TAPVR1
MCID: TTL012
MIFTS: 57

Total Anomalous Pulmonary Venous Return 1 (TAPVR1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic 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 6
Anomalous Pulmonary Venous Return 56 6
Congenital Total Pulmonary Venous Return Anomaly 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
Pulmonary Venolobar Syndrome 12
Hypogenetic Lung Syndrome 58
Scimitar Anomaly 56
Halasz Syndrome 58
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 heart septal defect and heterotaxy. An important gene associated with Total Anomalous Pulmonary Venous Return 1 is ANKRD1 (Ankyrin Repeat Domain 1), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Remifentanil and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are respiratory distress and ventricular septal defect

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 heart septal defect 31.2 ZIC3 TBX5 NKX2-5 GATA4 CRELD1
2 heterotaxy 30.8 ZIC3 NODAL MMP21
3 atrial heart septal defect 30.5 ZIC3 TBX5 PVR NODAL NKX2-5 GATA4
4 patent ductus arteriosus 1 30.4 ZIC3 TBX5 NKX2-5 GATA4 CRELD1
5 dextro-looped transposition of the great arteries 30.2 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
6 sinoatrial node disease 30.2 TBX5 NKX2-5
7 tetralogy of fallot 30.2 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
8 patent foramen ovale 30.2 TBX5 PVR NKX2-5 GATA4 CRELD1
9 ventricular septal defect 30.1 ZIC3 TBX5 NODAL NKX2-5 GATA4
10 double outlet right ventricle 30.1 ZIC3 TBX5 NODAL NKX2-5 GATA4
11 right atrial isomerism 30.1 ZIC3 TBX5 NODAL NKX2-5 ANKRD1
12 hypoplastic left heart syndrome 29.9 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
13 atrioventricular septal defect 29.6 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
14 heart disease 29.3 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
15 congenital heart defects, multiple types, 6 11.7
16 cardiac-urogenital syndrome 11.7
17 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 11.7
18 lung agenesis, congenital heart defects, and thumb anomalies syndrome 11.6
19 structural heart defects and renal anomalies syndrome 11.6
20 manouvrier syndrome 11.6
21 meacham winn culler syndrome 11.6
22 pulmonary venous return anomaly 11.3
23 pulmonary hypertension 10.8
24 cor triatriatum 10.7
25 cyanosis, transient neonatal 10.6
26 mitral valve stenosis 10.6
27 pulmonary vein stenosis 10.5
28 cardiac arrest 10.4
29 gonadal dysgenesis 10.4
30 turner syndrome 10.4
31 cor triatriatum sinister 10.4
32 single ventricular heart 10.4
33 heart, malformation of 10.4 TBX5 NKX2-5
34 congestive heart failure 10.3
35 dextrocardia 10.3
36 complete atrioventricular canal-left heart obstruction syndrome 10.3 GATA4 CRELD1
37 complete atrioventricular canal-tetralogy of fallot syndrome 10.3 GATA4 CRELD1
38 complete atrioventricular canal-ventricle hypoplasia syndrome 10.3 GATA4 CRELD1
39 partial atrioventricular canal 10.3 GATA4 CRELD1
40 pulmonary artery hypoplasia 10.3
41 pulmonary hypertension, primary, 1 10.3
42 varicose veins 10.3
43 respiratory failure 10.3
44 pulmonary edema 10.3
45 47,xyy 10.3
46 interatrial communication 10.3
47 tricuspid valve disease 10.3 ZIC3 TBX5 NKX2-5
48 char syndrome 10.2 TBX5 NKX2-5 CRELD1
49 atrial septal defect 5 10.2 TBX5 NKX2-5
50 eisenmenger syndrome 10.2 NKX2-5 GATA4

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 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002098
2 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001629
3 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
4 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002092
5 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
6 atrial septal defect 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001631
7 coarctation of aorta 58 31 frequent (33%) Frequent (79-30%),Very rare (<4-1%) HP:0001680
8 dextrocardia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001651
9 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002089
10 tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001649
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 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
20 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
21 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
22 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
23 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
24 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
25 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004383
26 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
27 double outlet right ventricle 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001719
28 apneic episodes in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0005949
29 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
30 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
31 left-to-right shunt 58 31 occasional (7.5%) Occasional (29-5%) HP:0012382
32 mitral atresia 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0011560
33 bronchogenic cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100730
34 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
35 low 1-minute apgar score 58 31 occasional (7.5%) Occasional (29-5%) HP:0030918
36 increased anterioposterior diameter of thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0005253
37 abnormality of the hemidiaphragms 58 31 occasional (7.5%) Occasional (29-5%) HP:0040045
38 partial anomalous pulmonary venous return 58 31 occasional (7.5%) Occasional (29-5%) HP:0010773
39 pulmonary sequestration 58 31 occasional (7.5%) Occasional (29-5%) HP:0100632
40 heterotaxy 58 31 occasional (7.5%) Occasional (29-5%) HP:0030853
41 single ventricle 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001750
42 descending aorta hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0025495
43 hypoplasia of the diaphragm 58 31 occasional (7.5%) Occasional (29-5%) HP:0040044
44 right ventricular failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001708
45 low-output congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0009805
46 cardiac total anomalous pulmonary venous connection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011720
47 infracardiac total anomalous pulmonary venous connection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011721
48 mixed total anomalous pulmonary venous connection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011722
49 low 5-minute apgar score 58 31 occasional (7.5%) Occasional (29-5%) HP:0030919
50 tapered distal phalanges of finger 31 occasional (7.5%) HP:0009884

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 9.97 ACADM ANKRD1 ANKRD2 ANKRD23 CRELD1 GATA4
2 muscle MP:0005369 9.65 ACADM ANKRD1 ANKRD2 ANKRD23 GATA4 NKX2-5
3 normal MP:0002873 9.23 ANKRD1 ANKRD23 GATA4 NKX2-5 NODAL PDGFRA

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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4 Anesthetics Phase 4
5 Narcotics Phase 4
6 Platelet Aggregation Inhibitors Phase 4
7 Anesthetics, General Phase 4
8 Analgesics, Opioid Phase 4
9 Neuromuscular Agents Phase 4
10 Anesthetics, Inhalation Phase 4
11 Neuromuscular Nondepolarizing Agents Phase 4
12 Central Nervous System Depressants Phase 4
13 Neuromuscular Blocking Agents Phase 4
14 Analgesics Phase 4

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 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
3 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689
4 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
Heart, Lung, Liver, Fetal Lung, Spinal Cord, Pancreas

Publications for Total Anomalous Pulmonary Venous Return 1

Articles related to Total Anomalous Pulmonary Venous Return 1:

(show top 50) (show all 603)
# Title Authors PMID Year
1
The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage "scimitar syndrome". 61 56
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
Scimitar Syndrome: An Incidental Finding. 61
31707549 2020
11
[Different surgical approaches to Scimitar syndrome]. 61
31974320 2020
12
Variant scimitar syndrome with intralobar pulmonary sequestration containing adenocarcinoma. 61
30830591 2020
13
Minimally invasive thoracoscopic surgery for scimitar syndrome variant. 61
31324128 2020
14
The Hypogenetic Lung (Scimitar) Syndrome. 61
31660808 2019
15
[Clinical analysis of scimitar syndrome in 6 pediatric patients]. 61
31530357 2019
16
[Percutaneous palliation in a child with scimitar syndrome]. 61
31416712 2019
17
Horseshoe lung associated with scimitar syndrome. 61
31420418 2019
18
Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia. 61
31455287 2019
19
Developmental lung anomalies in adults: A pictorial review. 61
31326738 2019
20
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. 61
31069960 2019
21
Scimitar sign in the absence of anomalous pulmonary venous drainage: a case report. 61
31449598 2019
22
Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins. 61
31082945 2019
23
Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins. 61
31082974 2019
24
Late esophageal perforation due to an Amplatzer device in scimitar syndrome. 61
31053378 2019
25
Scimitar syndrome: A rare case of recurrent pneumonia. 61
30890840 2019
26
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 61
30590510 2019
27
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 61
29800132 2019
28
Novel Technique of Surgical Management of Scimitar Syndrome. 61
31198608 2019
29
Unusual Course of Scimitar Syndrome Preceded by Lung Hypoplasia. 61
31929932 2019
30
An unusual variant of scimitar syndrome predisposing to recurrent pneumonia. 61
30775240 2019
31
Repair of Scimitar syndrome using an extracardiac conduit in pediatric patients: Report of two patients. 61
30745770 2019
32
Anesthetic considerations for cesarean section in a parturient complicated by Scimitar syndrome-like pathophysiology. 61
32026982 2018
33
Positional Oxygenation Changes in an Adult Patient With Scimitar Syndrome: A Case Report. 61
29894351 2018
34
Meandering pulmonary veins mimicking scimitar syndrome. 61
29991371 2018
35
Multimodality imaging of scimitar syndrome in adults: A report of four cases. 61
30136740 2018
36
The pericardial tunnel technique might produce optimal morphological repair of the scimitar syndrome. 61
29788282 2018
37
Pericardial tunnel technique in the surgical management of the vertical form of scimitar syndrome. 61
29608668 2018
38
Scimitar Syndrome with Partial Left Pulmonary Artery Sling in a Neonate. 61
30271095 2018
39
A rare case of horseshoe lung with scimitar syndrome and persistent left superior vena cava. 61
29970781 2018
40
Anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. 61
29550261 2018
41
Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis. 61
28926132 2018
42
Combined minimally invasive repair of the adult form of the scimitar syndrome and organic mitral regurgitation. 61
29415266 2018
43
Left circumflex coronary artery from the pulmonary artery in scimitar syndrome. 61
29541807 2018
44
Anomalous systemic and pulmonary veins-An unusual coexistence. 61
29648693 2018
45
A rare case of a patient with aortic root aneurysm, bicuspid aortic valve, and Scimitar syndrome with anomalous venous return to the right superior pulmonary vein. 61
29357959 2018
46
An Unusual Neonatal Presentation of Scimitar Syndrome. 61
29930881 2018
47
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 61
29446546 2018
48
The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 61
29029134 2018
49
A battle in the crusade to understand scimitar syndrome. 61
29136136 2018
50
Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis. 61
29054305 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.-17A>GSNV Conflicting interpretations of pathogenicity 136404 rs79341122 10:92680801-92680801 10:90921044-90921044
3 ANKRD1 NM_014391.2(ANKRD1):c.346-17_346-10delshort repeat Conflicting interpretations of pathogenicity 45631 rs397517250 10:92678739-92678746 10:90918982-90918989
4 ANKRD1 NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val)SNV Conflicting interpretations of pathogenicity 45639 rs35550482 10:92675322-92675322 10:90915565-90915565
5 ANKRD1 NM_014391.2(ANKRD1):c.652-10A>TSNV Conflicting interpretations of pathogenicity 45636 rs397517252 10:92675647-92675647 10:90915890-90915890
6 ANKRD1 NM_014391.2(ANKRD1):c.346-29_346-12deldeletion Conflicting interpretations of pathogenicity 301605 rs72003210 10:92678741-92678758 10:90918984-90919001
7 SMAD2 SNV Uncertain significance 545558 18:45422938-45422938
8 ANKRD1 NM_014391.2(ANKRD1):c.710A>G (p.His237Arg)SNV Uncertain significance 518231 rs145326465 10:92675579-92675579 10:90915822-90915822
9 ANKRD1 NM_014391.2(ANKRD1):c.346-16_346-15insATAinsertion Likely benign 522240 rs60923931 10:92678744-92678745 10:90918987-90918988
10 ANKRD1 NM_014391.2(ANKRD1):c.148G>C (p.Ala50Pro)SNV Benign/Likely benign 45625 rs28730751 10:92679985-92679985 10:90920228-90920228
11 ANKRD1 NM_014391.2(ANKRD1):c.150C>G (p.Ala50=)SNV Benign/Likely benign 178005 rs147484763 10:92679983-92679983 10:90920226-90920226
12 ANKRD1 NM_014391.2(ANKRD1):c.346-35_346-12deldeletion Benign/Likely benign 516096 rs751458325 10:92678741-92678764 10:90918984-90919007
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.208-16C>TSNV Benign 136401 rs79793575 10:92679041-92679041 10:90919284-90919284
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.346-19_346-18deldeletion Benign 201655 rs398014415 10:92678747-92678748 10:90918990-90918991

UniProtKB/Swiss-Prot genetic disease variations for Total Anomalous Pulmonary Venous Return 1:

73
# Symbol AA change Variation ID SNP ID
1 ANKRD1 p.Thr116Met VAR_047112 rs142354133

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 PDGFRA NKX2-5 GATA4
2 11.38 TBX5 NODAL NKX2-5 GATA4
3 10.99 TBX5 NKX2-5 GATA4
4 10.75 TBX5 PDGFRA NODAL NKX2-5 GATA4
5 10.71 NKX2-5 GATA4
6 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 8.62 ANKRD2 ANKRD1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 ZIC3 TBX5 NKX2-5 MYRF GATA4
2 heart development GO:0007507 9.8 TBX5 NODAL NKX2-5 ACADM
3 lung development GO:0030324 9.71 ZIC3 TBX5 PDGFRA NODAL
4 determination of left/right symmetry GO:0007368 9.63 ZIC3 NODAL MMP21
5 heart looping GO:0001947 9.62 ZIC3 NODAL NKX2-5 GATA4
6 embryonic heart tube development GO:0035050 9.55 NODAL NKX2-5
7 negative regulation of myotube differentiation GO:0010832 9.54 NKX2-5 ANKRD2
8 cardiac muscle tissue development GO:0048738 9.54 SGCD NKX2-5 GATA4
9 heart contraction GO:0060047 9.52 SGCD NKX2-5
10 cardiac muscle tissue morphogenesis GO:0055008 9.51 NKX2-5 ANKRD1
11 cardiac ventricle morphogenesis GO:0003208 9.48 NKX2-5 GATA4
12 bundle of His development GO:0003166 9.43 TBX5 NKX2-5
13 atrial septum morphogenesis GO:0060413 9.43 TBX5 NKX2-5 GATA4
14 endocardial cushion development GO:0003197 9.33 TBX5 GATA4 CRELD1
15 positive regulation of cardioblast differentiation GO:0051891 9.13 TBX5 NKX2-5 GATA4
16 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 transcription factor binding GO:0008134 9.56 TBX5 NKX2-5 GATA4 ANKRD1
2 sequence-specific DNA binding GO:0043565 9.55 ZIC3 TBX5 NKX2-5 MYRF GATA4
3 RNA polymerase II sequence-specific DNA-binding transcription factor binding GO:0061629 8.96 ANKRD2 ANKRD1
4 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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