TAPVR
MCID: TTL012
MIFTS: 44

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 57 13
Scimitar Syndrome 57 12 76 59 44 15
Total Anomalous Pulmonary Venous Return 57 12 75 29 6
Congenital Total Pulmonary Venous Return Anomaly 59
Pulmonary Venous Return, Total Anomalous, Type 1 40
Epibronchial Right Pulmonary Vein Syndrome 59
Anomalous Pulmonary Venous Return; Apvr 57
Congenital Pulmonary Venolobar Syndrome 59
Anomalous Pulmonary Venous Return 57
Pulmonary Venolobar Syndrome 12
Hypogenetic Lung Syndrome 59
Scimitar Anomaly 57
Halasz Syndrome 59
Tapvr1 57
Tapvr 75
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:

OMIM 57 106700
Disease Ontology 12 DOID:4297
ICD10 33 Q26.2 Q26.8
ICD9CM 35 747.41
MeSH 44 D012587
SNOMED-CT 68 39905002
MESH via Orphanet 45 D012587
UMLS via Orphanet 74 C0036400
ICD10 via Orphanet 34 Q26.8 Q26.2
MedGen 42 C0036400
UMLS 73 C0036400

Summaries for Total Anomalous Pulmonary Venous Return 1

UniProtKB/Swiss-Prot : 75 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 atrial heart septal defect and tetralogy of fallot. 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, heart and liver, and related phenotypes are recurrent respiratory infections and pulmonary arterial hypertension

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 : 76 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 83)
# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 30.7 NKX2-6 GDF1 CRELD1
2 tetralogy of fallot 30.3 NKX2-6 GDF1 CRELD1
3 heart disease 30.1 NKX2-6 GDF1 CRELD1 ANKRD1
4 ventricular septal defect 29.9 NKX2-6 GDF1
5 patent ductus arteriosus 1 29.9 NKX2-6 GDF1 CRELD1
6 double outlet right ventricle 29.9 NKX2-6 GDF1 CRELD1
7 aortic valve disease 1 29.6 NKX2-6 CRELD1
8 congenital heart defects, multiple types, 6 11.6
9 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 11.6
10 lung agenesis, congenital heart defects, and thumb anomalies syndrome 11.4
11 manouvrier syndrome 11.4
12 meacham winn culler syndrome 11.4
13 perrault syndrome 1 11.1
14 pulmonary venous return anomaly 11.1
15 pulmonary hypertension 10.5
16 cor triatriatum 10.5
17 turner syndrome 10.3
18 mitral valve stenosis 10.3
19 aortic coarctation 10.3
20 cor triatriatum sinister 10.3
21 transposition of the great arteries 10.3
22 esophageal varix 10.2
23 situs inversus 10.2
24 dextrocardia 10.2
25 heterotaxy 10.2
26 pulmonary valve stenosis 10.1 NKX2-6 CRELD1
27 pulmonary valve disease 10.1 NKX2-6 CRELD1
28 dextro-looped transposition of the great arteries 10.1 NKX2-6 GDF1
29 tricuspid valve stenosis 10.0 NKX2-6 CRELD1
30 ebstein anomaly 10.0 NKX2-6 GDF1
31 atrial standstill 1 10.0
32 pancreas, annular 10.0
33 smith-magenis syndrome 10.0
34 williams-beuren syndrome 10.0
35 right atrial isomerism 10.0
36 hypoplastic left heart syndrome 1 10.0
37 pulmonic stenosis 10.0
38 mayer-rokitansky-kuster-hauser syndrome 10.0
39 spondylocostal dysostosis 1, autosomal recessive 10.0
40 heterotaxy, visceral, 1, x-linked 10.0
41 hypoplastic left heart syndrome 10.0
42 anomalous left coronary artery from the pulmonary artery 10.0
43 thrombosis 10.0
44 pulmonary edema 10.0
45 portal vein thrombosis 10.0
46 synostosis 10.0
47 biliary atresia 10.0
48 tracheal stenosis 10.0
49 aortic aneurysm 10.0
50 aortic valve insufficiency 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

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

Human phenotypes related to Total Anomalous Pulmonary Venous Return 1:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 pulmonary arterial hypertension 32 HP:0002092
3 aplasia/hypoplasia of the nails 32 HP:0008386
4 total anomalous pulmonary venous return 32 HP:0005160
5 tapered distal phalanges of finger 32 occasional (7.5%) HP:0009884

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 ACADM ANKRD1 CORIN CRELD1 GDF1 NKX2-6

Drugs & Therapeutics for Total Anomalous Pulmonary Venous Return 1

Search Clinical Trials , 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 29

Anatomical Context for Total Anomalous Pulmonary Venous Return 1

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

41
Lung, Heart, Liver, Pancreas

Publications for Total Anomalous Pulmonary Venous Return 1

Articles related to Total Anomalous Pulmonary Venous Return 1:

(show top 50) (show all 350)
# Title Authors Year
1
Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis. ( 29054305 )
2018
2
Asymptomatic atresia of the anomalous pulmonary vein in a patient with scimitar syndrome presenting in childhood. ( 28847332 )
2018
3
Thoracoscopic treatment of left-to-right shunt in a child with scimitar syndrome. ( 28889820 )
2018
4
The natural history and surgical outcome of patients with scimitar syndrome: a multi-centre European study. ( 29029134 )
2018
5
A battle in the crusade to understand scimitar syndrome. ( 29136136 )
2018
6
Acute Type A Aortic Dissection with Iliac Malperfusion in a Patient with Scimitar Syndrome. ( 29279532 )
2018
7
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
8
Combined minimally invasive repair of the adult form of the scimitar syndrome and organic mitral regurgitation. ( 29415266 )
2018
9
Left circumflex coronary artery from the pulmonary artery in scimitar syndrome. ( 29541807 )
2018
10
Anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. ( 29550261 )
2018
11
Pericardial tunnel technique in the surgical management of the vertical form of scimitar syndrome. ( 29608668 )
2018
12
The pericardial tunnel technique might produce optimal morphological repair of the scimitar syndrome. ( 29788282 )
2018
13
The natural history and surgical outcome of patients with scimitar syndrome. ( 29800132 )
2018
14
Positional Oxygenation Changes in an Adult Patient With Scimitar Syndrome: A Case Report. ( 29894351 )
2018
15
An Unusual Neonatal Presentation of Scimitar Syndrome. ( 29930881 )
2018
16
A rare case of horseshoe lung with scimitar syndrome and persistent left superior vena cava. ( 29970781 )
2018
17
Meandering pulmonary veins mimicking scimitar syndrome. ( 29991371 )
2018
18
Multimodality imaging of scimitar syndrome in adults: A report of four cases. ( 30136740 )
2018
19
Scimitar syndrome associated with aberrant right subclavian artery, diaphragmatic hernia, and urinary anomalies - case report and review of the literature. ( 30173274 )
2018
20
Scimitar Syndrome with Partial Left Pulmonary Artery Sling in a Neonate. ( 30271095 )
2018
21
Intrapulmonary ectopic liver associated with scimitar syndrome. ( 28937381 )
2017
22
Case 5 / 2017 - Scimitar Syndrome and Pulmonary Sequestration in Natural Progression in a 68-Year-Old Woman. ( 28977062 )
2017
23
Scimitar Syndrome-Complex Surgical Revision 3 Decades After Repair. ( 28109385 )
2017
24
Clinics in diagnostic imaging (173). Scimitar syndrome with horseshoe lung. ( 28111692 )
2017
25
Retrocardiac lung lobe in a neonate with Scimitar syndrome. ( 28371509 )
2017
26
An alternative cardiopulmonary bypass strategy for intracaval baffle repair of scimitar syndrome. ( 28402418 )
2017
27
Transcatheter correction of Scimitar syndrome: occlusion of abnormal pulmonary venous drainage and vascular supply in an infant. ( 28506323 )
2017
28
Uncommon presentation of adult-form scimitar syndrome associated with single left pulmonary vein in a pregnant woman. ( 28512102 )
2017
29
Scimitar syndrome: Anaesthetic management for pulmonary resection of the unaffected lung. ( 28554711 )
2017
30
Uncommon Variant of Scimitar Syndrome. ( 28558923 )
2017
31
Infantile scimitar syndrome with unusual associations. ( 28674724 )
2017
32
Scimitar Syndrome With an Absent Right Upper Lung Lobe. ( 28755737 )
2017
33
Lugones' technique for correction of Scimitar syndrome. ( 28880468 )
2017
34
Modified In Situ Pericardial Rerouting Technique for Scimitar Syndrome Repair. ( 29187109 )
2017
35
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
36
Transcatheter intervention in a child with scimitar syndrome. ( 27276087 )
2016
37
Scimitar Syndrome. ( 25941106 )
2016
38
Variants of the scimitar syndrome. ( 26374351 )
2016
39
Minimal access mitral valve repair in a patient with a right pneumonectomy for Scimitar syndrome. ( 26979655 )
2016
40
Adult Scimitar Syndrome with Severe Pulmonary Hypertension, Treated by Occlusion of Aortopulmonary Collateral. ( 27144801 )
2016
41
Scimitar syndrome: Surgical approach to an unusual anatomy of the scimitar vein. ( 27212856 )
2016
42
Scimitar syndrome with atrial fibrillation: Repair in an adult. ( 27378737 )
2016
43
Scimitar Syndrome Repair in Adults: Intermediate-Term Results Using an Extracardiac Conduit. ( 27424466 )
2016
44
A novel surgical procedure for scimitar syndrome: scimitar vein with right atrium and inferior vena cava wall flap. ( 27572997 )
2016
45
Right Thoracotomy to Repair Scimitar Syndrome and an Accessory Hemidiaphragm. ( 27645971 )
2016
46
Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome. ( 25782127 )
2015
47
A scimitar syndrome variant: anomalous systemic arterial supply to the right lung with normal pulmonary venous return. ( 25555965 )
2015
48
Uncommon variants of the scimitar syndrome in two siblings. ( 25684890 )
2015
49
Adult Scimitar Syndrome: A Surgical Approach. ( 25800540 )
2015
50
Scimitar syndrome with absent right pulmonary artery and severe pulmonary hypertension treated with coil occlusion of aortopulmonary collaterals in a term neonate. ( 25716044 )
2015

