MCID: DXT002
MIFTS: 40

Dextrocardia with Situs Inversus

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Dextrocardia with Situs Inversus

MalaCards integrated aliases for Dextrocardia with Situs Inversus:

Name: Dextrocardia with Situs Inversus 53
Situs Inversus Totalis 53 59 29 6
Complete Situs Inversus Viscerum 59
Complete Situs Inversus 59
Situs Inversus 59

Characteristics:

Orphanet epidemiological data:

59
situs inversus totalis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable;

Classifications:



External Ids:

Orphanet 59 ORPHA101063
UMLS via Orphanet 74 C0037221
ICD10 via Orphanet 34 Q89.3

Summaries for Dextrocardia with Situs Inversus

NIH Rare Diseases : 53 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 situs inversus and dextrocardia. An important gene associated with Dextrocardia with Situs Inversus is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting). The drugs Kava and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and colon, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased 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 all 46)
# Related Disease Score Top Affiliating Genes
1 situs inversus 30.7 CFAP53 NODAL
2 dextrocardia 30.4 CFAP53 HES7 NODAL
3 ventricular septal defect 29.1 CITED2 NODAL
4 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.3
5 kartagener syndrome 11.6
6 heterotaxy, visceral, 6, autosomal 11.2
7 ciliary dyskinesia, primary, 25 11.2
8 ciliary dyskinesia, primary, 26 11.2
9 warfarin syndrome 11.2
10 fraser jequier chen syndrome 11.2
11 myocardial infarction 10.2
12 sinusitis 10.1
13 heterotaxy, visceral, 5, autosomal 10.0
14 arteries, anomalies of 9.9
15 atrial standstill 1 9.9
16 progressive familial heart block, type ia 9.9
17 coarctation of aorta 9.9
18 rheumatic fever-related antigen 9.9
19 transposition of the great arteries, dextro-looped 1 9.9
20 spondylocostal dysostosis 3, autosomal recessive 9.9
21 angina pectoris 9.9
22 pulmonary hypertension 9.9
23 acute myocardial infarction 9.9
24 coronary artery anomaly 9.9
25 atrial fibrillation 9.9
26 heart disease 9.9
27 hypertensive heart disease 9.9
28 sick sinus syndrome 9.9
29 rheumatic fever 9.9
30 duodenal ulcer 9.9
31 pericarditis 9.9
32 atrial heart septal defect 9.9
33 dysostosis 9.9
34 cerebritis 9.9
35 infertility 9.9
36 bronchitis 9.9
37 duodenitis 9.9
38 bronchiectasis 9.9
39 acute articular rheumatism 9.9
40 aortic coarctation 9.9
41 isolated levocardia 9.9
42 aneurysm 9.9
43 levocardia 9.9
44 heart septal defect 9.8 CITED2 NODAL
45 heterotaxy 9.1 CFAP53 MMP21 NODAL PKD1L1
46 visceral heterotaxy 9.0 CFAP53 MMP21 NODAL PKD1L1

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 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.62 NODAL
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.62 CITED2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.62 NODAL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.62 NME7
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.62 NME7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 NODAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.62 NME7 NODAL CITED2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.62 NODAL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.62 NODAL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.62 NODAL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.62 NME7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.62 CITED2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.62 CITED2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.62 CITED2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 NME7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.62 NME7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.62 NME7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 NME7

MGI Mouse Phenotypes related to Dextrocardia with Situs Inversus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 CITED2 MMP21 NME7 NODAL
2 respiratory system MP:0005388 9.35 MMP21 NME7 NODAL PKD1L1 CITED2
3 skeleton MP:0005390 9.02 CITED2 HES7 MMP21 NME7 NODAL

Drugs & Therapeutics for Dextrocardia with Situs Inversus

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Approved, Investigational, Nutraceutical 9000-38-8
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
3 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
4 Genetic Analysis of Left-Right Axis Formations Completed NCT00341133
5 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
6 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
7 Racial Distribution of Heterotaxy Syndrome Terminated NCT00485654

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:

41
Heart, Liver, Colon, Lung, Pancreas, Brain, Kidney

Publications for Dextrocardia with Situs Inversus

Articles related to Dextrocardia with Situs Inversus:

(show top 50) (show all 392)
# Title Authors Year
1
Superficial Spreading-type Gastric Cancer with <i>Situs Inversus Totalis</i>. ( 29695579 )
2018
2
Laparoscopic biliopancreatic diversion for a morbidly obese patient with situs inversus totalis: Case report. ( 29860118 )
2018
3
Laparoscopic colon resection in patients with situs inversus totalis: Is it the same operation as in patients without situs inversus totalis? ( 29737309 )
2018
4
Laparoscopic Roux-en-Y gastric bypass in a patient with situs inversus totalis: Case report, technical tips and review of the literature. ( 29573597 )
2018
5
Case report about a successful full robotic radical gastric cancer surgery with intracorporeal robot-sewn anastomosis in a patient with situs inversus totalis and a two-and-a-half-year follow-up study. ( 29499701 )
2018
6
Transcatheter Aortic Valve Replacement in a Patient with Dextrocardia and Situs Inversus Totalis. ( 29908190 )
2018
7
Gastric cancer with situs inversus totalis: does it really create difficulties for surgeons? ( 29657611 )
2018
8
Situs Inversus Totalis and Cholangiocarcinoma of the Gallbladder Detected by 18F-FDG PET/CT. ( 29538026 )
2018
9
Situs inversus totalis with solid pseudopapillary pancreatic tumor: A case report and review of literature. ( 29561447 )
2018
10
Variations in vascular anatomy and unilateral adrenal agenesis in a female cadaver with situs inversus totalis. ( 29931532 )
2018
11
Endoscopic submucosal dissection of early gastric cancer via inverted overtube in a patient with situs inversus totalis: a case report. ( 29756022 )
2018
12
Brain structural and functional asymmetry in human situs inversus totalis. ( 29302744 )
2018
13
Atypical brain functional segregation is more frequent in situs inversus totalis. ( 29864592 )
2018
14
Laparoscopic sigmoidectomy in a case of sigmoid colon cancer with situs inversus totalis. ( 29601667 )
2018
15
Deranged Myocyte Microstructure in Situs Inversus Totalis Demonstrated by Diffusion Tensor Cardiac Magnetic Resonance. ( 29361490 )
2018
16
Laparoscopic radical nephrectomy for a right renal tumor with renal vein tumor thrombus in a patient with situs inversus totalis. ( 29791972 )
2018
17
Video-assisted thoracoscopic bisegmentectomies for double primary lung cancers in a patient with situs inversus totalis. ( 29671216 )
2018
18
Laparoscopic cholecystectomy with choledochoduodenostomy in a patient with situs inversus totalis. ( 29882522 )
2018
19
Laparoscopic total gastrectomy for advanced gastric cancer in a patient with situs inversus totalis. ( 28677888 )
2017
20
How Do I Do a Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Situs Inversus Totalis. ( 28560525 )
2017
21
Management of Complicated Choledochal Cyst in an Adult with Situs Inversus Totalis: Diagnostic Difficulties and Technical Notes. ( 29089712 )
2017
22
Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis. ( 28709112 )
2017
23
Ablation of epicardial ventricular tachycardia in a chagasic patient with situs inversus totalis: A case report. ( 29296575 )
2017
24
Gastric cancer in a situs inversus totalis patient with multiple intestinal and vessel variations related to gastrectomy surgery: A case report and literature review. ( 28953685 )
2017
25
Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature. ( 28918753 )
2017
26
Congenital Duodenal Obstruction, Situs Inversus Totalis, and Gastric Perforation in a Neonate. ( 28770132 )
2017
27
Mandibular symphyseal midline distraction osteogenesis for micrognathia associated with aglossia and situs inversus totalis. ( 28610820 )
2017
28
Left side approach for aortic valve replacement in patient with dextrocardia and situs inversus totalis. ( 28983174 )
2017
29
Laparoscopic hemicolectomy for a patient with situs inversus totalis: A case report. ( 29055878 )
2017
30
Radiofrequency Pulmonary Vein Isolation in a Patient with Dextrocardia With Situs Inversus Totalis. ( 28462889 )
2017
31
Pulmonary Vein Isolation for Treatment of Paroxysmal Atrial Fibrillation on Patient with Situs Inversus Totalis. ( 29250224 )
2017
32
A patient with chronic myeloid leukemia and situs inversus totalis: A case report. ( 29344183 )
2017
33
Successful access to the ampulla for endoscopic retrograde cholangiopancreatography in patients with situs inversus totalis: a case report. ( 29183311 )
2017
34
Dextrocardia With Situs Inversus and Levo-Transposition of Great Vessels. ( 28641729 )
2017
35
Images in Anesthesiology: Mirror Image: A Patient with Situs Inversus Totalis. ( 27977454 )
2017
36
Robotic Assisted Distal Gastrectomy for Gastric Cancer in a Patient with Situs Inversus Totalis: with Video. ( 28900793 )
2017
37
ERCP and Laparoscopic cholecystectomy in a patient with situs inversus totalis. ( 28651902 )
2017
38
Video-assisted thoracic surgery and jejunal reconstruction in a case of situs inversus totalis with esophageal cancer. ( 28681978 )
2017
39
Pure laparoscopic right hepatectomy in a patient with situs inversus totalis: A case report. ( 28834914 )
2017
40
Laparoscopic cholecystectomy in a case of situs inversus totalis: a review of technical challenges and adaptations. ( 28567452 )
2017
41
A challenging case of giant biliary stones in a patient with situs inversus totalis: conventional ERCP combined with intraductal cholangioscopy and laser lithotripsy. ( 28719937 )
2017
42
Video-assisted thoracoscopic surgery right upper lobectomy in a situs inversus totalis patient. ( 29268562 )
2017
43
Malignant Duodenal GIST in a Patient with Situs Inversus Totalis-a Rare Association and Brief Review of Literature. ( 28567619 )
2017
44
Left superior pulmonary vein connected to superior vena cava vein in a patient with situs inversus totalis: A challenging diagnosis. ( 28929519 )
2017
45
Delayed diagnosis of abdominal pain in patient with situs inversus totalis in emergency department: A case report. ( 29245291 )
2017
46
A case report of congenital scoliosis associated with situs inversus totalis. ( 29390355 )
2017
47
VACTER syndrome with situs inversus totalis: Case report and a new syndrome. ( 28640129 )
2017
48
Cholecystitis in situs inversus totalis. ( 28513106 )
2017
49
Successful Obstetric Outcome in Dextrocardia with Situs Inversus and Moderate Pulmonary Hypertension- Rare Case. ( 27891408 )
2016
50
Robotic atrial septal defect closure and tricuspid annuloplasty in a case of situs inversus totalis with dextrocardia. ( 27344445 )
2016

