TAPVR
MCID: TTL012
MIFTS: 42

Total Anomalous Pulmonary Venous Return 1 (TAPVR)

Categories: Genetic diseases, 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 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
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
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 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities and pulmonary venous return anomaly. 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 drug Mechlorethamine has been mentioned in the context of this disorder. Affiliated tissues include heart, lung 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

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

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational 51-75-2 4033

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 National Congenital Heart Disease Audit Recruiting NCT02303535
2 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 29

Anatomical Context for Total Anomalous Pulmonary Venous Return 1

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

41
Heart, Lung, Liver

Publications for Total Anomalous Pulmonary Venous Return 1

Articles related to Total Anomalous Pulmonary Venous Return 1:

(show top 50) (show all 292)
# Title Authors Year
1
Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis. ( 29054305 )
2018
2
Intrapulmonary ectopic liver associated with scimitar syndrome. ( 28937381 )
2017
3
Case 5 / 2017 - Scimitar Syndrome and Pulmonary Sequestration in Natural Progression in a 68-Year-Old Woman. ( 28977062 )
2017
4
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
5
Transcatheter intervention in a child with scimitar syndrome. ( 27276087 )
2016
6
Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome. ( 25782127 )
2015
7
A scimitar syndrome variant: anomalous systemic arterial supply to the right lung with normal pulmonary venous return. ( 25555965 )
2015
8
Uncommon variants of the scimitar syndrome in two siblings. ( 25684890 )
2015
9
Adult Scimitar Syndrome: A Surgical Approach. ( 25800540 )
2015
10
Scimitar syndrome with absent right pulmonary artery and severe pulmonary hypertension treated with coil occlusion of aortopulmonary collaterals in a term neonate. ( 25716044 )
2015
11
Scimitar syndrome and pregnancy, complicated with severe preeclampsia. ( 24549272 )
2014
12
Two Cases of Scimitar Syndrome Associated with Multiple Congenital Skeletal Anomalies and Lacking Abnormalities by Genomic Microarray Analysis. ( 24945981 )
2014
13
Scimitar syndrome in pregnancy. ( 24963192 )
2014
14
Scimitar syndrome associated with gallbladder duplication. ( 24560746 )
2014
15
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
16
Case 6 / 2014 - Five-year Old Child with Scimitar Syndrome and Pulmonary Sequestration of Right Lower Lobe. ( 25352512 )
2014
17
Surgery for scimitar syndrome: the Melbourne experience. ( 25288102 )
2014
18
Abnormal location of umbilical venous catheter due to Scimitar syndrome. ( 25298705 )
2014
19
A new surgical approach to scimitar syndrome. ( 24384200 )
2014
20
Scimitar syndrome: the curved Turkish sabre. ( 24725718 )
2014
21
Congenitally palliated scimitar syndrome. ( 25341362 )
2014
22
Correction of the scimitar syndrome, a rare cardiac venous anomaly, leading to Budd-Chiari syndrome: a case report. ( 25113120 )
2014
23
Right thoracotomy, off-pump, scimitar syndrome repair in infants. ( 24585918 )
2014
24
A rare case of scimitar syndrome with horseshoe lung. ( 24591675 )
2014
25
Clinical spectrum of infantile scimitar syndrome: A tertiary center experience. ( 24701082 )
2014
26
Scimitar syndrome: the role of cardiac magnetic resonance. ( 25172074 )
2014
27
Multimodality imaging in an adult patient with scimitar syndrome. ( 24963450 )
2014
28
Persistent primitive hepatic venous plexus with Scimitar syndrome: description of a case and review of the literature. ( 25249237 )
2014
29
Scimitar Syndrome and H-type Tracheo-esophageal Fistula in a Newborn Infant. ( 24269859 )
2013
30
Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association. ( 23728126 )
2013
31
Scimitar syndrome associated with complete transposition of the great arteries. ( 23641008 )
2013
32
Natural history and clinical outcome of "uncorrected" scimitar syndrome patients: a multicenter study of the italian society of pediatric cardiology. ( 24776205 )
2013
33
Scimitar syndrome and anomalous origin of the circumflex artery from the main pulmonary artery in infancy: a case report. ( 23458266 )
2013
34
Partial anomalous pulmonary venous connection (including scimitar syndrome). ( 24413000 )
2013
35
Scimitar syndrome of atypical, rare drainage of venous vessel to the superior vena cava. A case report. ( 24505225 )
2013
36
An unusual presentation of scimitar syndrome in a military service member. ( 23984179 )
2013
37
Scimitar syndrome: A rare cause of dyspnea and chest pain. ( 24887831 )
2013
38
Total pulmonary artery atresia associated with abnormal pulmonary venous drainage as a rare presentation of scimitar syndrome. ( 24252991 )
2013
39
Respiratory outcome in children with scimitar syndrome. ( 22985724 )
2013
40
Scimitar syndrome in an adult with atrial septal defect and severe pulmonary hypertension. ( 23981646 )
2013
41
Hypoplastic left ventricle and scimitar syndrome. ( 24296195 )
2013
42
Scimitar syndrome. ( 24131547 )
2013
43
Natural history and clinical outcome of "uncorrected" scimitar syndrome patients: a multicenter study of the italian society of pediatric cardiology. ( 23721939 )
2013
44
Three-Dimensional Echocardiography Images Showing Anomalous Pulmonary Venous Return in an Adult with Scimitar Syndrome. ( 24134474 )
2013
45
Mediastinal lung herniation in an adult patient with Scimitar syndrome. ( 23423965 )
2013
46
Anomalous connection of the scimitar vein to the left atrium : An unusual type of scimitar syndrome. ( 23412552 )
2013
47
Right-sided scimitar syndrome in a patient with a single aortic trunk and coronary-cameral venous fistula. ( 23237842 )
2013
48
Outcome predictors and implications for management of scimitar syndrome. ( 23622914 )
2013
49
"Double whammy": anomalous pulmonary and systemic venous drainage in a patient with scimitar syndrome. ( 23987117 )
2013
50
Unanticipated stenosis of the systemic arterial supply in scimitar syndrome. ( 23184913 )
2013