Variations for Total Anomalous Pulmonary Venous Return 1

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

75
# 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 30)
# 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 GRCh38 Chromosome 10, 90918987: 90918988
4 ANKRD1 NM_014391.2(ANKRD1): c.346-16_346-15insATA insertion Likely benign GRCh37 Chromosome 10, 92678744: 92678745
5 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 GRCh37 Chromosome 10, 92675579: 92675579
6 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 GRCh38 Chromosome 10, 90915822: 90915822
7 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del24 deletion Benign/Likely benign rs751458325 GRCh38 Chromosome 10, 90918984: 90919007
8 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del24 deletion Benign/Likely benign rs751458325 GRCh37 Chromosome 10, 92678741: 92678764
9 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del18 deletion Conflicting interpretations of pathogenicity rs72003210 GRCh38 Chromosome 10, 90918984: 90919001
10 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del18 deletion Conflicting interpretations of pathogenicity rs72003210 GRCh37 Chromosome 10, 92678741: 92678758
11 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs794728970 GRCh38 Chromosome 10, 90918991: 90918992
12 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs794728970 GRCh37 Chromosome 10, 92678748: 92678749
13 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh38 Chromosome 10, 90918986: 90918987
14 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh37 Chromosome 10, 92678743: 92678744
15 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 GRCh37 Chromosome 10, 92679983: 92679983
16 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 GRCh38 Chromosome 10, 90920226: 90920226
17 ANKRD1 NM_014391.2(ANKRD1): c.-17A> G single nucleotide variant Conflicting interpretations of pathogenicity rs79341122 GRCh38 Chromosome 10, 90921044: 90921044
18 ANKRD1 NM_014391.2(ANKRD1): c.-17A> G single nucleotide variant Conflicting interpretations of pathogenicity rs79341122 GRCh37 Chromosome 10, 92680801: 92680801
19 ANKRD1 NM_014391.2(ANKRD1): c.208-16C> T single nucleotide variant Benign rs79793575 GRCh38 Chromosome 10, 90919284: 90919284
20 ANKRD1 NM_014391.2(ANKRD1): c.208-16C> T single nucleotide variant Benign rs79793575 GRCh37 Chromosome 10, 92679041: 92679041
21 ANKRD1 NM_014391.2(ANKRD1): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35550482 GRCh38 Chromosome 10, 90915565: 90915565
22 ANKRD1 NM_014391.2(ANKRD1): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35550482 GRCh37 Chromosome 10, 92675322: 92675322
23 ANKRD1 NM_014391.2(ANKRD1): c.652-10A> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517252 GRCh38 Chromosome 10, 90915890: 90915890
24 ANKRD1 NM_014391.2(ANKRD1): c.652-10A> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517252 GRCh37 Chromosome 10, 92675647: 92675647
25 ANKRD1 NM_014391.2(ANKRD1): c.346-19_346-14delTTATTT deletion Benign rs58762441 GRCh38 Chromosome 10, 90918986: 90918991
26 ANKRD1 NM_014391.2(ANKRD1): c.346-19_346-14delTTATTT deletion Benign rs58762441 GRCh37 Chromosome 10, 92678743: 92678748
27 ANKRD1 NM_014391.2(ANKRD1): c.346-17_346-10delATTTATTT deletion Conflicting interpretations of pathogenicity rs397517250 GRCh38 Chromosome 10, 90918982: 90918989
28 ANKRD1 NM_014391.2(ANKRD1): c.346-17_346-10delATTTATTT deletion Conflicting interpretations of pathogenicity rs397517250 GRCh37 Chromosome 10, 92678739: 92678746
29 ANKRD1 NM_014391.2(ANKRD1): c.148G> C (p.Ala50Pro) single nucleotide variant Benign rs28730751 GRCh38 Chromosome 10, 90920228: 90920228
30 ANKRD1 NM_014391.2(ANKRD1): c.148G> C (p.Ala50Pro) single nucleotide variant Benign rs28730751 GRCh37 Chromosome 10, 92679985: 92679985

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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