ACAPA
MCID: ANM074
MIFTS: 20

Anomalous Origin of Coronary Artery from the Pulmonary Artery (ACAPA)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Anomalous Origin of Coronary Artery from the Pulmonary Artery

MalaCards integrated aliases for Anomalous Origin of Coronary Artery from the Pulmonary Artery:

Name: Anomalous Origin of Coronary Artery from the Pulmonary Artery 58 6
Acapa 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q24.5
Orphanet 58 ORPHA541507

Summaries for Anomalous Origin of Coronary Artery from the Pulmonary Artery

MalaCards based summary : Anomalous Origin of Coronary Artery from the Pulmonary Artery, also known as acapa, is related to ciliary dyskinesia, primary, 8 and ciliary dyskinesia, primary, 4. An important gene associated with Anomalous Origin of Coronary Artery from the Pulmonary Artery is CCDC65 (Coiled-Coil Domain Containing 65). Affiliated tissues include heart, and related phenotype is Increased transcriptional activity.

Related Diseases for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Diseases related to Anomalous Origin of Coronary Artery from the Pulmonary Artery via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 8 9.5 DNAH5 CCDC65
2 ciliary dyskinesia, primary, 4 9.5 DNAH5 CCDC65
3 situs inversus 9.4 DNAH5 CCDC65
4 kartagener syndrome 9.4 DNAH5 CCDC65
5 meckel syndrome, type 1 9.4 DYNC2H1 DNAH5
6 joubert syndrome 1 9.2 DYNC2H1 DNAH5
7 visceral heterotaxy 9.1 DYNC2H1 DNAH5 CCDC65
8 primary ciliary dyskinesia 9.1 DYNC2H1 DNAH5 CCDC65

Graphical network of the top 20 diseases related to Anomalous Origin of Coronary Artery from the Pulmonary Artery:



Diseases related to Anomalous Origin of Coronary Artery from the Pulmonary Artery

Symptoms & Phenotypes for Anomalous Origin of Coronary Artery from the Pulmonary Artery

GenomeRNAi Phenotypes related to Anomalous Origin of Coronary Artery from the Pulmonary Artery according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transcriptional activity GR00354-A 8.62 CCDC65 DNAH5

Drugs & Therapeutics for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Assessment of Coronary MR Angiography Vs Coronary Multislice CT After Coronary Artery Reimplantation in Children and Young Adults. Unknown status NCT02542345

Search NIH Clinical Center for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Genetic Tests for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Anatomical Context for Anomalous Origin of Coronary Artery from the Pulmonary Artery

MalaCards organs/tissues related to Anomalous Origin of Coronary Artery from the Pulmonary Artery:

40
Heart

Publications for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Articles related to Anomalous Origin of Coronary Artery from the Pulmonary Artery:

(show all 11)
# Title Authors PMID Year
1
Factors Associated With Adverse Outcomes After Repair of Anomalous Coronary From Pulmonary Artery. 61
31152733 2019
2
Aortic Implantation for Anomalous Connection of the Coronary Artery to the Pulmonary Artery in Older Children and Adults. 61
26859335 2017
3
Repair of anomalous coronary artery from the pulmonary artery: A-signal center 20-year experience. 61
27565839 2016
4
Outcomes following repair of anomalous coronary artery from the pulmonary artery in infants: results from a procedure-based national database. 61
26357546 2015
5
Defective lysosome maturation and Legionella pneumophila replication in Dictyostelium cells mutant for the Arf GAP ACAP-A. 61
25189617 2014
6
Surgical strategies for anomalous origin of coronary artery from pulmonary artery in adults. 61
24079879 2014
7
Focus on echocardiographic and Doppler analysis of coronary artery abnormal origin from the pulmonary trunk with mild myocardial dysfunction. 61
23347291 2013
8
Dictyostelium ACAP-A is an ArfGAP involved in cytokinesis, cell migration and actin cytoskeleton dynamics. 61
23264736 2013
9
Anomalous origin of right coronary artery from pulmonary artery. 61
22529614 2012
10
Surgical treatment of anomalous origin of coronary artery from the pulmonary artery. 61
18701026 2008
11
Anomalous coronary arteries of aortic origin. 61
11092113 2000

Variations for Anomalous Origin of Coronary Artery from the Pulmonary Artery

ClinVar genetic disease variations for Anomalous Origin of Coronary Artery from the Pulmonary Artery:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC65 NM_033124.5(CCDC65):c.494del (p.Glu165fs)deletion Pathogenic 474640 rs1555174708 12:49310776-49310776 12:48916993-48916993
2 DYNC2H1 NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)SNV Conflicting interpretations of pathogenicity 238270 rs189806840 11:103026168-103026168 11:103155439-103155439
3 DNAH5 NM_001369.2(DNAH5):c.10021C>G (p.Leu3341Val)SNV Uncertain significance 454724 rs751746139 5:13766165-13766165 5:13766056-13766056

Expression for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Search GEO for disease gene expression data for Anomalous Origin of Coronary Artery from the Pulmonary Artery.

Pathways for Anomalous Origin of Coronary Artery from the Pulmonary Artery

GO Terms for Anomalous Origin of Coronary Artery from the Pulmonary Artery

Cellular components related to Anomalous Origin of Coronary Artery from the Pulmonary Artery according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.58 DYNC2H1 DNAH5 CCDC65
2 cell projection GO:0042995 9.5 DYNC2H1 DNAH5 CCDC65
3 microtubule GO:0005874 9.43 DYNC2H1 DNAH5
4 motile cilium GO:0031514 9.37 DYNC2H1 CCDC65
5 cilium GO:0005929 9.33 DYNC2H1 DNAH5 CCDC65
6 dynein complex GO:0030286 9.26 DYNC2H1 DNAH5
7 axonemal dynein complex GO:0005858 8.96 DNAH5 CCDC65
8 axoneme GO:0005930 8.8 DYNC2H1 DNAH5 CCDC65

Biological processes related to Anomalous Origin of Coronary Artery from the Pulmonary Artery according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.26 DYNC2H1 DNAH5
2 microtubule-based movement GO:0007018 9.16 DYNC2H1 DNAH5
3 determination of left/right symmetry GO:0007368 8.96 DYNC2H1 DNAH5
4 cilium assembly GO:0060271 8.8 DYNC2H1 DNAH5 CCDC65

Molecular functions related to Anomalous Origin of Coronary Artery from the Pulmonary Artery according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.32 DYNC2H1 DNAH5
2 microtubule motor activity GO:0003777 9.26 DYNC2H1 DNAH5
3 dynein light intermediate chain binding GO:0051959 9.16 DYNC2H1 DNAH5
4 dynein intermediate chain binding GO:0045505 8.96 DYNC2H1 DNAH5
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DYNC2H1 DNAH5

Sources for Anomalous Origin of Coronary Artery from the Pulmonary Artery

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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