TAPVR1
MCID: TTL012
MIFTS: 57

Total Anomalous Pulmonary Venous Return 1 (TAPVR1)

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

Aliases & Classifications for Total Anomalous Pulmonary Venous Return 1

MalaCards integrated aliases for Total Anomalous Pulmonary Venous Return 1:

Name: Total Anomalous Pulmonary Venous Return 1 56
Scimitar Syndrome 56 12 74 58 43 15 17
Total Anomalous Pulmonary Venous Return 56 12 73 13
Congenital Total Pulmonary Venous Return Anomaly 58 6
Anomalous Pulmonary Venous Return 56 6
Hypogenetic Lung Syndrome 12 58
Halasz Syndrome 12 58
Pulmonary Venous Return, Total Anomalous, Type 1 39
Epibronchial Right Pulmonary Vein Syndrome 58
Pulmonary Venous Return, Total Anomalous 39
Anomalous Pulmonary Venous Return; Apvr 56
Congenital Pulmonary Venolobar Syndrome 58
Vena Cava Bronchovascular Syndrome 12
Congenital Venolobar Syndrome 12
Pulmonary Venolobar Syndrome 12
Mirror-Image Lung Syndrome 12
Scimitar Anomaly 56
Tapvr1 56
Tapvr 73
Apvr 56

Characteristics:

Orphanet epidemiological data:

58
scimitar syndrome
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;
congenital total pulmonary venous return anomaly
Prevalence: 1-9/100000 (United States),1-9/100000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
total anomalous pulmonary venous return 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Total Anomalous Pulmonary Venous Return 1

UniProtKB/Swiss-Prot : 73 Total anomalous pulmonary venous return: Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births.

MalaCards based summary : Total Anomalous Pulmonary Venous Return 1, also known as scimitar syndrome, is related to sinoatrial node disease and heterotaxy. An important gene associated with Total Anomalous Pulmonary Venous Return 1 is TAPVR1 (Total Anomalous Pulmonary Venous Return 1), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Remifentanil and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and liver, and related phenotypes are respiratory distress and fatigue

Disease Ontology : 12 A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.

OMIM : 56 Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994). (106700)

Wikipedia : 74 Scimitar syndrome, or congenital pulmonary venolobar syndrome, is a rare congenital heart defect... more...

Related Diseases for Total Anomalous Pulmonary Venous Return 1

Diseases related to Total Anomalous Pulmonary Venous Return 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 176)
# Related Disease Score Top Affiliating Genes
1 sinoatrial node disease 30.4 TBX5 NKX2-5
2 heterotaxy 30.3 ZIC3 NODAL CFC1
3 pulmonic stenosis 30.1 ZIC3 GATA4
4 ventricular septal defect 29.9 ZIC3 TBX5 NODAL NKX2-5 GATA4
5 diaphragmatic hernia, congenital 29.8 TBX5 MYRF GATA4
6 heart septal defect 29.6 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
7 patent foramen ovale 29.5 ZIC3 TBX5 PVR NKX2-5 GATA4 CRELD1
8 patent ductus arteriosus 1 29.2 ZIC3 TBX5 NKX2-5 GATA4 CRELD1 CFC1
9 atrial heart septal defect 29.1 ZIC3 TBX5 PVR NODAL NKX2-5 GATA4
10 atrioventricular septal defect 28.2 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
11 right atrial isomerism 28.1 ZIC3 TBX5 NODAL NKX2-5 CFC1 CERS1
12 double outlet right ventricle 28.1 ZIC3 TBX5 NODAL NKX2-5 GATA4 CFC1
13 dextro-looped transposition of the great arteries 28.1 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
14 tetralogy of fallot 28.1 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
15 hypoplastic left heart syndrome 27.8 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
16 heart disease 27.7 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
17 congenital heart defects, multiple types, 6 11.7
18 cardiac-urogenital syndrome 11.7
19 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 11.7
20 lung agenesis, congenital heart defects, and thumb anomalies syndrome 11.6
21 structural heart defects and renal anomalies syndrome 11.6
22 manouvrier syndrome 11.6
23 meacham winn culler syndrome 11.6
24 pulmonary venous return anomaly 11.3
25 pulmonary hypertension 10.8
26 cor triatriatum 10.7
27 cyanosis, transient neonatal 10.6
28 mitral valve stenosis 10.6
29 pulmonary vein stenosis 10.5
30 cardiac arrest 10.4
31 gonadal dysgenesis 10.4
32 turner syndrome 10.4
33 cor triatriatum sinister 10.4
34 single ventricular heart 10.4
35 pulmonary hypertension, primary, 1 10.3
36 congestive heart failure 10.3
37 dextrocardia 10.3
38 pulmonary artery hypoplasia 10.3
39 coarctation of aorta 10.3
40 varicose veins 10.3
41 respiratory failure 10.3
42 pulmonary edema 10.3
43 47,xyy 10.3
44 interatrial communication 10.3
45 heart, malformation of 10.3 TBX5 NKX2-5
46 hypoplastic right heart syndrome 10.2 TBX5 NKX2-5
47 laryngeal cleft 10.2
48 progressive familial heart block, type ia 10.2
49 papillomatosis, confluent and reticulated 10.2
50 thrombophilia due to thrombin defect 10.2

