MCID: DXT002
MIFTS: 39

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 52
Situs Inversus Totalis 52 58
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

NIH Rare Diseases : 52 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 ciliary dyskinesia, primary, 1 and heterotaxy. An important gene associated with Dextrocardia with Situs Inversus is DNAH7 (Dynein Axonemal Heavy Chain 7). The drugs Nitric Oxide and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 536)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 33.2 DNAH9 DNAH7
2 heterotaxy 32.4 NODAL MMP21 CFAP53
3 right atrial isomerism 32.1 NODAL DNAH7 CITED2
4 kartagener syndrome 32.0 PKD1L1 DNAH9 DNAH7 CFAP53
5 situs inversus 31.2 DNAH9 DNAH7 CFAP53
6 dextrocardia 31.0 NODAL HES7 CFAP53
7 visceral heterotaxy 30.3 PKD1L1 NODAL NME7 MMP21 DNAH9 DNAH7
8 dextro-looped transposition of the great arteries 30.1 PKD1L1 NODAL
9 double outlet right ventricle 30.1 NODAL CITED2
10 heart septal defect 29.7 NODAL CITED2
11 primary ciliary dyskinesia 26.8 PKD1L1 NODAL NME7 MMP21 DNAH9 DNAH7
12 retinitis pigmentosa 82 with or without situs inversus 12.8
13 hypoglossia with situs inversus 12.7
14 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.6
15 aglossia and situs inversus 12.5
16 marfanoid habitus with situs inversus 12.5
17 jeune syndrome situs inversus 12.4
18 chondrodysplasia situs inversus imperforate anus polydactyly 12.4
19 ciliary dyskinesia, primary, 7 12.4
20 ciliary dyskinesia, primary, 40 12.3
21 ciliary dyskinesia, primary, 29 12.3
22 agnathia-otocephaly complex 12.3
23 ciliary dyskinesia, primary, 3 12.2
24 heterotaxy, visceral, 1, x-linked 12.2
25 ciliary dyskinesia, primary, 9 12.2
26 ciliary dyskinesia, primary, 5 12.2
27 ciliary dyskinesia, primary, 18 12.2
28 ciliary dyskinesia, primary, 23 12.2
29 ciliary dyskinesia, primary, 10 12.1
30 ciliary dyskinesia, primary, 16 12.1
31 ciliary dyskinesia, primary, 17 12.1
32 ciliary dyskinesia, primary, 19 12.1
33 ciliary dyskinesia, primary, 20 12.1
34 ciliary dyskinesia, primary, 25 12.1
35 ciliary dyskinesia, primary, 26 12.1
36 ciliary dyskinesia, primary, 27 12.1
37 ciliary dyskinesia, primary, 28 12.1
38 ciliary dyskinesia, primary, 35 12.1
39 ciliary dyskinesia, primary, 2 12.1
40 ciliary dyskinesia, primary, 11 12.1
41 ciliary dyskinesia, primary, 12 12.1
42 ciliary dyskinesia, primary, 13 12.1
43 ciliary dyskinesia, primary, 14 12.1
44 ciliary dyskinesia, primary, 15 12.1
45 ciliary dyskinesia, primary, 21 12.1
46 ciliary dyskinesia, primary, 22 12.1
47 ciliary dyskinesia, primary, 30 12.1
48 ciliary dyskinesia, primary, 38 12.1
49 ciliary dyskinesia, primary, 39 12.1
50 ciliary dyskinesia, primary, 43 12.1

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

GenomeRNAi Phenotypes related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.36 NODAL
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.36 CITED2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-129 9.36 NME7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 9.36 NODAL
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.36 CITED2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 9.36 NODAL
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 9.36 NME7
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.36 NME7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.36 CITED2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.36 NME7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.36 NME7

MGI Mouse Phenotypes related to Dextrocardia with Situs Inversus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.1 CFAP53 CITED2 MMP21 NME7 NODAL PKD1L1

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 Antioxidants Phase 3
4 Vasodilator Agents Phase 3
5 Anti-Asthmatic Agents Phase 3
6 Protective Agents Phase 3
7 Endothelium-Dependent Relaxing Factors Phase 3
8 Bronchodilator Agents Phase 3
9 Neurotransmitter Agents 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 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
4 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
5 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Completed NCT02389049
6 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
7 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
8 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
9 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
10 Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways Suspended NCT00807482

Search NIH Clinical Center for Dextrocardia with Situs Inversus

Genetic Tests for Dextrocardia with Situs Inversus

Anatomical Context for Dextrocardia with Situs Inversus

MalaCards organs/tissues related to Dextrocardia with Situs Inversus:

40
Heart, Liver, Lung, Testes, Colon, Kidney, Brain

Publications for Dextrocardia with Situs Inversus

Articles related to Dextrocardia with Situs Inversus:

(show top 50) (show all 839)
# Title Authors PMID Year
1
Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period. 61
32522973 2020
2
Acute cholecystitis and residual choledocholithiasis in a situs inversus patient, successful laparoscopic approach and ERCP a case report from Ecuador. 61
32426127 2020
3
Roux-en-Y Gastric Bypass in Patient with Situs Inversus Totalis. 61
32212101 2020
4
Endoscopic Retrograde Cholangiopancretography for bile duct stones with residual cystic duct stones in patients with situs inversus totalis. 61
32037056 2020
5
A detailed pathway and termination of thoracic duct in a Japanese female cadaver with situs inversus totalis. 61
32077000 2020
6
Robotic right colectomy for cancer with intracorporeal hand-sewn anastomosis in a patient with situs inversus totalis - a video vignette. 61
32495482 2020
7
Laparoscopic cholecystectomy in a patient with situs inversus totalis after videolaparoscopic sleeve-Case report. 61
32474376 2020
8
Living donor liver transplantation in situs inversus totalis with a patient-specific three-dimensional printed liver model. 61
32068328 2020
9
Robotic cholecystectomy in situs inversus totalis. 61
32386727 2020
10
Gastrointestinal: Situs inversus totalis with esophageal cancer. 61
31770819 2020
11
ST-Elevation Myocardial Infarction in a Patient Having Dextrocardia with Situs Inversus. 61
32359913 2020
12
Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia. 61
32447765 2020
13
The first report of renal oncocytoma in a patient with situs inversus totalis. 61
31948815 2020
14
Successful Multi-vessel Percutaneous Coronary Intervention for Recent Myocardial Infarction in a Patient with Dextrocardia and Situs Inversus. 61
32506107 2020
15
Unusual Coexistence In Situs Inversus Totalis; Right Arcus Aorta, Variant Left Azygos Lobe, and Aberrant Left Subclavian Artery. 61
32340770 2020
16
Successful biliary cannulation using a novel rotatable sphincterotome in a patient with situs inversus totalis. 61
32131093 2020
17
Comorbidities in situs inversus totalis: A hospital-based study. 61
31994846 2020
18
Left-right patterning in congenital heart disease beyond heterotaxy. 61
31999049 2020
19
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. 61
31835165 2020
20
Stress cardiomyopathy in dextrocardia with situs inversus and anomalous coronary arteries. 61
32131905 2020
21
Transseptal Approach for Mitral Valve Replacement in Dextrocardia with Situs Inversus Totalis: A Case Report and Review of the Literature. 61
32118539 2020
22
A unique indication for the senning procedure: Atrioventricular discordance with ventriculoarterial concordance. 61
31793037 2020
23
Intraoperative Transesophageal Echocardiography in a Rare Case of Dextrocardia, Situs Inversus Totalis, and Double-Outlet Right Ventricle. 61
31850907 2020
24
Using Materialise's interactive medical image control system to reconstruct a model of a patient with rectal cancer and situs inversus totalis: A case report. 61
32149064 2020
25
Management of a child with primary ciliary dyskinesia. 61
32128223 2020
26
Living donor hand-assisted laparoscopic nephrectomy in a healthy individual with situs inversus totalis: no need to turn down the donor. 61
31974263 2020
27
Hepatobiliary and Pancreatic: Common bile duct stones with situs inversus totalis. 61
31412431 2020
28
Idiopathic thrombocytopenic purpura in a patient with situs inversus totalis: case report and literature review. 61
31939527 2020
29
Right Hemihepatectomy via an Anterior Approach for Hepatocellular Carcinoma in a Situs Inversus Totalis Patient. 61
32231508 2020
30
Hand-assisted laparoscopic radical nephrectomy for renal cell carcinoma in a patient with situs inversus totalis. 61
31788431 2020
31
A rare cause of acute abdominal pain in a patient with Primary ciliary dyskinesia with situs inversus totalis. 61
32253884 2020
32
Acute Appendicitis in Patients with Kartagener Syndrome. 61
32181046 2020
33
Vertical Endoscopic Gastroplasty in a Patient With Situs Inversus Totalis. 61
32042842 2019
34
99mTc-Labeled Native RBC Scintigraphy in Distinguishing Polysplenia From Abdominal Masses in a Patient With Situs Inversus Totalis. 61
31689285 2019
35
Situs inversus Totalis: Always recall the uncommon. 61
31893103 2019
36
Retracted: Common bile duct stones with situs inversus totalis. 61
31480093 2019
37
Ischemic mitral regurgitation in a patient with dextrocardia and situs inversus totalis. 61
31768245 2019
38
Acute cholecystitis in a patient with heterotaxic anatomy and partial situs inversus. 61
31418295 2019
39
Laparoscopic cholecystectomy for left-sided gall bladder in situs inversus totalis patient, a technically demanding procedure. 61
31645939 2019
40
Permanent His-bundle pacing for dextrocardia with situs inversus totalis using a combination of an electrode catheter and a deflectable sheath. 61
31890571 2019
41
Thoracoscopic segmentectomy assisted by three-dimensional computed tomography bronchography and angiography for lung cancer in a patient living with situs inversus totalis: A case report. 61
31799313 2019
42
Three Cases of Primary Ciliary Dyskinesia Combined With Reduced Exhaled Nitric Oxide. 61
31271036 2019
43
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice. 61
31638833 2019
44
99mTc-Labeled Native RBC Scintigraphy in Distinguishing Polysplenia From Abdominal Masses in a Patient With Situs Inversus Totalis. 61
31693628 2019
45
Laparoscopic Cholecystectomy in Situs Inversus Totalis. 61
31564278 2019
46
Bilateral chylothorax and pericardial effusion following subtotal gastrectomy in a patient with situs inversus totalis. 61
30192067 2019
47
Redo robotic cardiac surgery and concomitant cesarean section in a pregnant patient with dextrocardia and situs inversus totalis. 61
31233237 2019
48
White matter asymmetries in human situs inversus totalis. 61
31197437 2019
49
Robotic distal gastrectomy with D2 lymphadenectomy for gastric cancer in a patient with situs inversus totalis. 61
31500795 2019
50
Electrocardiogram Before Surgery in a 21-Year-Old Woman. 61
31272705 2019

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH7 NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)SNV Pathogenic 599649 rs770861172 2:196722306-196722306 2:195857582-195857582
2 DNAH7 NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)SNV Benign 599650 rs114621989 2:196602773-196602773 2:195738049-195738049

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 9.43 PKD1L1 DNAH9 DNAH7 CFAP53 CFAP52 ANKS3
2 dynein complex GO:0030286 9.16 DNAH9 DNAH7
3 cilium GO:0005929 9.1 PKD1L1 DNAH9 DNAH7 CFAP53 CFAP52 ANKS3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 hematopoietic progenitor cell differentiation GO:0002244 9.51 MMP21 CITED2
2 heart looping GO:0001947 9.49 NODAL CITED2
3 vasculature development GO:0001944 9.48 NODAL CITED2
4 embryonic placenta development GO:0001892 9.46 NODAL CITED2
5 positive regulation of cell-cell adhesion GO:0022409 9.43 NODAL CITED2
6 trophectodermal cell differentiation GO:0001829 9.4 NODAL CITED2
7 left/right axis specification GO:0070986 9.37 PKD1L1 CITED2
8 determination of heart left/right asymmetry GO:0061371 9.32 MMP21 CITED2
9 embryonic process involved in female pregnancy GO:0060136 9.26 NODAL CITED2
10 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.16 NODAL CITED2
11 cilium movement GO:0003341 9.13 DNAH9 DNAH7 CFAP53
12 determination of left/right symmetry GO:0007368 8.92 NODAL MMP21 CITED2 CFAP53

Molecular functions related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.26 DNAH9 DNAH7
2 dynein intermediate chain binding GO:0045505 9.16 DNAH9 DNAH7
3 dynein light intermediate chain binding GO:0051959 8.96 DNAH9 DNAH7
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DNAH9 DNAH7

Sources for Dextrocardia with Situs Inversus

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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