TAPVR
MCID: TTL012
MIFTS: 42

Total Anomalous Pulmonary Venous Return 1 (TAPVR)

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 58 13
Scimitar Syndrome 58 12 77 60 45 15 17
Total Anomalous Pulmonary Venous Return 58 12 76 30 6
Anomalous Pulmonary Venous Return 58 6
Congenital Total Pulmonary Venous Return Anomaly 60
Pulmonary Venous Return, Total Anomalous, Type 1 41
Epibronchial Right Pulmonary Vein Syndrome 60
Pulmonary Venous Return, Total Anomalous 41
Anomalous Pulmonary Venous Return; Apvr 58
Congenital Pulmonary Venolobar Syndrome 60
Pulmonary Venolobar Syndrome 12
Hypogenetic Lung Syndrome 60
Scimitar Anomaly 58
Halasz Syndrome 60
Tapvr1 58
Tapvr 76
Apvr 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant


HPO:

33
total anomalous pulmonary venous return 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4297
OMIM 58 106700
ICD9CM 36 747.41
MeSH 45 D012587
SNOMED-CT 69 39905002
ICD10 34 Q26.2 Q26.8
MESH via Orphanet 46 D012587
ICD10 via Orphanet 35 Q26.2 Q26.8
UMLS via Orphanet 75 C0036400
UMLS 74 C0036400

Summaries for Total Anomalous Pulmonary Venous Return 1

UniProtKB/Swiss-Prot : 76 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 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities. 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). Affiliated tissues include lung and heart, and related phenotypes are tapered distal phalanges of finger and recurrent respiratory infections

OMIM : 58 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 : 77 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 76)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 6 11.6
2 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 11.6
3 lung agenesis, congenital heart defects, and thumb anomalies syndrome 11.4
4 structural heart defects and renal anomalies syndrome 11.4
5 cardiac-urogenital syndrome 11.4
6 manouvrier syndrome 11.4
7 meacham winn culler syndrome 11.4
8 perrault syndrome 1 11.1
9 pulmonary venous return anomaly 11.1
10 atrial heart septal defect 10.7
11 pulmonary hypertension 10.6
12 cor triatriatum 10.5
13 mitral valve stenosis 10.4
14 tetralogy of fallot 10.4
15 turner syndrome 10.4
16 heart disease 10.3
17 aortic coarctation 10.3
18 cor triatriatum sinister 10.3
19 transposition of the great arteries 10.3
20 hypoplastic left heart syndrome 1 10.2
21 hypoplastic left heart syndrome 10.2
22 esophageal varix 10.2
23 situs inversus 10.2
24 dextrocardia 10.2
25 heterotaxy 10.2
26 vater/vacterl association 10.0
27 mitral valve insufficiency 10.0
28 vacterl association 10.0
29 pneumonia 10.0
30 atrial standstill 1 10.0
31 pancreas, annular 10.0
32 smith-magenis syndrome 10.0
33 varicose veins 10.0
34 williams-beuren syndrome 10.0
35 right atrial isomerism 10.0
36 pulmonic stenosis 10.0
37 mayer-rokitansky-kuster-hauser syndrome 10.0
38 spondylocostal dysostosis 1, autosomal recessive 10.0
39 heterotaxy, visceral, 1, x-linked 10.0
40 patent ductus arteriosus 1 10.0
41 anomalous left coronary artery from the pulmonary artery 10.0
42 thrombosis 10.0
43 pulmonary edema 10.0
44 portal vein thrombosis 10.0
45 synostosis 10.0
46 biliary atresia 10.0
47 tracheal stenosis 10.0
48 aortic aneurysm 10.0
49 double outlet right ventricle 10.0
50 neurofibroma 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 tapered distal phalanges of finger 33 occasional (7.5%) HP:0009884
2 recurrent respiratory infections 33 HP:0002205
3 pulmonary arterial hypertension 33 HP:0002092
4 aplasia/hypoplasia of the nails 33 HP:0008386
5 total anomalous pulmonary venous return 33 HP:0005160

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 ACADM ANKRD1 CORIN IFT88 NODAL RDH10

Drugs & Therapeutics for Total Anomalous Pulmonary Venous Return 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Genetic tests related to Total Anomalous Pulmonary Venous Return 1:

# Genetic test Affiliating Genes
1 Total Anomalous Pulmonary Venous Return 30

Anatomical Context for Total Anomalous Pulmonary Venous Return 1

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

42
Lung, Heart

Publications for Total Anomalous Pulmonary Venous Return 1

Articles related to Total Anomalous Pulmonary Venous Return 1:

(show top 50) (show all 356)
# Title Authors Year
1
Variant scimitar syndrome with intralobar pulmonary sequestration containing adenocarcinoma. ( 30830591 )
2019
2
Scimitar syndrome: A rare case of recurrent pneumonia. ( 30890840 )
2019
3
An unusual variant of scimitar syndrome predisposing to recurrent pneumonia. ( 30775240 )
2019
4
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. ( 29800132 )
2019
5
Corrigendum to: The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. ( 30590510 )
2019
6
Repair of Scimitar syndrome using an extracardiac conduit in pediatric patients: Report of two patients. ( 30745770 )
2019
7
Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis. ( 29054305 )
2018
8
Asymptomatic atresia of the anomalous pulmonary vein in a patient with scimitar syndrome presenting in childhood. ( 28847332 )
2018
9
Thoracoscopic treatment of left-to-right shunt in a child with scimitar syndrome. ( 28889820 )
2018
10
The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. ( 29029134 )
2018
11
A battle in the crusade to understand scimitar syndrome. ( 29136136 )
2018
12
Acute Type A Aortic Dissection with Iliac Malperfusion in a Patient with Scimitar Syndrome. ( 29279532 )
2018
13
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. ( 29357959 )
2018
14
Combined minimally invasive repair of the adult form of the scimitar syndrome and organic mitral regurgitation. ( 29415266 )
2018
15
Left circumflex coronary artery from the pulmonary artery in scimitar syndrome. ( 29541807 )
2018
16
Anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. ( 29550261 )
2018
17
Pericardial tunnel technique in the surgical management of the vertical form of scimitar syndrome. ( 29608668 )
2018
18
The pericardial tunnel technique might produce optimal morphological repair of the scimitar syndrome. ( 29788282 )
2018
19
Positional Oxygenation Changes in an Adult Patient With Scimitar Syndrome: A Case Report. ( 29894351 )
2018
20
An Unusual Neonatal Presentation of Scimitar Syndrome. ( 29930881 )
2018
21
A rare case of horseshoe lung with scimitar syndrome and persistent left superior vena cava. ( 29970781 )
2018
22
Meandering pulmonary veins mimicking scimitar syndrome. ( 29991371 )
2018
23
Multimodality imaging of scimitar syndrome in adults: A report of four cases. ( 30136740 )
2018
24
Scimitar syndrome associated with aberrant right subclavian artery, diaphragmatic hernia, and urinary anomalies - case report and review of the literature. ( 30173274 )
2018
25
Scimitar Syndrome with Partial Left Pulmonary Artery Sling in a Neonate. ( 30271095 )
2018
26
Intrapulmonary ectopic liver associated with scimitar syndrome. ( 28937381 )
2017
27
Case 5 / 2017 - Scimitar Syndrome and Pulmonary Sequestration in Natural Progression in a 68-Year-Old Woman. ( 28977062 )
2017
28
Scimitar Syndrome-Complex Surgical Revision 3 Decades After Repair. ( 28109385 )
2017
29
Clinics in diagnostic imaging (173). Scimitar syndrome with horseshoe lung. ( 28111692 )
2017
30
Retrocardiac lung lobe in a neonate with Scimitar syndrome. ( 28371509 )
2017
31
An alternative cardiopulmonary bypass strategy for intracaval baffle repair of scimitar syndrome. ( 28402418 )
2017
32
Transcatheter correction of Scimitar syndrome: occlusion of abnormal pulmonary venous drainage and vascular supply in an infant. ( 28506323 )
2017
33
Uncommon presentation of adult-form scimitar syndrome associated with single left pulmonary vein in a pregnant woman. ( 28512102 )
2017
34
Scimitar syndrome: Anaesthetic management for pulmonary resection of the unaffected lung. ( 28554711 )
2017
35
Uncommon Variant of Scimitar Syndrome. ( 28558923 )
2017
36
Infantile scimitar syndrome with unusual associations. ( 28674724 )
2017
37
Scimitar Syndrome With an Absent Right Upper Lung Lobe. ( 28755737 )
2017
38
Lugones' technique for correction of Scimitar syndrome. ( 28880468 )
2017
39
Modified In Situ Pericardial Rerouting Technique for Scimitar Syndrome Repair. ( 29187109 )
2017
40
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
41
Transcatheter intervention in a child with scimitar syndrome. ( 27276087 )
2016
42
Adult Scimitar Syndrome with Severe Pulmonary Hypertension, Treated by Occlusion of Aortopulmonary Collateral. ( 27144801 )
2016
43
Scimitar Syndrome. ( 25941106 )
2016
44
Variants of the scimitar syndrome. ( 26374351 )
2016
45
Minimal access mitral valve repair in a patient with a right pneumonectomy for Scimitar syndrome. ( 26979655 )
2016
46
Scimitar syndrome: Surgical approach to an unusual anatomy of the scimitar vein. ( 27212856 )
2016
47
Scimitar syndrome with atrial fibrillation: Repair in an adult. ( 27378737 )
2016
48
Scimitar Syndrome Repair in Adults: Intermediate-Term Results Using an Extracardiac Conduit. ( 27424466 )
2016
49
A novel surgical procedure for scimitar syndrome: scimitar vein with right atrium and inferior vena cava wall flap. ( 27572997 )
2016
50
Right Thoracotomy to Repair Scimitar Syndrome and an Accessory Hemidiaphragm. ( 27645971 )
2016