Graphical network of the top 20 diseases related to Total Anomalous Pulmonary Venous Return 1:



Diseases related to Total Anomalous Pulmonary Venous Return 1

Symptoms & Phenotypes for Total Anomalous Pulmonary Venous Return 1

Human phenotypes related to Total Anomalous Pulmonary Venous Return 1:

58 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0002098
2 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
3 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
4 pulmonary arterial hypertension 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002092
5 atrial septal defect 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001631
6 coarctation of aorta 58 31 frequent (33%) Very rare (<4-1%),Frequent (79-30%) HP:0001680
7 ventricular septal defect 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001629
8 dextrocardia 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001651
9 tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001649
10 pulmonary hypoplasia 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002089
11 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
12 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
13 pulmonary artery hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0004971
14 paroxysmal dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0012763
15 atrial situs ambiguous 58 31 frequent (33%) Frequent (79-30%) HP:0011539
16 supracardiac total anomalous pulmonary venous connection 58 31 frequent (33%) Frequent (79-30%) HP:0011719
17 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
18 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002205
19 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
20 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
21 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
22 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004383
23 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
24 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
25 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
26 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
27 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
28 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
29 mitral atresia 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0011560
30 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
31 bronchogenic cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100730
32 pulmonary sequestration 58 31 occasional (7.5%) Occasional (29-5%) HP:0100632
33 apneic episodes in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0005949
34 left-to-right shunt 58 31 occasional (7.5%) Occasional (29-5%) HP:0012382
35 low-output congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0009805
36 right ventricular failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001708
37 heterotaxy 58 31 occasional (7.5%) Occasional (29-5%) HP:0030853
38 increased anterioposterior diameter of thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0005253
39 low 1-minute apgar score 58 31 occasional (7.5%) Occasional (29-5%) HP:0030918
40 double outlet right ventricle 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001719
41 partial anomalous pulmonary venous return 58 31 occasional (7.5%) Occasional (29-5%) HP:0010773
42 single ventricle 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001750
43 cardiac total anomalous pulmonary venous connection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011720
44 infracardiac total anomalous pulmonary venous connection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011721
45 mixed total anomalous pulmonary venous connection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011722
46 low 5-minute apgar score 58 31 occasional (7.5%) Occasional (29-5%) HP:0030919
47 descending aorta hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0025495
48 hypoplasia of the diaphragm 58 31 occasional (7.5%) Occasional (29-5%) HP:0040044
49 tapered distal phalanges of finger 31 occasional (7.5%) HP:0009884
50 abnormal hemidiaphragm morphology 31 occasional (7.5%) HP:0040045

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
cardiac dextroposition

Respiratory Lung:
hypoplastic right lung
frequent respiratory infections

Cardiovascular Vascular:
scimitar appearance of anomalous right lower pulmonary vein pulmonary hypertension

Clinical features from OMIM:

106700

MGI Mouse Phenotypes related to Total Anomalous Pulmonary Venous Return 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ACADM ANKRD1 ANKRD2 ANKRD23 CRELD1 GATA4
2 muscle MP:0005369 9.23 ACADM ANKRD1 ANKRD2 ANKRD23 GATA4 NKX2-5

Drugs & Therapeutics for Total Anomalous Pulmonary Venous Return 1

Drugs for Total Anomalous Pulmonary Venous Return 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4 Narcotics Phase 4
5 Neuromuscular Blocking Agents Phase 4
6 Anesthetics, General Phase 4
7 Platelet Aggregation Inhibitors Phase 4
8 Anesthetics Phase 4
9 Analgesics Phase 4
10 Analgesics, Opioid Phase 4
11 Anesthetics, Inhalation Phase 4
12
Heparin Approved, Investigational 9005-49-6 46507594 772
13
Aspirin Approved, Vet_approved 50-78-2 2244
14 Fibrinolytic Agents
15 Pharmaceutical Solutions
16 Anticoagulants
17 Coagulants
18 calcium heparin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Deep Neuromuscular Block Versus Inhalation and Total Intravenous Anesthesia (TIVA) on Laparoscopic Surgical Workspace Defined as Insufflated Pneumoperitoneum Volume. Completed NCT01930747 Phase 4 rocuronium;Sevoflurane;remifentanyl
2 Comparison of Fibrinogen Concentrate and Cryoprecipitate in Pediatric Cardiac Surgery Patients Not yet recruiting NCT04376762 Phase 4 Fibrinogen;Cryoprecipitate
3 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
4 Sutureless Technique and Conventional Repairs for Total Anomalous Pulmonary Venous Connection: an Observational Study by Chinese Heart Centers Recruiting NCT04234711
5 Anticoagulation Medicine in Surgical Repair for Total Anomalous Pulmonary Venous Connection: a Randomize Multi-centers Study Recruiting NCT04241380 Anticoagulant Solutions;Anticoagulant management
6 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689
7 Proposal for Retrospective Review of Descending Aortic Flow Reversal in Total Anomalous Pulmonary Venous Connection Terminated NCT00486070

Search NIH Clinical Center for Total Anomalous Pulmonary Venous Return 1

Cochrane evidence based reviews: scimitar syndrome

Genetic Tests for Total Anomalous Pulmonary Venous Return 1

Anatomical Context for Total Anomalous Pulmonary Venous Return 1

MalaCards organs/tissues related to Total Anomalous Pulmonary Venous Return 1:

40
Lung, Heart, Liver, Fetal Lung, Spinal Cord

Publications for Total Anomalous Pulmonary Venous Return 1

Articles related to Total Anomalous Pulmonary Venous Return 1:

(show top 50) (show all 613)
# Title Authors PMID Year
1
The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage "scimitar syndrome". 56 61
14426379 1960
2
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. 56
20071345 2010
3
Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12. 56
17036341 2006
4
A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. 56
7847375 1995
5
Familial total anomalous pulmonary venous return: a large Utah-Idaho family. 56
7747759 1994
6
Father and two children with total anomalous pulmonary venous connection. 56
1887837 1991
7
Total anomalous pulmonary venous connection in siblings. Report on three families. 56
3564987 1987
8
Familial total anomalous pulmonary venous return. 56
5097138 1971
9
Familial aspects of congenital heart disease. 56
13878593 1962
10
Adults forms of scimitar syndrome. 61
32445203 2020
11
Scimitar syndrome with an anomalous artery from the coeliac artery. 61
32285087 2020
12
Late esophageal perforation due to an Amplatzer device in scimitar syndrome. 61
31053378 2020
13
[Scimitar syndrome in adulthood]. 61
32276865 2020
14
Meandering pulmonary veins: Two case reports. 61
32312001 2020
15
A Very Rare Combination: two Scimitar Veins and a Myocardial Bridge. 61
32369305 2020
16
Early Outcomes for In-situ Pericardial Roll Repair for Distant Anomalous Pulmonary Venous Return. 61
32339505 2020
17
Structural and perfusion magnetic resonance imaging of congenital lung malformations. 61
32303778 2020
18
Scimitar Syndrome. 61
32402069 2020
19
Early prenatal diagnosis of Scimitar syndrome. 61
32196799 2020
20
It is not asthma! An arcane case of 'Scimitar' syndrome: A case report. 61
32281607 2020
21
Scimitar Syndrome: An Incidental Finding. 61
31707549 2020
22
[Different surgical approaches to Scimitar syndrome]. 61
31974320 2020
23
Minimally invasive thoracoscopic surgery for scimitar syndrome variant. 61
31324128 2020
24
Variant scimitar syndrome with intralobar pulmonary sequestration containing adenocarcinoma. 61
30830591 2020
25
The Hypogenetic Lung (Scimitar) Syndrome. 61
31660808 2019
26
[Clinical analysis of scimitar syndrome in 6 pediatric patients]. 61
31530357 2019
27
[Percutaneous palliation in a child with scimitar syndrome]. 61
31416712 2019
28
Horseshoe lung associated with scimitar syndrome. 61
31420418 2019
29
Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia. 61
31455287 2019
30
Developmental lung anomalies in adults: A pictorial review. 61
31326738 2019
31
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. 61
31069960 2019
32
Scimitar sign in the absence of anomalous pulmonary venous drainage: a case report. 61
31449598 2019
33
Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins. 61
31082945 2019
34
Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins. 61
31082974 2019
35
Scimitar syndrome: A rare case of recurrent pneumonia. 61
30890840 2019
36
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 61
30590510 2019
37
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 61
29800132 2019
38
Repair of Scimitar syndrome using an extracardiac conduit in pediatric patients: Report of two patients. 61
30745770 2019
39
Novel Technique of Surgical Management of Scimitar Syndrome. 61
31198608 2019
40
An unusual variant of scimitar syndrome predisposing to recurrent pneumonia. 61
30775240 2019
41
Unusual Course of Scimitar Syndrome Preceded by Lung Hypoplasia. 61
31929932 2019
42
Anesthetic considerations for cesarean section in a parturient complicated by Scimitar syndrome-like pathophysiology. 61
32026982 2018
43
Positional Oxygenation Changes in an Adult Patient With Scimitar Syndrome: A Case Report. 61
29894351 2018
44
Multimodality imaging of scimitar syndrome in adults: A report of four cases. 61
30136740 2018
45
Meandering pulmonary veins mimicking scimitar syndrome. 61
29991371 2018
46
Scimitar Syndrome with Partial Left Pulmonary Artery Sling in a Neonate. 61
30271095 2018
47
Pericardial tunnel technique in the surgical management of the vertical form of scimitar syndrome. 61
29608668 2018
48
The pericardial tunnel technique might produce optimal morphological repair of the scimitar syndrome. 61
29788282 2018
49
Anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. 61
29550261 2018
50
A rare case of horseshoe lung with scimitar syndrome and persistent left superior vena cava. 61
29970781 2018

Variations for Total Anomalous Pulmonary Venous Return 1

ClinVar genetic disease variations for Total Anomalous Pulmonary Venous Return 1:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKRD1 NM_014391.2(ANKRD1):c.346-15_346-14deldeletion Conflicting interpretations of pathogenicity 201656 rs794728971 10:92678743-92678744 10:90918986-90918987
2 ANKRD1 NM_014391.2(ANKRD1):c.346-29_346-12deldeletion Conflicting interpretations of pathogenicity 301605 rs72003210 10:92678741-92678758 10:90918984-90919001
3 ANKRD1 NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)SNV Conflicting interpretations of pathogenicity 45639 rs35550482 10:92675322-92675322 10:90915565-90915565
4 ANKRD1 NM_014391.3(ANKRD1):c.652-10A>TSNV Conflicting interpretations of pathogenicity 45636 rs397517252 10:92675647-92675647 10:90915890-90915890
5 ANKRD1 NM_014391.2(ANKRD1):c.346-17_346-10delshort repeat Conflicting interpretations of pathogenicity 45631 rs397517250 10:92678739-92678746 10:90918982-90918989
6 ANKRD1 NM_014391.2(ANKRD1):c.710A>G (p.His237Arg)SNV Uncertain significance 518231 rs145326465 10:92675579-92675579 10:90915822-90915822
7 SMAD2 SNV Uncertain significance 545558 18:45422938-45422938
8 ANKRD1 NM_014391.2(ANKRD1):c.346-16_346-15insATAinsertion Likely benign 522240 rs60923931 10:92678744-92678745 10:90918987-90918988
9 ANKRD1 NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)SNV Benign/Likely benign 178005 rs147484763 10:92679983-92679983 10:90920226-90920226
10 ANKRD1 NM_014391.2(ANKRD1):c.346-35_346-12deldeletion Benign/Likely benign 516096 rs751458325 10:92678741-92678764 10:90918984-90919007
11 ANKRD1 NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)SNV Benign/Likely benign 45625 rs28730751 10:92679985-92679985 10:90920228-90920228
12 ANKRD1 NM_014391.2(ANKRD1):c.-17A>GSNV Benign/Likely benign 136404 rs79341122 10:92680801-92680801 10:90921044-90921044
13 ANKRD1 NM_014391.2(ANKRD1):c.346-19_346-14deldeletion Benign 45632 rs58762441 10:92678743-92678748 10:90918986-90918991
14 ANKRD1 NM_014391.2(ANKRD1):c.346-19_346-18deldeletion Benign 201655 rs398014415 10:92678747-92678748 10:90918990-90918991
15 ANKRD1 NM_014391.2(ANKRD1):c.346-15_346-14insAinsertion Benign 522238 rs60700562 10:92678743-92678744 10:90918986-90918987
16 ANKRD1 NM_014391.2(ANKRD1):c.208-16C>TSNV Benign 136401 rs79793575 10:92679041-92679041 10:90919284-90919284

