TAPVR1
MCID: TTL012
MIFTS: 49

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 57
Scimitar Syndrome 57 12 75 59 44 15 17
Total Anomalous Pulmonary Venous Return 57 12 74 13 6
Anomalous Pulmonary Venous Return 57 6
Congenital Total Pulmonary Venous Return Anomaly 59
Pulmonary Venous Return, Total Anomalous, Type 1 40
Epibronchial Right Pulmonary Vein Syndrome 59
Pulmonary Venous Return, Total Anomalous 40
Anomalous Pulmonary Venous Return; Apvr 57
Congenital Pulmonary Venolobar Syndrome 59
Pulmonary Venolobar Syndrome 12
Hypogenetic Lung Syndrome 59
Scimitar Anomaly 57
Halasz Syndrome 59
Tapvr1 57
Tapvr 74
Apvr 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
total anomalous pulmonary venous return 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4297
OMIM 57 106700
ICD9CM 35 747.41
MeSH 44 D012587
SNOMED-CT 68 39905002
ICD10 33 Q26.2 Q26.8
MESH via Orphanet 45 D012587
ICD10 via Orphanet 34 Q26.2 Q26.8
UMLS via Orphanet 73 C0036400
UMLS 72 C0036400

Summaries for Total Anomalous Pulmonary Venous Return 1

UniProtKB/Swiss-Prot : 74 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 congenital heart defects, multiple types, 6 and cardiac-urogenital syndrome. An important gene associated with Total Anomalous Pulmonary Venous Return 1 is ANKRD1 (Ankyrin Repeat Domain 1), and among its related pathways/superpathways is the visual cycle I (vertebrates). The drugs Remifentanil and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and liver, and related phenotypes are congestive heart failure and atrial septal defect

OMIM : 57 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 : 75 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 150)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 6 11.7
2 cardiac-urogenital syndrome 11.7
3 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 11.7
4 lung agenesis, congenital heart defects, and thumb anomalies syndrome 11.6
5 structural heart defects and renal anomalies syndrome 11.6
6 manouvrier syndrome 11.6
7 meacham winn culler syndrome 11.6
8 pulmonary venous return anomaly 11.3
9 heart septal defect 10.9
10 atrial heart septal defect 10.9
11 pulmonary hypertension 10.8
12 cor triatriatum 10.6
13 cyanosis, transient neonatal 10.6
14 mitral valve stenosis 10.6
15 heterotaxy 10.5
16 pulmonary vein stenosis 10.5
17 tetralogy of fallot 10.4
18 cardiac arrest 10.4
19 gonadal dysgenesis 10.4
20 turner syndrome 10.4
21 transposition of the great arteries 10.4
22 aortic coarctation 10.4
23 cor triatriatum sinister 10.4
24 patent ductus arteriosus 1 10.3
25 patent foramen ovale 10.3
26 dextrocardia 10.3
27 single ventricular heart 10.3
28 pulmonary hypertension, primary, 1 10.3
29 varicose veins 10.3
30 respiratory failure 10.3
31 pulmonary edema 10.3
32 congestive heart failure 10.3
33 47,xyy 10.3
34 interatrial communication 10.3
35 pulmonary artery hypoplasia 10.2
36 laryngeal cleft 10.2
37 progressive familial heart block, type ia 10.2
38 papillomatosis, confluent and reticulated 10.2
39 thrombophilia due to thrombin defect 10.2
40 williams-beuren syndrome 10.2
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
42 progressive familial heart block, type ib 10.2
43 esophageal varix 10.2
44 right bundle branch block 10.2
45 ventricular septal defect 10.2
46 vascular disease 10.2
47 double outlet right ventricle 10.2
48 situs inversus 10.2
49 hypoplastic left heart syndrome 10.2
50 double discordia 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:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
2 atrial septal defect 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001631
3 coarctation of aorta 59 32 frequent (33%) Frequent (79-30%),Very rare (<4-1%) HP:0001680
4 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001629
5 dextrocardia 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001651
6 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002089
7 pulmonary artery hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0004971
8 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002205
9 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002092
10 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
11 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
12 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002098
13 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
14 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004383
15 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
16 left-to-right shunt 59 32 occasional (7.5%) Occasional (29-5%) HP:0012382
17 mitral atresia 59 32 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0011560
18 bronchogenic cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0100730
19 double outlet right ventricle 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001719
20 abnormality of the hemidiaphragms 59 32 occasional (7.5%) Occasional (29-5%) HP:0040045
21 partial anomalous pulmonary venous return 59 32 occasional (7.5%) Occasional (29-5%) HP:0010773
22 pulmonary sequestration 59 32 occasional (7.5%) Occasional (29-5%) HP:0100632
23 single ventricle 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001750
24 descending aorta hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0025495
25 hypoplasia of the diaphragm 59 32 occasional (7.5%) Occasional (29-5%) HP:0040044
26 tapered distal phalanges of finger 32 occasional (7.5%) HP:0009884
27 heart block 59 32 very rare (1%) Very rare (<4-1%) HP:0012722
28 truncus arteriosus 59 32 very rare (1%) Very rare (<4-1%) HP:0001660
29 tricuspid atresia 59 32 very rare (1%) Very rare (<4-1%) HP:0011662
30 abnormality of the vertebral column 59 32 very rare (1%) Very rare (<4-1%) HP:0000925
31 pneumothorax 59 32 very rare (1%) Very rare (<4-1%) HP:0002107
32 abnormality of the genitourinary system 59 32 very rare (1%) Very rare (<4-1%) HP:0000119
33 anomalous origin of left coronary artery from the pulmonary artery 59 32 very rare (1%) Very rare (<4-1%) HP:0011638
34 left superior vena cava draining to coronary sinus 59 32 very rare (1%) Very rare (<4-1%) HP:0011670
35 interrupted inferior vena cava with azygous continuation 59 32 very rare (1%) Very rare (<4-1%) HP:0011671
36 hepatomegaly 59 Occasional (29-5%)
37 fatigue 59 Frequent (79-30%)
38 cardiomegaly 59 Occasional (29-5%)
39 pallor 59 Occasional (29-5%)
40 mitral regurgitation 59 Very rare (<4-1%)
41 abnormal lung morphology 59 Frequent (79-30%)
42 pulmonary artery stenosis 59 Occasional (29-5%)
43 abnormality of cardiovascular system morphology 59 Frequent (79-30%)
44 transposition of the great arteries 59 Very rare (<4-1%)
45 respiratory failure requiring assisted ventilation 59 Occasional (29-5%)
46 tachycardia 59 Frequent (79-30%)
47 hypoplastic aortic arch 59 Very rare (<4-1%)
48 abnormal heart morphology 59 Frequent (79-30%)
49 poor suck 59 Occasional (29-5%)
50 cyanosis 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
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