Variations for Total Anomalous Pulmonary Venous Return 1

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

76
# Symbol AA change Variation ID SNP ID
1 ANKRD1 p.Thr116Met VAR_047112 rs142354133

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

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14insA insertion Benign rs60700562 GRCh38 Chromosome 10, 90918986: 90918987
2 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14insA insertion Benign rs60700562 GRCh37 Chromosome 10, 92678743: 92678744
3 ANKRD1 NM_014391.2(ANKRD1): c.346-16_346-15insATA insertion Likely benign rs60923931 GRCh38 Chromosome 10, 90918987: 90918988
4 ANKRD1 NM_014391.2(ANKRD1): c.346-16_346-15insATA insertion Likely benign rs60923931 GRCh37 Chromosome 10, 92678744: 92678745
5 SMAD2 NC_000018.9: g.45422938_45422938delA single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 45422938: 45422938
6 ANKRD1 NM_014391.2(ANKRD1): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35550482 GRCh38 Chromosome 10, 90915565: 90915565
7 ANKRD1 NM_014391.2(ANKRD1): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35550482 GRCh37 Chromosome 10, 92675322: 92675322
8 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs398014415 GRCh38 Chromosome 10, 90918991: 90918992
9 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs398014415 GRCh37 Chromosome 10, 92678748: 92678749
10 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh38 Chromosome 10, 90918986: 90918987
11 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh37 Chromosome 10, 92678743: 92678744
12 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 GRCh38 Chromosome 10, 90920226: 90920226
13 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 GRCh37 Chromosome 10, 92679983: 92679983
14 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del18 deletion Conflicting interpretations of pathogenicity rs72003210 GRCh37 Chromosome 10, 92678741: 92678758
15 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del18 deletion Conflicting interpretations of pathogenicity rs72003210 GRCh38 Chromosome 10, 90918984: 90919001
16 ANKRD1 NM_014391.2(ANKRD1): c.208-16C> T single nucleotide variant Benign rs79793575 GRCh38 Chromosome 10, 90919284: 90919284
17 ANKRD1 NM_014391.2(ANKRD1): c.208-16C> T single nucleotide variant Benign rs79793575 GRCh37 Chromosome 10, 92679041: 92679041
18 ANKRD1 NM_014391.2(ANKRD1): c.652-10A> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517252 GRCh38 Chromosome 10, 90915890: 90915890
19 ANKRD1 NM_014391.2(ANKRD1): c.652-10A> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517252 GRCh37 Chromosome 10, 92675647: 92675647
20 ANKRD1 NM_014391.2(ANKRD1): c.346-19_346-14delTTATTT deletion Benign rs58762441 GRCh38 Chromosome 10, 90918986: 90918991
21 ANKRD1 NM_014391.2(ANKRD1): c.346-19_346-14delTTATTT deletion Benign rs58762441 GRCh37 Chromosome 10, 92678743: 92678748
22 ANKRD1 NM_014391.2(ANKRD1): c.346-17_346-10delATTTATTT deletion Conflicting interpretations of pathogenicity rs397517250 GRCh38 Chromosome 10, 90918982: 90918989
23 ANKRD1 NM_014391.2(ANKRD1): c.346-17_346-10delATTTATTT deletion Conflicting interpretations of pathogenicity rs397517250 GRCh37 Chromosome 10, 92678739: 92678746
24 ANKRD1 NM_014391.2(ANKRD1): c.148G> C (p.Ala50Pro) single nucleotide variant Benign rs28730751 GRCh38 Chromosome 10, 90920228: 90920228
25 ANKRD1 NM_014391.2(ANKRD1): c.148G> C (p.Ala50Pro) single nucleotide variant Benign rs28730751 GRCh37 Chromosome 10, 92679985: 92679985
26 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del24 deletion Benign/Likely benign rs751458325 GRCh38 Chromosome 10, 90918984: 90919007
27 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del24 deletion Benign/Likely benign rs751458325 GRCh37 Chromosome 10, 92678741: 92678764
28 ANKRD1 NM_014391.2(ANKRD1): c.-17A> G single nucleotide variant Conflicting interpretations of pathogenicity rs79341122 GRCh38 Chromosome 10, 90921044: 90921044
29 ANKRD1 NM_014391.2(ANKRD1): c.-17A> G single nucleotide variant Conflicting interpretations of pathogenicity rs79341122 GRCh37 Chromosome 10, 92680801: 92680801
30 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 GRCh37 Chromosome 10, 92675579: 92675579
31 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 GRCh38 Chromosome 10, 90915822: 90915822

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 RBP5 RDH10

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 ACADM ANKRD1

Sources for Total Anomalous Pulmonary Venous Return 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....