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
2 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh37 Chromosome 7, 47870812: 47870813
3 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Likely pathogenic rs886037834 GRCh38 Chromosome 7, 47846960: 47846960
4 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Likely pathogenic rs886037834 GRCh37 Chromosome 7, 47886558: 47886558
5 CFAP52 NM_145054.4(CFAP52): c.199G> A (p.Val67Ile) single nucleotide variant Uncertain significance rs201479202 GRCh37 Chromosome 17, 9489218: 9489218
6 CFAP52 NM_145054.4(CFAP52): c.199G> A (p.Val67Ile) single nucleotide variant Uncertain significance rs201479202 GRCh38 Chromosome 17, 9585901: 9585901
7 CFAP52 NM_145054.4(CFAP52): c.1752G> A (p.Val584=) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9546404: 9546404
8 CFAP52 NM_145054.4(CFAP52): c.1752G> A (p.Val584=) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 9643087: 9643087
9 CFAP52 NM_145054.4(CFAP52): c.1185C> T (p.Asp395=) single nucleotide variant Benign rs149428354 GRCh38 Chromosome 17, 9632898: 9632898
10 CFAP52 NM_145054.4(CFAP52): c.1185C> T (p.Asp395=) single nucleotide variant Benign rs149428354 GRCh37 Chromosome 17, 9536215: 9536215

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

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 multicellular organism development GO:0007275 9.83 CFAP53 CITED2 HES7 NODAL
2 liver development GO:0001889 9.51 CITED2 NODAL
3 hematopoietic progenitor cell differentiation GO:0002244 9.49 CITED2 MMP21
4 heart looping GO:0001947 9.48 CITED2 NODAL
5 vasculature development GO:0001944 9.46 CITED2 NODAL
6 embryonic placenta development GO:0001892 9.43 CITED2 NODAL
7 trophectodermal cell differentiation GO:0001829 9.4 CITED2 NODAL
8 left/right axis specification GO:0070986 9.37 CITED2 PKD1L1
9 positive regulation of cell-cell adhesion GO:0022409 9.32 CITED2 NODAL
10 determination of heart left/right asymmetry GO:0061371 9.26 CITED2 MMP21
11 embryonic process involved in female pregnancy GO:0060136 9.16 CITED2 NODAL
12 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 8.96 CITED2 NODAL
13 determination of left/right symmetry GO:0007368 8.92 CFAP53 CITED2 MMP21 NODAL

Sources for Dextrocardia with Situs Inversus

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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