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 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 visceral heterotaxy and heterotaxy. An important gene associated with Dextrocardia with Situs Inversus is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting). Affiliated tissues include heart, liver and lung, 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 top 50) (show all 320)
# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 32.9 CFAP53 MMP21 NODAL PKD1L1
2 heterotaxy 32.1 CFAP53 MMP21 NODAL
3 situs inversus 31.3 CFAP53 NODAL
4 dextrocardia 31.1 CFAP53 HES7 NODAL
5 ventricular septal defect 29.8 CITED2 NODAL
6 retinitis pigmentosa 82 with or without situs inversus 12.6
7 hypoglossia with situs inversus 12.5
8 aglossia and situs inversus 12.3
9 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.3
10 ciliary dyskinesia, primary, 1 12.3
11 jeune syndrome situs inversus 12.2
12 marfanoid habitus with situs inversus 12.2
13 chondrodysplasia situs inversus imperforate anus polydactyly 12.2
14 heterotaxy, visceral, 5, autosomal 12.1
15 ciliary dyskinesia, primary, 3 12.1
16 ciliary dyskinesia, primary, 9 12.0
17 kartagener syndrome 12.0
18 ciliary dyskinesia, primary, 5 12.0
19 ciliary dyskinesia, primary, 7 12.0
20 ciliary dyskinesia, primary, 18 12.0
21 ciliary dyskinesia, primary, 23 12.0
22 ciliary dyskinesia, primary, 10 12.0
23 ciliary dyskinesia, primary, 16 12.0
24 ciliary dyskinesia, primary, 17 12.0
25 ciliary dyskinesia, primary, 19 12.0
26 ciliary dyskinesia, primary, 20 12.0
27 ciliary dyskinesia, primary, 25 12.0
28 ciliary dyskinesia, primary, 26 12.0
29 ciliary dyskinesia, primary, 27 12.0
30 ciliary dyskinesia, primary, 28 12.0
31 ciliary dyskinesia, primary, 35 12.0
32 ciliary dyskinesia, primary, 2 11.9
33 ciliary dyskinesia, primary, 11 11.9
34 ciliary dyskinesia, primary, 12 11.9
35 ciliary dyskinesia, primary, 13 11.9
36 ciliary dyskinesia, primary, 14 11.9
37 ciliary dyskinesia, primary, 15 11.9
38 ciliary dyskinesia, primary, 21 11.9
39 ciliary dyskinesia, primary, 22 11.9
40 ciliary dyskinesia, primary, 29 11.9
41 ciliary dyskinesia, primary, 30 11.9
42 agnathia-otocephaly complex 11.9
43 ciliary dyskinesia, primary, 36, x-linked 11.9
44 ciliary dyskinesia, primary, 24 11.9
45 ciliary dyskinesia, primary, 37 11.9
46 ciliary dyskinesia, primary, 38 11.9
47 heterotaxy, visceral, 1, x-linked 11.9
48 ciliary dyskinesia, primary, 4 11.8
49 right atrial isomerism 11.7
50 warfarin syndrome 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

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 CITED2 NME7 NODAL
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 growth/size/body region MP:0005378 9.7 CFAP53 CITED2 HES7 MMP21 NME7 NODAL
2 embryo MP:0005380 9.65 CFAP53 CITED2 HES7 NODAL PKD1L1
3 craniofacial MP:0005382 9.62 CITED2 MMP21 NME7 NODAL
4 respiratory system MP:0005388 9.43 CFAP53 CITED2 MMP21 NME7 NODAL PKD1L1
5 skeleton MP:0005390 9.02 CITED2 HES7 MMP21 NME7 NODAL

Drugs & Therapeutics for Dextrocardia with Situs Inversus

Search Clinical Trials , 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, Lung, Colon, Kidney, Pancreas, Pituitary

Publications for Dextrocardia with Situs Inversus

Articles related to Dextrocardia with Situs Inversus:

(show top 50) (show all 508)
# 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
Transcatheter aortic valve implantation for severe aortic stenosis in dextrocardia with situs inversus using a self-expanding aortic valve. ( 30279894 )
2018
19
Just flip it!-CRT implantation in a patient with dextrocardia and situs inversus totalis. ( 30555613 )
2018
20
Senning Procedure for Transposition of the Great Arteries in a Patient with Situs Inversus Totalis and Dextrocardia. ( 30173681 )
2018
21
Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Morbid Obesity and Situs Inversus Totalis: a Case Report. ( 30515621 )
2018
22
Bilateral chylothorax and pericardial effusion following subtotal gastrectomy in a patient with situs inversus totalis. ( 30192067 )
2018
23
Pancreatic head cancer involving variant common hepatic artery with situs inversus totalis. ( 26695344 )
2018
24
"Mirror, Mirror on the Wall"… Pediatric liver transplantation in the case of situs inversus totalis with a disrupted inferior vena cava. ( 29761937 )
2018
25
Laparoscopic cholecystectomy with choledochoduodenostomy in a patient with situs inversus totalis. ( 29882522 )
2018
26
Laparoscopic Ovarian Cystectomy in a Patient with Situs Inversus Totalis. ( 30026112 )
2018
27
Retrolaparoscopic adrenalectomy assisted by three-dimensional reconstructed digital model in a patient with situs inversus totalis. ( 30126414 )
2018
28
Robotic low anterior resection plus transanal natural orifice specimen extraction in a patient with situs inversus totalis. ( 30126461 )
2018
29
Thoracoscopic Lung Lobectomy for a Lung Cancer Patient with Situs Inversus Totalis. ( 30224620 )
2018
30
Living donor liver transplantation and situs inversus totalis: cutting the Gordian knot. ( 30317204 )
2018
31
Three-dimensional printing technology: An aid for preoperative airway evaluation in patient with situs inversus totalis. ( 30391458 )
2018
32
Situs Inversus Totalis: Laparoscopic Cholecystectomy and Some Modifications. ( 30487508 )
2018
33
Laparoscopic total gastrectomy for advanced gastric cancer in a patient with situs inversus totalis. ( 28677888 )
2017
34
How Do I Do a Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Situs Inversus Totalis. ( 28560525 )
2017
35
Management of Complicated Choledochal Cyst in an Adult with Situs Inversus Totalis: Diagnostic Difficulties and Technical Notes. ( 29089712 )
2017
36
Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis. ( 28709112 )
2017
37
Ablation of epicardial ventricular tachycardia in a chagasic patient with situs inversus totalis: A case report. ( 29296575 )
2017
38
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
39
Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature. ( 28918753 )
2017
40
Congenital Duodenal Obstruction, Situs Inversus Totalis, and Gastric Perforation in a Neonate. ( 28770132 )
2017
41
Mandibular symphyseal midline distraction osteogenesis for micrognathia associated with aglossia and situs inversus totalis. ( 28610820 )
2017
42
Left side approach for aortic valve replacement in patient with dextrocardia and situs inversus totalis. ( 28983174 )
2017
43
Laparoscopic hemicolectomy for a patient with situs inversus totalis: A case report. ( 29055878 )
2017
44
Radiofrequency Pulmonary Vein Isolation in a Patient with Dextrocardia With Situs Inversus Totalis. ( 28462889 )
2017
45
Pulmonary Vein Isolation for Treatment of Paroxysmal Atrial Fibrillation on Patient with Situs Inversus Totalis. ( 29250224 )
2017
46
A patient with chronic myeloid leukemia and situs inversus totalis: A case report. ( 29344183 )
2017
47
Successful access to the ampulla for endoscopic retrograde cholangiopancreatography in patients with situs inversus totalis: a case report. ( 29183311 )
2017
48
Dextrocardia With Situs Inversus and Levo-Transposition of Great Vessels. ( 28641729 )
2017
49
Images in Anesthesiology: Mirror Image: A Patient with Situs Inversus Totalis. ( 27977454 )
2017
50
Robotic Assisted Distal Gastrectomy for Gastric Cancer in a Patient with Situs Inversus Totalis: with Video. ( 28900793 )
2017

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

6 (show all 20)
# 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 GRCh38 Chromosome 17, 9643087: 9643087
8 CFAP52 NM_145054.4(CFAP52): c.1752G> A (p.Val584=) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9546404: 9546404
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
11 CFAP52 NM_145054.4(CFAP52): c.1625G> A (p.Gly542Asp) single nucleotide variant Uncertain significance rs552119987 GRCh38 Chromosome 17, 9641773: 9641773
12 CFAP52 NM_145054.4(CFAP52): c.1625G> A (p.Gly542Asp) single nucleotide variant Uncertain significance rs552119987 GRCh37 Chromosome 17, 9545090: 9545090
13 CFAP52 NM_145054.4(CFAP52): c.1492A> G (p.Met498Val) single nucleotide variant Uncertain significance rs765338836 GRCh38 Chromosome 17, 9638628: 9638628
14 CFAP52 NM_145054.4(CFAP52): c.1492A> G (p.Met498Val) single nucleotide variant Uncertain significance rs765338836 GRCh37 Chromosome 17, 9541945: 9541945
15 CFAP52 NM_145054.4(CFAP52): c.1404G> T (p.Arg468Ser) single nucleotide variant Uncertain significance rs775063335 GRCh37 Chromosome 17, 9538805: 9538805
16 CFAP52 NM_145054.4(CFAP52): c.1404G> T (p.Arg468Ser) single nucleotide variant Uncertain significance rs775063335 GRCh38 Chromosome 17, 9635488: 9635488
17 CFAP52 NM_145054.4(CFAP52): c.1430T> C (p.Val477Ala) single nucleotide variant Uncertain significance rs77840450 GRCh38 Chromosome 17, 9635514: 9635514
18 CFAP52 NM_145054.4(CFAP52): c.1430T> C (p.Val477Ala) single nucleotide variant Uncertain significance rs77840450 GRCh37 Chromosome 17, 9538831: 9538831
19 CFAP52 NM_145054.4(CFAP52): c.1442C> G (p.Thr481Ser) single nucleotide variant Uncertain significance rs142289033 GRCh37 Chromosome 17, 9538843: 9538843
20 CFAP52 NM_145054.4(CFAP52): c.1442C> G (p.Thr481Ser) single nucleotide variant Uncertain significance rs142289033 GRCh38 Chromosome 17, 9635526: 9635526

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 cilium GO:0005929 8.8 CFAP52 CFAP53 PKD1L1

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 heart looping GO:0001947 9.49 CITED2 NODAL
4 hematopoietic progenitor cell differentiation GO:0002244 9.48 CITED2 MMP21
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
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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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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