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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 GRCh37 Chromosome 10, 92679983: 92679983
2 ANKRD1 NM_014391.2(ANKRD1): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs147484763 GRCh38 Chromosome 10, 90920226: 90920226
3 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh37 Chromosome 10, 92678743: 92678744
4 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh38 Chromosome 10, 90918986: 90918987
5 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs794728970 GRCh37 Chromosome 10, 92678748: 92678749
6 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs794728970 GRCh38 Chromosome 10, 90918991: 90918992
7 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del18 deletion Conflicting interpretations of pathogenicity rs72003210 GRCh37 Chromosome 10, 92678741: 92678758
8 ANKRD1 NM_014391.2(ANKRD1): c.346-29_346-12del18 deletion Conflicting interpretations of pathogenicity rs72003210 GRCh38 Chromosome 10, 90918984: 90919001
9 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del24 deletion Benign/Likely benign rs751458325 GRCh38 Chromosome 10, 90918984: 90919007
10 ANKRD1 NM_014391.2(ANKRD1): c.346-35_346-12del24 deletion Benign/Likely benign rs751458325 GRCh37 Chromosome 10, 92678741: 92678764
11 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 GRCh38 Chromosome 10, 90915822: 90915822
12 ANKRD1 NM_014391.2(ANKRD1): c.710A> G (p.His237Arg) single nucleotide variant Uncertain significance rs145326465 GRCh37 Chromosome 10, 92675579: 92675579
13 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14insA insertion Benign rs60700562 GRCh38 Chromosome 10, 90918986: 90918987
14 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14insA insertion Benign rs60700562 GRCh37 Chromosome 10, 92678743: 92678744
15 ANKRD1 NM_014391.2(ANKRD1): c.346-16_346-15insATA insertion Likely benign GRCh38 Chromosome 10, 90918987: 90918988
16 ANKRD1 NM_014391.2(ANKRD1): c.346-16_346-15insATA insertion Likely benign GRCh37 Chromosome 10, 92678744: 92678745

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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