
41 LEFTY2 NM_003240.5(LEFTY2):c.810T>C (p.Ile270=)SNV Uncertain significance 295969 rs751370455 1:226125432-226125432 1:225937732-225937732
42 LEFTY2 NM_003240.5(LEFTY2):c.*730T>CSNV Uncertain significance 295960 rs747349216 1:226124411-226124411 1:225936711-225936711
43 LEFTY2 NM_003240.5(LEFTY2):c.*571C>GSNV Uncertain significance 295961 rs543240181 1:226124570-226124570 1:225936870-225936870
44 LEFTY2 NM_003240.5(LEFTY2):c.*260C>TSNV Uncertain significance 295965 rs886046057 1:226124881-226124881 1:225937181-225937181
45 LEFTY2 NM_003240.5(LEFTY2):c.371C>G (p.Pro124Arg)SNV Uncertain significance 295973 rs777195213 1:226127582-226127582 1:225939882-225939882
46 ACVR2B NM_001106.4(ACVR2B):c.*4650A>CSNV Uncertain significance 344992 rs886058411 3:38529473-38529473 3:38487982-38487982
47 ACVR2B NM_001106.4(ACVR2B):c.*4890T>CSNV Uncertain significance 344993 rs886058412 3:38529713-38529713 3:38488222-38488222
48 ACVR2B NM_001106.4(ACVR2B):c.*5587T>ASNV Uncertain significance 345003 rs187415200 3:38530410-38530410 3:38488919-38488919
49 ACVR2B NM_001106.4(ACVR2B):c.*6465A>GSNV Uncertain significance 345011 rs886058417 3:38531288-38531288 3:38489797-38489797
50 ACVR2B NM_001106.4(ACVR2B):c.*3895T>GSNV Uncertain significance 344983 rs886058406 3:38528718-38528718 3:38487227-38487227

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 11.4 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 RSPH9 PKD1L1 INVS DNAI2 DNAI1 DNAH9
4 microtubule GO:0005874 9.88 INVS DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
5 dynein complex GO:0030286 9.72 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
6 motile cilium GO:0031514 9.67 RSPH9 DNAH9 DNAH11
7 outer dynein arm GO:0036157 9.54 DNAI2 DNAI1 DNAH5
8 axoneme GO:0005930 9.5 RSPH9 DNAI2 DNAH9 DNAH5 DNAH11 CCDC40
9 axonemal dynein complex GO:0005858 9.48 DNAI2 DNAH5
10 9+2 motile cilium GO:0097729 9.46 RSPH9 DNAH9 DNAH5 DNAH11
11 cilium GO:0005929 9.36 RSPH9 PKD1L1 INVS DNAI2 DNAI1 DNAH9

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.13 ZIC3 NODAL LEFTY2 INVS CFC1 CFAP53
2 cilium assembly GO:0060271 9.97 RSPH9 DNAI2 DNAH5 CFAP53 CCDC40
3 anterior/posterior pattern specification GO:0009952 9.89 ZIC3 NODAL CFC1 ACVR2B
4 lung development GO:0030324 9.89 ZIC3 NODAL CCDC40 CCDC39 ACVR2B
5 heart development GO:0007507 9.87 NODAL DNAI1 DNAH5 DNAH11 CFC1 CCDC39
6 heart looping GO:0001947 9.85 ZIC3 NODAL CCDC40 CCDC39
7 BMP signaling pathway GO:0030509 9.83 NODAL LEFTY2 GDF1 CFC1 ACVR2B
8 regulation of MAPK cascade GO:0043408 9.8 NODAL LEFTY2 GDF1
9 microtubule-based movement GO:0007018 9.8 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
10 SMAD protein signal transduction GO:0060395 9.79 NODAL LEFTY2 GDF1
11 cell development GO:0048468 9.78 NODAL LEFTY2 GDF1
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.77 NODAL LEFTY2 GDF1
13 flagellated sperm motility GO:0030317 9.77 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
14 motile cilium assembly GO:0044458 9.75 RSPH9 CCDC40 CCDC39
15 outer dynein arm assembly GO:0036158 9.73 DNAI2 DNAI1 DNAH5
16 axonemal dynein complex assembly GO:0070286 9.71 DNAAF2 CCDC40 CCDC39
17 determination of liver left/right asymmetry GO:0071910 9.7 ZIC3 CCDC40 CCDC39
18 determination of digestive tract left/right asymmetry GO:0071907 9.69 ZIC3 CCDC40 CCDC39
19 axoneme assembly GO:0035082 9.65 RSPH9 CCDC40
20 gastrulation with mouth forming second GO:0001702 9.65 NODAL ACVR2B
21 determination of pancreatic left/right asymmetry GO:0035469 9.65 ZIC3 CCDC40 CCDC39
22 inner dynein arm assembly GO:0036159 9.64 CCDC40 CCDC39
23 cilium-dependent cell motility GO:0060285 9.64 DNAAF2 CCDC39
24 nodal signaling pathway GO:0038092 9.63 NODAL CFC1
25 determination of heart left/right asymmetry GO:0061371 9.63 MMP21 DNAH11
26 regulation of cilium beat frequency GO:0003356 9.63 DNAH11 CCDC40 CCDC39
27 positive regulation of activin receptor signaling pathway GO:0032927 9.61 NODAL ACVR2B
28 cilium movement GO:0003341 9.61 RSPH9 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
29 determination of left/right asymmetry in nervous system GO:0035545 9.58 ZIC3 DNAH11
30 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.56 DNAH11 CFAP53 CCDC40 CCDC39
31 epithelial cilium movement GO:0003351 9.55 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
32 determination of left/right symmetry GO:0007368 9.36 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 transforming growth factor beta receptor binding GO:0005160 9.54 NODAL LEFTY2 GDF1
2 dynein light intermediate chain binding GO:0051959 9.5 DNAH9 DNAH5 DNAH11
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.46 DNAI2 DNAI1
4 dynein heavy chain binding GO:0045504 9.43 DNAI2 DNAI1
5 dynein intermediate chain binding GO:0045505 9.43 DNAH9 DNAH5 DNAH11
6 dynein light chain binding GO:0045503 9.4 DNAI2 DNAI1
7 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.33 DNAH9 DNAH5 DNAH11
8 microtubule motor activity GO:0003777 9.26 DNAI2 DNAH9 DNAH5 DNAH11
9 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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