MCID: PRS054
MIFTS: 36

Persistent Truncus Arteriosus malady

Genetic diseases, Rare diseases categories

Summaries for Persistent Truncus Arteriosus

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Persistent truncus arteriosus (or Truncus arteriosus), also known as Common arterial trunk, is a rare... more...

MalaCards: Persistent Truncus Arteriosus is related to ventricular septal defect and tricuspid atresia. An important gene associated with Persistent Truncus Arteriosus is NKX2-6 (NK2 homeobox 6), and among its related pathways is Heart Development. Affiliated tissues include heart, and related mouse phenotypes are respiratory system and embryogenesis.

Description from OMIM:48 217095

Aliases & Classifications for Persistent Truncus Arteriosus

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44NIH Rare Diseases, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

persistent truncus arteriosus 44 48


Related Diseases for Persistent Truncus Arteriosus

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18GeneCards, 19GeneDecks
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Diseases related to Persistent Truncus Arteriosus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect30.3GDF1, TBX1
2tricuspid atresia10.6
3congenital heart disease10.4
4cardiac tamponade10.3
5polydactyly10.3
6patent foramen ovale10.3
7orbital cyst10.3
8endocarditis10.3
9infective endocarditis10.3
10aortic arch interruption10.3
11aneurysm10.3
12absence of the pulmonary artery10.3
13right aortic arch10.3
14velocardiofacial syndrome10.0CTHM, TBX1
15digeorge syndrome10.0TBX1, CTHM
16tetralogy of fallot10.0GDF1, GATA6
17conotruncal heart malformations9.9NKX2-6, TBX1, GATA6, GDF1

Graphical network of diseases related to Persistent Truncus Arteriosus:



Diseases related to persistent truncus arteriosus

Symptoms for Persistent Truncus Arteriosus

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48OMIM
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Clinical features from OMIM:

217095

Drugs & Therapeutics for Persistent Truncus Arteriosus

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Persistent Truncus Arteriosus

Drug clinical trials:

Search ClinicalTrials for Persistent Truncus Arteriosus

Search NIH Clinical Center for Persistent Truncus Arteriosus

Search CenterWatch for Persistent Truncus Arteriosus

Genetic Tests for Persistent Truncus Arteriosus

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Anatomical Context for Persistent Truncus Arteriosus

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Sources:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Persistent Truncus Arteriosus:

34
Heart

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Persistent Truncus Arteriosus:
id TissueAnatomical CompartmentCell Relevance
1 Neural CrestCardiac Neural CrestCardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
2 Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
3 HeartOutflow TractNeural Crest Outflow Tract Cells Potential therapeutic candidate, affected by disease
4 HeartAorticopulmonary Septum  Affected by disease
5 HeartOutflow Tract Cushion  Affected by disease

Animal Models for Persistent Truncus Arteriosus or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Persistent Truncus Arteriosus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3GATA6, TBX1, NKX2-6, GDF1
2MP:00053808.3GDF1, NKX2-6, TBX1, GATA6
3MP:00028738.2GATA6, TBX1, NKX2-6, GDF1
4MP:00053858.2GDF1, NKX2-6, TBX1, GATA6
5MP:00107688.2GATA6, TBX1, NKX2-6, GDF1
6MP:00053848.1GATA6, TBX1, NKX2-6, GDF1
7MP:00053787.9GDF1, NKX2-6, TBX1, GATA6