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 15)
# 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 Analgesics Phase 4
5 Narcotics Phase 4
6 Neuromuscular Nondepolarizing Agents Phase 4
7 Neuromuscular Agents Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Neuromuscular Blocking Agents Phase 4
10 Central Nervous System Depressants Phase 4
11 Anesthetics Phase 4
12 Anesthetics, General Phase 4
13 Analgesics, Opioid Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Anesthetics, Inhalation 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:

41
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 595)
# Title Authors PMID Year
1
The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage "scimitar syndrome". 38 8
14426379 1960
2
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. 8
20071345 2010
3
Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12. 8
17036341 2006
4
A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. 8
7847375 1995
5
Familial total anomalous pulmonary venous return: a large Utah-Idaho family. 8
7747759 1994
6
Father and two children with total anomalous pulmonary venous connection. 8
1887837 1991
7
Total anomalous pulmonary venous connection in siblings. Report on three families. 8
3564987 1987
8
Familial total anomalous pulmonary venous return. 8
5097138 1971
9
Familial aspects of congenital heart disease. 8
13878593 1962
10
Horseshoe lung associated with scimitar syndrome. 38
31420418 2019
11
[Percutaneous palliation in a child with scimitar syndrome]. 38
31416712 2019
12
Developmental lung anomalies in adults: A pictorial review. 38
31326738 2019
13
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. 38
31069960 2019
14
Minimally invasive thoracoscopic surgery for scimitar syndrome variant. 38
31324128 2019
15
Late esophageal perforation due to an Amplatzer device in scimitar syndrome. 38
31053378 2019
16
Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins. 38
31082974 2019
17
Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins. 38
31082945 2019
18
Scimitar syndrome: A rare case of recurrent pneumonia. 38
30890840 2019
19
Variant scimitar syndrome with intralobar pulmonary sequestration containing adenocarcinoma. 38
30830591 2019
20
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 38
30590510 2019
21
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 38
29800132 2019
22
Repair of Scimitar syndrome using an extracardiac conduit in pediatric patients: Report of two patients. 38
30745770 2019
23
An unusual variant of scimitar syndrome predisposing to recurrent pneumonia. 38
30775240 2019
24
Novel Technique of Surgical Management of Scimitar Syndrome. 38
31198608 2019
25
Positional Oxygenation Changes in an Adult Patient With Scimitar Syndrome: A Case Report. 38
29894351 2018
26
Multimodality imaging of scimitar syndrome in adults: A report of four cases. 38
30136740 2018
27
Meandering pulmonary veins mimicking scimitar syndrome. 38
29991371 2018
28
Pericardial tunnel technique in the surgical management of the vertical form of scimitar syndrome. 38
29608668 2018
29
The pericardial tunnel technique might produce optimal morphological repair of the scimitar syndrome. 38
29788282 2018
30
Scimitar Syndrome with Partial Left Pulmonary Artery Sling in a Neonate. 38
30271095 2018
31
Anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. 38
29550261 2018
32
A rare case of horseshoe lung with scimitar syndrome and persistent left superior vena cava. 38
29970781 2018
33
Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis. 38
28926132 2018
34
Combined minimally invasive repair of the adult form of the scimitar syndrome and organic mitral regurgitation. 38
29415266 2018
35
Left circumflex coronary artery from the pulmonary artery in scimitar syndrome. 38
29541807 2018
36
Anomalous systemic and pulmonary veins-An unusual coexistence. 38
29648693 2018
37
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. 38
