MCID: DXT002
MIFTS: 43

Dextrocardia with Situs Inversus

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dextrocardia with Situs Inversus

MalaCards integrated aliases for Dextrocardia with Situs Inversus:

Name: Dextrocardia with Situs Inversus 20
Situs Inversus Totalis 20 58 29 6
Complete Situs Inversus Viscerum 58
Complete Situs Inversus 58
Situs Inversus 58

Characteristics:

Orphanet epidemiological data:

58
situs inversus totalis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q89.3
UMLS via Orphanet 72 C0037221
Orphanet 58 ORPHA101063

Summaries for Dextrocardia with Situs Inversus

GARD : 20 Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.

MalaCards based summary : Dextrocardia with Situs Inversus, also known as situs inversus totalis, is related to heterotaxy and kartagener syndrome. An important gene associated with Dextrocardia with Situs Inversus is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting). The drugs Nitric Oxide and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, colon and liver, and related phenotypes are embryo and growth/size/body region

Related Diseases for Dextrocardia with Situs Inversus

Diseases related to Dextrocardia with Situs Inversus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 544)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 31.6 PKD1L1 NODAL MMP21 CFAP53
2 kartagener syndrome 31.4 PKD1L1 MNS1 DNAH9 CFAP53 CCDC103
3 dextrocardia 31.3 NODAL HES7 CFAP53
4 right atrial isomerism 31.1 NODAL DNAH9 CITED2
5 dextro-looped transposition of the great arteries 30.8 PKD1L1 NODAL
6 situs inversus 30.7 MNS1 DNAH9 CFAP53 CFAP52 CCDC103
7 visceral heterotaxy 30.0 PKD1L1 NODAL NME7 MNS1 MMP21 DNAH9
8 heart septal defect 29.6 NODAL CITED2
9 primary ciliary dyskinesia 27.8 PKD1L1 NODAL NME7 MNS1 MMP21 DNAH9
10 ciliary dyskinesia, primary, 1 11.7
11 retinitis pigmentosa 82 with or without situs inversus 11.7
12 ciliary dyskinesia, primary, 3 11.7
13 ciliary dyskinesia, primary, 9 11.7
14 ciliary dyskinesia, primary, 7 11.7
15 ciliary dyskinesia, primary, 28 11.7
16 ciliary dyskinesia, primary, 5 11.7
17 ciliary dyskinesia, primary, 18 11.7
18 ciliary dyskinesia, primary, 23 11.7
19 ciliary dyskinesia, primary, 20 11.6
20 ciliary dyskinesia, primary, 40 11.6
21 ciliary dyskinesia, primary, 10 11.6
22 ciliary dyskinesia, primary, 16 11.6
23 ciliary dyskinesia, primary, 17 11.6
24 ciliary dyskinesia, primary, 19 11.6
25 ciliary dyskinesia, primary, 25 11.6
26 ciliary dyskinesia, primary, 26 11.6
27 ciliary dyskinesia, primary, 27 11.6
28 ciliary dyskinesia, primary, 35 11.6
29 ciliary dyskinesia, primary, 29 11.6
30 agnathia-otocephaly complex 11.6
31 ciliary dyskinesia, primary, 2 11.6
32 ciliary dyskinesia, primary, 11 11.6
33 ciliary dyskinesia, primary, 12 11.6
34 ciliary dyskinesia, primary, 13 11.6
35 ciliary dyskinesia, primary, 14 11.6
36 ciliary dyskinesia, primary, 15 11.6
37 ciliary dyskinesia, primary, 21 11.6
38 ciliary dyskinesia, primary, 22 11.6
39 ciliary dyskinesia, primary, 30 11.6
40 ciliary dyskinesia, primary, 38 11.6
41 ciliary dyskinesia, primary, 39 11.6
42 ciliary dyskinesia, primary, 43 11.6
43 ciliary dyskinesia, primary, 44 11.6
44 heterotaxy, visceral, 1, x-linked 11.5
45 ciliary dyskinesia, primary, 36, x-linked 11.5
46 ciliary dyskinesia, primary, 24 11.5
47 ciliary dyskinesia, primary, 37 11.5
48 hypoglossia with situs inversus 11.5
49 ciliary dyskinesia, primary, 4 11.5
50 situs inversus totalis with cystic dysplasia of kidneys and pancreas 11.4

Graphical network of the top 20 diseases related to Dextrocardia with Situs Inversus:



Diseases related to Dextrocardia with Situs Inversus

Symptoms & Phenotypes for Dextrocardia with Situs Inversus

MGI Mouse Phenotypes related to Dextrocardia with Situs Inversus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 ANKS3 CFAP53 CITED2 HES7 NME7 NODAL
2 growth/size/body region MP:0005378 9.61 ANKS3 CFAP53 CITED2 HES7 MMP21 MNS1
3 respiratory system MP:0005388 9.23 ANKS3 CFAP53 CITED2 MMP21 MNS1 NME7

Drugs & Therapeutics for Dextrocardia with Situs Inversus

Drugs for Dextrocardia with Situs Inversus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2 Respiratory System Agents Phase 3
3 Protective Agents Phase 3
4 Anti-Asthmatic Agents Phase 3
5 Antioxidants Phase 3
6 Neurotransmitter Agents Phase 3
7 Vasodilator Agents Phase 3
8 Bronchodilator Agents Phase 3
9 Endothelium-Dependent Relaxing Factors Phase 3
10
Mechlorethamine Approved, Investigational 51-75-2 4033
11 3-Iodobenzylguanidine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial of Nitric Oxide Administration During Cardiopulmonary Bypass in Infants Undergoing Arterial Switch Operation for Repair of Transposition of the Great Arteries Recruiting NCT03661385 Phase 3 Nitric Oxide
2 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Unknown status NCT03469843
3 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
4 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
5 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
6 A Retrospective Comparison of the Efficacy and Safety of Celsior® in Pediatric Cardiac Surgery for Transposition of the Great Vessels Recruiting NCT04616222 CELSIOR® group;Saint-Thomas group
7 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas

Search NIH Clinical Center for Dextrocardia with Situs Inversus

Genetic Tests for Dextrocardia with Situs Inversus

Genetic tests related to Dextrocardia with Situs Inversus:

# Genetic test Affiliating Genes
1 Situs Inversus Totalis 29

Anatomical Context for Dextrocardia with Situs Inversus

MalaCards organs/tissues related to Dextrocardia with Situs Inversus:

40
Heart, Colon, Liver, Lung, Pancreas, Lymph Node, Appendix

Publications for Dextrocardia with Situs Inversus

Articles related to Dextrocardia with Situs Inversus:

(show top 50) (show all 887)
# Title Authors PMID Year
1
A Huge Ovarian Mucinous Cystadenoma in a 15-Year-Old Girl with Situs Inversus Totalis: Report of a Rare Case. 61
32688052 2021
2
Successful removal of multiple bile duct stones using a papillary large balloon dilation in a very elderly woman with situs inversus totalis. 61
32772241 2021
3
Successful Catheter Ablation for Multiple Atrial Arrhythmias in a Patient with Situs Inversus Totalis. 61
33028769 2021
4
Upgrading from a Dual-chamber Pacemaker to a Cardiac Resynchronization Therapy Defibrillator in Situs Inversus Totalis with Dextrocardia Following Mitral Valve Replacement and Tricuspid Annuloplasty Using a Left-sided Approach. 61
33520351 2021
5
Total minimally invasive McKeown esophagectomy in an esophageal cancer patient with situs inversus totalis: A case report. 61
33155374 2021
6
Routine pre-employment echocardiography assessment in young adults: cost and benefits. 61
33409841 2021
7
A 2-Year-Old Boy With Hypoxemia, Pulmonary Hypertension, and Digital Clubbing. 61
33422240 2021
8
Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia. 61
32447765 2021
9
Performing Endoscopic Retrograde Cholagiopancreatpgraphy and Endoscopic Ultrasound for Management of Malignant Bile Duct Obstruction in a Patient With a Situs Inversus Totalis. 61
33324708 2020
10
Transverse colon cancer with obstruction in a patient with situs inversus totalis: A case report and review of literature. 61
32994114 2020
11
Operative Challenges with Minimally Invasive McKeown Esophagostomy with Two-Field Lymphadenectomy in a Case of Situs Inversus Totalis with Carcinoma Esophagus: A Case Report with Review of the Literature. 61
33299283 2020
12
Laparoendoscopic rendezvous procedure in a patient with situs inversus totalis: A case report and review of the literature. 61
33363786 2020
13
Catheter ablation of the atrioventricular node slow pathway sans fluoroscopy in a patient with situs inversus totalis. 61
33365251 2020
14
Minimally invasive dual-valve repair in situs inversus totalis: strategy for tricuspid valve. 61
33375817 2020
15
Vallecular cyst: a dangerous cause of failure to thrive in infants. 61
33334753 2020
16
Assessment of Myocardial Viability Using Nuclear Medicine Imaging in Dextrocardia. 61
32887761 2020
17
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. 61
33139725 2020
18
Left atrial appendage closure in a patient with situs inversus totalis and interrupted inferior vena cava - A transhepatic approach. 61
33204625 2020
19
Unusual Coexistence In Situs Inversus Totalis; Right Arcus Aorta, Variant Left Azygos Lobe, and Aberrant Left Subclavian Artery. 61
32340770 2020
20
Robotic right colectomy for cancer with intracorporeal hand-sewn anastomosis in a patient with situs inversus totalis - a video vignette. 61
32495482 2020
21
Video-assisted minimally invasive aortic valve replacement through left anterior mini-thoracotomy in a patient with situs inversus totalis. 61
32584985 2020
22
Robotic cholecystectomy in situs inversus totalis. 61
32386727 2020
23
Minimally invasive esophagectomy with intrathoracic anastomosis in a situs inversus totalis patient. 61
33274044 2020
24
Atrial fibrillation and atrial flutter ablation using mirror image in a patient with dextrocardia with situs inversus. 61
33001046 2020
25
Half-turned truncal switch operation after single ventricle palliation in a patient with borderline left heart hypoplasia. 61
33036641 2020
26
An ST-Elevation Myocardial Infarction In Situs Inversus Totalis (DEXTROCARDIA). 61
32713619 2020
27
Successful endoscopic retrograde cholangiopancreatography and bilateral stenting in a patient with situs inversus totalis. 61
33067158 2020
28
Acute Type A Aortic Dissection in a Patient with Situs Inversus Totalis. 61
32919440 2020
29
Successful biliary cannulation using a novel rotatable sphincterotome in a patient with situs inversus totalis. 61
32131093 2020
30
Successful endovascular repair of aortic rupture caused by axillary intra-aortic balloon insertion for a Jehovah's Witness patient with situs inversus anomaly. 61
32652620 2020
31
Laparoscopic Cholecystectomy in a Patient with Situs Inversus Totalis: Port Placement and Dissection Techniques. 61
32886654 2020
32
Robotic-assisted total gastrectomy in a patient with gastric cancer associated with situs inversus totalis: With video. 61
32875706 2020
33
Ex vivo cardiovascular magnetic resonance diffusion weighted imaging in congenital heart disease, an insight into the microstructures of tetralogy of Fallot, biventricular and univentricular systemic right ventricle. 61
32951605 2020
34
Two types of lung cancer with situs inversus totalis: a case report and review of the literature. 61
33106071 2020
35
Laparoscopy-assisted resection of colorectal cancer with situs inversus totalis: A case report and literature review. 61
32994862 2020
36
Endoscopic submucosal dissection of early gastric cancer in a patient with situs inversus totalis. 61
32821864 2020
37
Laparoscopic sleeve gastrectomy in a patient with situs inversus totalis: A case report. 61
32982638 2020
38
Deceased donor liver transplantation in an adult recipient with situs inversus totalis: A case report of 10-year clinical sequences following primary and repeat transplantation. 61
32843599 2020
39
Pararenal aortic aneurysm in situs inversus totalis: open repair with right retroperitoneal approach. 61
32760489 2020
40
A detailed pathway and termination of thoracic duct in a Japanese female cadaver with situs inversus totalis. 61
32077000 2020
41
Endoscopic Retrograde Cholangiopancretography for bile duct stones with residual cystic duct stones in patients with situs inversus totalis. 61
32037056 2020
42
Roux-en-Y Gastric Bypass in Patient with Situs Inversus Totalis. 61
32212101 2020
43
Acute cholecystitis and residual choledocholithiasis in a situs inversus patient, successful laparoscopic approach and ERCP a case report from Ecuador. 61
32426127 2020
44
Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period. 61
32522973 2020
45
Living donor liver transplantation in situs inversus totalis with a patient-specific three-dimensional printed liver model. 61
32068328 2020
46
Gastrointestinal: Situs inversus totalis with esophageal cancer. 61
31770819 2020
47
ST-Elevation Myocardial Infarction in a Patient Having Dextrocardia with Situs Inversus. 61
32359913 2020
48
The first report of renal oncocytoma in a patient with situs inversus totalis. 61
31948815 2020
49
Successful Multi-vessel Percutaneous Coronary Intervention for Recent Myocardial Infarction in a Patient with Dextrocardia and Situs Inversus. 61
32506107 2020
50
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. 61
31835165 2020

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC103 NM_213607.3(CCDC103):c.558_559AG[7] (p.Ser190fs) Microsatellite Pathogenic 455029 rs746242380 17:42980013-42980014 17:44902645-44902646
2 PKD1L1 NM_138295.4(PKD1L1):c.6473+2_6473+3del Deletion Pathogenic 235796 rs528302390 7:47870812-47870813 7:47831214-47831215
3 PKD1L1 NM_138295.4(PKD1L1):c.5072G>C (p.Cys1691Ser) SNV Likely pathogenic 235198 rs886037834 7:47886558-47886558 7:47846960-47846960
4 MNS1 NM_018365.4(MNS1):c.407_410del (p.Glu136fs) Microsatellite Likely pathogenic 635005 rs1596264554 15:56739085-56739088 15:56446887-56446890
5 CFAP52 NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla) Indel Uncertain significance 641856 rs1597763121 17:9489208-9489208 17:9585891-9585891
6 CFAP52 NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser) SNV Uncertain significance 645178 rs1389914976 17:9511453-9511453 17:9608136-9608136
7 CFAP52 NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser) SNV Uncertain significance 565466 rs142289033 17:9538843-9538843 17:9635526-9635526
8 CFAP52 NM_145054.5(CFAP52):c.1492A>G (p.Met498Val) SNV Uncertain significance 573466 rs765338836 17:9541945-9541945 17:9638628-9638628
9 CFAP52 NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp) SNV Uncertain significance 574037 rs552119987 17:9545090-9545090 17:9641773-9641773
10 CFAP52 NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser) SNV Uncertain significance 581962 rs775063335 17:9538805-9538805 17:9635488-9635488
11 CFAP52 NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala) SNV Uncertain significance 582339 rs77840450 17:9538831-9538831 17:9635514-9635514
12 CFAP52 NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp) SNV Uncertain significance 841952 17:9497584-9497584 17:9594267-9594267
13 CFAP52 NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn) SNV Uncertain significance 861945 17:9515740-9515740 17:9612423-9612423
14 CFAP52 NM_145054.5(CFAP52):c.121T>C (p.Tyr41His) SNV Uncertain significance 942263 17:9489140-9489140 17:9585823-9585823
15 CFAP52 NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr) SNV Uncertain significance 962973 17:9497541-9497541 17:9594224-9594224
16 CFAP52 NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln) SNV Uncertain significance 969026 17:9497611-9497611 17:9594294-9594294
17 CFAP52 NM_145054.5(CFAP52):c.199G>A (p.Val67Ile) SNV Uncertain significance 544338 rs201479202 17:9489218-9489218 17:9585901-9585901
18 CFAP52 NM_145054.5(CFAP52):c.1752G>A (p.Val584=) SNV Uncertain significance 544337 rs1555545305 17:9546404-9546404 17:9643087-9643087
19 CFAP52 NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys) SNV Uncertain significance 841069 17:9546432-9546432 17:9643115-9643115
20 CFAP52 NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile) SNV Likely benign 707582 rs112783393 17:9546424-9546424 17:9643107-9643107
21 CFAP52 NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr) SNV Likely benign 791562 rs140641061 17:9545078-9545078 17:9641761-9641761
22 CFAP52 NM_145054.5(CFAP52):c.873C>T (p.Gly291=) SNV Likely benign 798153 rs762482958 17:9515644-9515644 17:9612327-9612327
23 CFAP52 NM_145054.5(CFAP52):c.458C>T (p.Ala153Val) SNV Likely benign 707153 rs77839011 17:9497560-9497560 17:9594243-9594243
24 CFAP52 NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp) SNV Likely benign 707233 rs139646620 17:9511470-9511470 17:9608153-9608153
25 CFAP52 NM_145054.5(CFAP52):c.1369C>T (p.Leu457=) SNV Benign 707357 rs140517505 17:9538770-9538770 17:9635453-9635453
26 CFAP52 NM_145054.5(CFAP52):c.1065T>C (p.Asp355=) SNV Benign 707484 rs57960962 17:9532028-9532028 17:9628711-9628711
27 CFAP52 NM_145054.5(CFAP52):c.1392G>T (p.Val464=) SNV Benign 707485 rs73975761 17:9538793-9538793 17:9635476-9635476
28 CFAP52 NM_145054.5(CFAP52):c.1692A>C (p.Gly564=) SNV Benign 707486 rs36018005 17:9546344-9546344 17:9643027-9643027
29 CFAP52 NM_145054.5(CFAP52):c.1026-3C>T SNV Benign 707576 rs75671790 17:9531986-9531986 17:9628669-9628669
30 CFAP52 NM_145054.5(CFAP52):c.213C>T (p.Ala71=) SNV Benign 772897 rs143579503 17:9489232-9489232 17:9585915-9585915

Expression for Dextrocardia with Situs Inversus

Search GEO for disease gene expression data for Dextrocardia with Situs Inversus.

Pathways for Dextrocardia with Situs Inversus

GO Terms for Dextrocardia with Situs Inversus

Cellular components related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.63 PKD1L1 DNAH9 CFAP53 CFAP52 CCDC103 ANKS3
2 axoneme GO:0005930 9.5 MNS1 DNAH9 CCDC103
3 outer dynein arm GO:0036157 9.26 DNAH9 CCDC103
4 motile cilium GO:0031514 9.26 MNS1 DNAH9 CFAP52 CCDC103
5 cilium GO:0005929 9.1 PKD1L1 DNAH9 CFAP53 CFAP52 CCDC103 ANKS3

Biological processes related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 hematopoietic progenitor cell differentiation GO:0002244 9.52 MMP21 CITED2
2 vasculature development GO:0001944 9.51 NODAL CITED2
3 heart looping GO:0001947 9.5 NODAL CITED2 CCDC103
4 embryonic placenta development GO:0001892 9.49 NODAL CITED2
5 positive regulation of cell-cell adhesion GO:0022409 9.48 NODAL CITED2
6 trophectodermal cell differentiation GO:0001829 9.46 NODAL CITED2
7 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.43 CFAP53 CCDC103
8 cilium movement GO:0003341 9.43 DNAH9 CFAP53 CCDC103
9 determination of heart left/right asymmetry GO:0061371 9.4 MMP21 CITED2
10 embryonic process involved in female pregnancy GO:0060136 9.37 NODAL CITED2
11 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.16 NODAL CITED2
12 left/right axis specification GO:0070986 9.13 PKD1L1 MNS1 CITED2
13 determination of left/right symmetry GO:0007368 9.02 NODAL MMP21 CITED2 CFAP53 CCDC103

Sources for Dextrocardia with Situs Inversus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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