Expression for Total Anomalous Pulmonary Venous Return 1

Search GEO for disease gene expression data for Total Anomalous Pulmonary Venous Return 1.

Pathways for Total Anomalous Pulmonary Venous Return 1

Pathways related to Total Anomalous Pulmonary Venous Return 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 TBX5 NKX2-5 GATA4 CFC1
2 11.52 TBX5 NKX2-5 GATA4
3 11.38 TBX5 NODAL NKX2-5 GATA4
4 10.99 TBX5 NKX2-5 GATA4
5 10.75 NKX2-5 GATA4
6 10.65 TBX5 NODAL NKX2-5 GATA4
7 10.03 NKX2-5 GATA4

GO Terms for Total Anomalous Pulmonary Venous Return 1

Cellular components related to Total Anomalous Pulmonary Venous Return 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 I band GO:0031674 8.96 ANKRD2 ANKRD1
2 myofibril GO:0030016 8.8 ANKRD23 ANKRD2 ANKRD1

Biological processes related to Total Anomalous Pulmonary Venous Return 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.92 ZIC3 TBX5 NKX2-5 MYRF GATA4
2 heart development GO:0007507 9.77 TBX5 NODAL NKX2-5 CFC1 ACADM
3 anterior/posterior pattern specification GO:0009952 9.72 ZIC3 NODAL CFC1
4 lung development GO:0030324 9.67 ZIC3 TBX5 NODAL
5 heart looping GO:0001947 9.62 ZIC3 NODAL NKX2-5 GATA4
6 determination of left/right symmetry GO:0007368 9.61 ZIC3 NODAL CFC1
7 endoderm development GO:0007492 9.58 NODAL GATA4
8 positive regulation of vascular endothelial growth factor production GO:0010575 9.58 NODAL GATA4
9 cardiac muscle tissue development GO:0048738 9.57 NKX2-5 GATA4
10 embryonic heart tube development GO:0035050 9.56 NODAL NKX2-5
11 negative regulation of myotube differentiation GO:0010832 9.54 NKX2-5 ANKRD2
12 cardiac muscle tissue morphogenesis GO:0055008 9.51 NKX2-5 ANKRD1
13 nodal signaling pathway GO:0038092 9.48 NODAL CFC1
14 cardiac ventricle morphogenesis GO:0003208 9.46 NKX2-5 GATA4
15 atrial septum morphogenesis GO:0060413 9.43 TBX5 NKX2-5 GATA4
16 bundle of His development GO:0003166 9.4 TBX5 NKX2-5
17 endocardial cushion development GO:0003197 9.33 TBX5 GATA4 CRELD1
18 positive regulation of cardioblast differentiation GO:0051891 9.13 TBX5 NKX2-5 GATA4
19 cardiac muscle cell differentiation GO:0055007 8.92 TBX5 NKX2-5 GATA4 ACADM

Molecular functions related to Total Anomalous Pulmonary Venous Return 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.62 ZIC3 TBX5 NKX2-5 GATA4
2 transcription factor binding GO:0008134 9.56 TBX5 NKX2-5 GATA4 ANKRD1
3 sequence-specific DNA binding GO:0043565 9.55 ZIC3 TBX5 NKX2-5 MYRF GATA4
4 RNA polymerase II sequence-specific DNA-binding transcription factor binding GO:0061629 8.96 ANKRD2 ANKRD1
5 titin binding GO:0031432 8.8 ANKRD23 ANKRD2 ANKRD1

Sources for Total Anomalous Pulmonary Venous Return 1

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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