29357959 2018
38
An Unusual Neonatal Presentation of Scimitar Syndrome. 38
29930881 2018
39
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 38
29446546 2018
40
A battle in the crusade to understand scimitar syndrome. 38
29136136 2018
41
The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. 38
29029134 2018
42
Asymptomatic atresia of the anomalous pulmonary vein in a patient with scimitar syndrome presenting in childhood. 38
28847332 2018
43
Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis. 38
29054305 2018
44
Acute Type A Aortic Dissection with Iliac Malperfusion in a Patient with Scimitar Syndrome. 38
29279532 2018
45
Thoracoscopic treatment of left-to-right shunt in a child with scimitar syndrome. 38
28889820 2018
46
Scimitar syndrome associated with aberrant right subclavian artery, diaphragmatic hernia, and urinary anomalies - case report and review of the literature. 38
30173274 2018
47
Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both? 38
30003023 2018
48
Scimitar syndrome: Anaesthetic management for pulmonary resection of the unaffected lung. 38
28554711 2017
49
Modified In Situ Pericardial Rerouting Technique for Scimitar Syndrome Repair. 38
29187109 2017
50
Uncommon Variant of Scimitar Syndrome. 38
28558923 2017

Variations for Total Anomalous Pulmonary Venous Return 1

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

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ANKRD1 NM_014391.2(ANKRD1): c.346-17_346-10del short repeat Conflicting interpretations of pathogenicity rs397517250 10:92678739-92678746 10:90918982-90918989
2 ANKRD1 NM_014391.2(ANKRD1): c.652-10A> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517252 10:92675647-92675647 10:90915890-90915890
3 ANKRD1 NM_014391.2(ANKRD1): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35550482 10:92675322-92675322 10:90915565-90915565
4 ANKRD1 NM_014391.2(ANKRD1): c.-17A> G single nucleotide variant Conflicting interpretations of pathogenicity rs79341122 10:92680801-92680801 10:90921044-90921044
5 ANKRD1 NM_014391.2(ANKRD1): c.346-19_346-14delinsTTAT deletion Conflicting interpretations of pathogenicity rs794728971 10:92678743-92678744 10:90918986-90918987
6 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del deletion Conflicting interpretations of pathogenicity rs72003210 10:92678741-92678758 10:90918984-90919001
7 SMAD2 single nucleotide variant Uncertain significance 18:45422938-45422938 :0-0
8 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 10:92675579-92675579 10:90915822-90915822
9 ANKRD1 NM_014391.2(ANKRD1): c.346-16_346-15insATA insertion Likely benign rs60923931 10:92678744-92678745 10:90918987-90918988
10 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del deletion Benign/Likely benign rs751458325 10:92678741-92678764 10:90918984-90919007
11 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 10:92679983-92679983 10:90920226-90920226
12 ANKRD1 NM_014391.2(ANKRD1): c.208-16C> T single nucleotide variant Benign rs79793575 10:92679041-92679041 10:90919284-90919284
13 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs398014415 10:92678748-92678749 10:90918991-90918992
14 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14insA insertion Benign rs60700562 10:92678743-92678744 10:90918986-90918987
15 ANKRD1 NM_014391.2(ANKRD1): c.148G> C (p.Ala50Pro) single nucleotide variant Benign rs28730751 10:92679985-92679985 10:90920228-90920228
16 ANKRD1 NM_014391.2(ANKRD1): c.346-19_346-14del deletion Benign rs58762441 10:92678743-92678748 10:90918986-90918991

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

74
# 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
10.36 RDH10 RBP5

GO Terms for Total Anomalous Pulmonary Venous Return 1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of lipid metabolic process GO:0019216 8.62 ANKRD1 ACADM

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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