Publications for Persistent Truncus Arteriosus

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53PubMed
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Articles related to Persistent Truncus Arteriosus:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
Persistent truncus arteriosus with double aortic arch and mitral stenosis. (23143310)
2013
2
Mid-term results after correction of type I and type II persistent truncus arteriosus in older patients. (22458281)
2012
3
Long-term follow-up of persistent truncus arteriosus: Kuwait experience. (22205122)
2012
4
A unique association with persistent truncus arteriosus and partial midline chest wall defect. (22608911)
2012
5
Staged biventricular repair for persistent truncus arteriosus with aortic arch obstruction following bilateral pulmonary artery banding. (21047826)
2011
6
Newborn with persistent truncus arteriosus and interrupted aortic arch demonstrating reverse left subclavian artery flow. (20957476)
2010
7
Long-term results after correction of persistent truncus arteriosus in 83 patients. (20137966)
2010
8
Persistent truncus arteriosus with intact ventricular septum diagnosed by echocardiography. (19951618)
2009
9
Cardiovascular flashlight. Persistent truncus arteriosus: a rare finding in adults. (19224931)
2009
10
Pulmonary atresia or persistent truncus arteriosus: is it important to make the distinction and how do we do it? (18703785)
2008
11
Persistent truncus arteriosus in a cat. (17689468)
2007
12
Persistent truncus arteriosus with double aortic arch. (16565901)
2006
13
Persistent truncus arteriosus and patent foramen ovale in a Simmentaler x Braunvieh calf. (12665146)
2003
14
Persistent truncus arteriosus with absence of right pulmonary artery. (12695462)
2003
15
Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. (11688556)
2001
16
Persistent truncus arteriosus in monozygotic twins: case report and literature review. (9934979)
1999
17
Factors associated with outcomes of persistent truncus arteriosus. (10440171)
1999
18
Persistent truncus arteriosus operated during infancy: long-term follow-up. (8047491)
1994
19
Persistent truncus arteriosus--an autopsy study of 16 cases. (1468825)
1992
20
Reduced L-type calcium current in the embryonic chick heart with persistent truncus arteriosus. (1693103)
1990
21
Pathogenesis of persistent truncus arteriosus induced by nimustine hydrochloride in chick embryos. (2727936)
1989
22
Fatal infective endocarditis in a young adult with persistent truncus arteriosus and a bicuspid truncal valve. (3751940)
1986
23
Two-dimensional echocardiographic classification of persistent truncus arteriosus. (6672261)
1983
24
Persistent truncus arteriosus in a lamb. (7091859)
1982
25
Two-dimensional echocardiographic evaluation of persistent truncus arteriosus. (7148716)
1982
26
Tricuspid atresia with persistent truncus arteriosus. (7471873)
1981
27
Respiratory distress due to bronchial compression in persistent truncus arteriosus. (7353426)
1980
28
Surgical repair of persistent truncus arteriosus in infancy. (6154330)
1980
29
Surgical treatment of persistent truncus arteriosus in the first year of life. (718769)
1978
30
Persistent truncus arteriosus. A study of 66 autopsy cases with special reference to definition and morphogenesis. (910720)
1977
31
Stenotic semilunar valve in persistent truncus arteriosus. (1248273)
1976
32
Banding of the pulmonary trunk in persistent truncus arteriosus. Rapid subsequent development of inadequate pulmonary blood flow. (4746353)
1973
33
The development of isolated ventricular septal defect, persistent truncus arteriosus, A-V canal malformation, and transposition complexes. (4591015)
1972
34
Truncal valve abnormalities in infants with persistent truncus arteriosus. A clinicopathologic study. (4257898)
1972
35
Persistent truncus arteriosus in a newborn pig. (4672615)
1972
36
Correction of persistent truncus arteriosus. (5101261)
1971
37
Malposition of pulmonary arteries (crossed pulmonary arteries) in persistent truncus arteriosus. (5489689)
1970
38
Persistent truncus arteriosus. A radiographic and angiocardiographic study. (4243525)
1969
39
Phonocardiographic findings in persistent truncus arteriosus. (5718989)
1968
40
The roentgenologic findings and approach to persistent truncus arteriosus in infancy. (4234827)
1968
41
Persistent truncus arteriosus. An electrovectorcardiographic study in 14 infants. (4233068)
1968
42
Angiocardiographic differentiation between Fallot's pulmonary atresia and type IV persistent truncus arteriosus. (6025200)
1967
43
The diagnosis of persistent truncus arteriosus. (5905957)
1966
44
Persistent truncus arteriosus in a 43 year old man. (5900345)
1966
45
PERSISTENT TRUNCUS ARTERIOSUS COMMUNIS. REVIEW OF THE LITERATURE AND PRESENTATION OF 49 CASES OF TRUE TRUNCUS ARTERIOSUS AND 18 EXAMPLES OF RELATED CONDITIONS. (14294893)
1964
46
PERSISTENT TRUNCUS ARTERIOSUS. A CLINICAL, HEMODYNAMIC, AND AUTOPSY STUDY OF NINETEEN CASES. (14082918)
1963
47
Persistent truncus arteriosus; an unusual type of congenital heart disease. (13485914)
1957
48
Persistent truncus arteriosus; report of two cases with right aortic arch. (13080168)
1953
49
Persistent truncus arteriosus; a clinicopathologic study. (15432396)
1950
50
Persistent truncus arteriosus; a classification according to anatomic types. (18141293)
1949

Variations for Persistent Truncus Arteriosus

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Persistent Truncus Arteriosus:

65
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675

Clinvar genetic disease variations for Persistent Truncus Arteriosus:

1
id Gene Name Type Significance SNP ID Assembly Location
1NKX2-6NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs)insertionPathogenicGRCh37Chr 8, 23560416: 23560417

Expression for genes affiliated with Persistent Truncus Arteriosus

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Persistent Truncus Arteriosus

Search GEO for disease gene expression data for Persistent Truncus Arteriosus.

Pathways for genes affiliated with Persistent Truncus Arteriosus

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Persistent Truncus Arteriosus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GATA6, TBX1

Compounds for genes affiliated with Persistent Truncus Arteriosus

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GO Terms for genes affiliated with Persistent Truncus Arteriosus

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17Gene Ontology
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Biological processes related to Persistent Truncus Arteriosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic processGO:0430669.5GATA6, NKX2-6
2outflow tract septum morphogenesisGO:0031489.4GATA6, TBX1
3pharyngeal system developmentGO:0600379.4TBX1, NKX2-6
4positive regulation of cell proliferationGO:0082849.2TBX1, NKX2-6

Molecular functions related to Persistent Truncus Arteriosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.0GATA6, TBX1, NKX2-6

Products for genes affiliated with Persistent Truncus Arteriosus

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Sources for Persistent Truncus Arteriosus

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet