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 54
Situs Inversus Totalis 54 60 30 6
Complete Situs Inversus Viscerum 60
Complete Situs Inversus 60
Situs Inversus 60

Characteristics:

Orphanet epidemiological data:

60
situs inversus totalis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q89.3
UMLS via Orphanet 75 C0037221
Orphanet 60 ORPHA101063

Summaries for Dextrocardia with Situs Inversus

NIH Rare Diseases : 54 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, kidney and liver, 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 352)
# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 32.4 CFAP53 DNAH7 MMP21 NODAL PKD1L1
2 heterotaxy 32.0 CFAP53 MMP21 NODAL
3 situs inversus 31.3 CFAP53 NODAL
4 dextrocardia 31.0 CFAP53 HES7 NODAL
5 ventricular septal defect 29.6 CITED2 NODAL
6 retinitis pigmentosa 82 with or without situs inversus 12.6
7 hypoglossia with situs inversus 12.5
8 chondrodysplasia situs inversus imperforate anus polydactyly 12.5
9 aglossia and situs inversus 12.4
10 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.3
11 ciliary dyskinesia, primary, 1 12.3
12 jeune syndrome situs inversus 12.3
13 marfanoid habitus with situs inversus 12.2
14 ciliary dyskinesia, primary, 40 12.2
15 heterotaxy, visceral, 5, autosomal 12.1
16 ciliary dyskinesia, primary, 3 12.1
17 heterotaxy, visceral, 1, x-linked 12.1
18 ciliary dyskinesia, primary, 9 12.1
19 kartagener syndrome 12.1
20 ciliary dyskinesia, primary, 5 12.1
21 ciliary dyskinesia, primary, 7 12.1
22 ciliary dyskinesia, primary, 18 12.1
23 ciliary dyskinesia, primary, 23 12.1
24 ciliary dyskinesia, primary, 10 12.0
25 ciliary dyskinesia, primary, 16 12.0
26 ciliary dyskinesia, primary, 17 12.0
27 ciliary dyskinesia, primary, 19 12.0
28 ciliary dyskinesia, primary, 20 12.0
29 ciliary dyskinesia, primary, 25 12.0
30 ciliary dyskinesia, primary, 26 12.0
31 ciliary dyskinesia, primary, 27 12.0
32 ciliary dyskinesia, primary, 28 12.0
33 ciliary dyskinesia, primary, 35 12.0
34 ciliary dyskinesia, primary, 2 12.0
35 ciliary dyskinesia, primary, 11 12.0
36 ciliary dyskinesia, primary, 12 12.0
37 ciliary dyskinesia, primary, 13 12.0
38 ciliary dyskinesia, primary, 14 12.0
39 ciliary dyskinesia, primary, 15 12.0
40 ciliary dyskinesia, primary, 21 12.0
41 ciliary dyskinesia, primary, 22 12.0
42 ciliary dyskinesia, primary, 29 12.0
43 ciliary dyskinesia, primary, 30 12.0
44 agnathia-otocephaly complex 12.0
45 ciliary dyskinesia, primary, 36, x-linked 11.9
46 ciliary dyskinesia, primary, 24 11.9
47 ciliary dyskinesia, primary, 37 11.9
48 ciliary dyskinesia, primary, 38 11.9
49 ciliary dyskinesia, primary, 39 11.9
50 ciliary dyskinesia, primary, 4 11.9

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:

27 (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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.55 CFAP53 CITED2 HES7 NODAL PKD1L1
2 growth/size/body region MP:0005378 9.5 CFAP53 CITED2 HES7 MMP21 NME7 NODAL
3 respiratory system MP:0005388 9.1 CFAP53 CITED2 MMP21 NME7 NODAL PKD1L1

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 30

Anatomical Context for Dextrocardia with Situs Inversus

MalaCards organs/tissues related to Dextrocardia with Situs Inversus:

42
Heart, Kidney, Liver, Pancreas, Colon, Lung, Thyroid

Publications for Dextrocardia with Situs Inversus

Articles related to Dextrocardia with Situs Inversus:

(show top 50) (show all 518)
# Title Authors Year
1
Ventricular assist device in a patient with congenitally corrected transposition of the great arteries and situs inversus totalis. ( 30630389 )
2019
2
Transcatheter Aortic Valve Replacement in a Patient With Dextrocardia and Situs Inversus Totalis. ( 29908190 )
2019
3
Malignant Duodenal GIST in a Patient with Situs Inversus Totalis-a Rare Association and Brief Review of Literature. ( 28567619 )
2019
4
Solitary adrenal metastasis from advanced gastric cancer invading duodenal bulb with situs inversus totalis: A case report. ( 30985730 )
2019
5
Laparoscopic sigmoidectomy in a case of sigmoid colon cancer with situs inversus totalis. ( 29601667 )
2019
6
Laparoscopic colon resection in patients with situs inversus totalis: Is it the same operation as in patients without situs inversus totalis? ( 29737309 )
2019
7
Laparoscopic radical nephrectomy for a right renal tumor with renal vein tumor thrombus in a patient with situs inversus totalis. ( 29791972 )
2019
8
Laparoscopic Ovarian Cystectomy in a Patient with Situs Inversus Totalis. ( 30026112 )
2019
9
Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Morbid Obesity and Situs Inversus Totalis: a Case Report. ( 30515621 )
2019
10
Duodenoscope combined with laparoscopy in treatment of biliary stones for a patient with situs inversus totalis: A case report. ( 30762727 )
2019
11
Primary pulmonary lymphoepithelioma-like carcinoma combined with situs inversus totalis. ( 30614861 )
2019
12
Liver Transplant From a Donor With Situs Inversus Totalis Using Orthotopic and Retroversus Technique: A Case Report. ( 30879595 )
2019
13
The First Report of Laparoscopic Pancreaticoduodenectomy for Primary Duodenal Carcinoma in a Patient With Situs Inversus Totalis: Report of a Rare Case. ( 30889057 )
2019
14
Pipeline embolization device implantation in large carotid cavernous aneurysm associated with situs inversus totalis. ( 30895840 )
2019
15
Laparoscopic right colectomy for a patient with situs inversus totalis. ( 30949333 )
2019
16
Senning Procedure for Transposition of the Great Arteries in a Patient with Situs Inversus Totalis and Dextrocardia. ( 30173681 )
2018
17
Transcatheter aortic valve implantation for severe aortic stenosis in dextrocardia with situs inversus using a self-expanding aortic valve. ( 30279894 )
2018
18
Just flip it!-CRT implantation in a patient with dextrocardia and situs inversus totalis. ( 30555613 )
2018
19
Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome. ( 30585568 )
2018
20
Situs Inversus Totalis and Cholangiocarcinoma of the Gallbladder Detected by 18F-FDG PET/CT. ( 29538026 )
2018
21
Situs Inversus Totalis: Single-Stage Anatomic Repair of Complex Congenital Heart Disease. ( 27881809 )
2018
22
Laparoscopic total gastrectomy for advanced gastric cancer in a patient with situs inversus totalis. ( 28677888 )
2018
23
Bilateral chylothorax and pericardial effusion following subtotal gastrectomy in a patient with situs inversus totalis. ( 30192067 )
2018
24
Brain structural and functional asymmetry in human situs inversus totalis. ( 29302744 )
2018
25
Deranged Myocyte Microstructure in Situs Inversus Totalis Demonstrated by Diffusion Tensor Cardiac Magnetic Resonance. ( 29361490 )
2018
26
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
27
Situs inversus totalis with solid pseudopapillary pancreatic tumor: A case report and review of literature. ( 29561447 )
2018
28
Laparoscopic Roux-en-Y gastric bypass in a patient with situs inversus totalis: Case report, technical tips and review of the literature. ( 29573597 )
2018
29
Gastric cancer with situs inversus totalis: does it really create difficulties for surgeons? ( 29657611 )
2018
30
Video-assisted thoracoscopic bisegmentectomies for double primary lung cancers in a patient with situs inversus totalis. ( 29671216 )
2018
31
Superficial Spreading-type Gastric Cancer with Situs Inversus Totalis. ( 29695579 )
2018
32
"Mirror, Mirror on the Wall"… Pediatric liver transplantation in the case of situs inversus totalis with a disrupted inferior vena cava. ( 29761937 )
2018
33
Laparoscopic biliopancreatic diversion for a morbidly obese patient with situs inversus totalis: Case report. ( 29860118 )
2018
34
Atypical brain functional segregation is more frequent in situs inversus totalis. ( 29864592 )
2018
35
Laparoscopic cholecystectomy with choledochoduodenostomy in a patient with situs inversus totalis. ( 29882522 )
2018
36
Variations in vascular anatomy and unilateral adrenal agenesis in a female cadaver with situs inversus totalis. ( 29931532 )
2018
37
Retrolaparoscopic adrenalectomy assisted by three-dimensional reconstructed digital model in a patient with situs inversus totalis. ( 30126414 )
2018
38
Robotic low anterior resection plus transanal natural orifice specimen extraction in a patient with situs inversus totalis. ( 30126461 )
2018
39
Thoracoscopic Lung Lobectomy for a Lung Cancer Patient with Situs Inversus Totalis. ( 30224620 )
2018
40
Living donor liver transplantation and situs inversus totalis: cutting the Gordian knot. ( 30317204 )
2018
41
Three-dimensional printing technology: An aid for preoperative airway evaluation in patient with situs inversus totalis. ( 30391458 )
2018
42
Situs Inversus Totalis: Laparoscopic Cholecystectomy and Some Modifications. ( 30487508 )
2018
43
Single-incision laparoscopic cholecystectomy using conventional instruments in situs inversus totalis. ( 30567103 )
2018
44
A Backwards Approach to Bariatric Surgery: The Perioperative Approach Used in a Woman with Situs Inversus Totalis Undergoing a Laparoscopic Sleeve Gastrectomy. ( 30585280 )
2018
45
Reduced-Port Laparoscopic Surgery for Patients With Proximal Transverse Colon Cancer With Situs Inversus Totalis: A Case Report. ( 30630305 )
2018
46
Endoscopic submucosal dissection of early gastric cancer via inverted overtube in a patient with situs inversus totalis: a case report. ( 29756022 )
2018
47
Successful transcatheter aortic valve implantation for severe aortic stenosis of a bicuspid valve with situs inversus totalis guided by advanced image processing: a case report. ( 31020128 )
2018
48
Pancreatic head cancer involving variant common hepatic artery with situs inversus totalis. ( 26695344 )
2018
49
Unusual case of ATTR amyloidosis with cardiac manifestation and situs inversus totalis. ( 28116497 )
2017
50
Cholecystitis in situs inversus totalis. ( 28513106 )
2017

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3del deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
2 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3del 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 CCDC103 NM_213607.2(CCDC103): c.568_569dup (p.Ser190Argfs) duplication Likely pathogenic rs746242380 GRCh37 Chromosome 17, 42980024: 42980025
6 CCDC103 NM_213607.2(CCDC103): c.568_569dup (p.Ser190Argfs) duplication Likely pathogenic rs746242380 GRCh38 Chromosome 17, 44902656: 44902657
7 CFAP52 NM_145054.4(CFAP52): c.199G> A (p.Val67Ile) single nucleotide variant Uncertain significance rs201479202 GRCh37 Chromosome 17, 9489218: 9489218
8 CFAP52 NM_145054.4(CFAP52): c.199G> A (p.Val67Ile) single nucleotide variant Uncertain significance rs201479202 GRCh38 Chromosome 17, 9585901: 9585901
9 CFAP52 NM_145054.4(CFAP52): c.1752G> A (p.Val584=) single nucleotide variant Uncertain significance rs1555545305 GRCh37 Chromosome 17, 9546404: 9546404
10 CFAP52 NM_145054.4(CFAP52): c.1752G> A (p.Val584=) single nucleotide variant Uncertain significance rs1555545305 GRCh38 Chromosome 17, 9643087: 9643087
11 CFAP52 NM_145054.4(CFAP52): c.1185C> T (p.Asp395=) single nucleotide variant Benign rs149428354 GRCh38 Chromosome 17, 9632898: 9632898
12 CFAP52 NM_145054.4(CFAP52): c.1185C> T (p.Asp395=) single nucleotide variant Benign rs149428354 GRCh37 Chromosome 17, 9536215: 9536215
13 CFAP52 NM_145054.4(CFAP52): c.1625G> A (p.Gly542Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 9641773: 9641773
14 CFAP52 NM_145054.4(CFAP52): c.1625G> A (p.Gly542Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9545090: 9545090
15 CFAP52 NM_145054.4(CFAP52): c.1492A> G (p.Met498Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 9638628: 9638628
16 CFAP52 NM_145054.4(CFAP52): c.1492A> G (p.Met498Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9541945: 9541945
17 CFAP52 NM_145054.4(CFAP52): c.1404G> T (p.Arg468Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9538805: 9538805
18 CFAP52 NM_145054.4(CFAP52): c.1404G> T (p.Arg468Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 9635488: 9635488
19 CFAP52 NM_145054.4(CFAP52): c.1430T> C (p.Val477Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 9635514: 9635514
20 CFAP52 NM_145054.4(CFAP52): c.1430T> C (p.Val477Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9538831: 9538831
21 CFAP52 NM_145054.4(CFAP52): c.1442C> G (p.Thr481Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 9538843: 9538843
22 CFAP52 NM_145054.4(CFAP52): c.1442C> G (p.Thr481Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 9635526: 9635526
23 DNAH7 NM_018897.3(DNAH7): c.8209G> A (p.Gly2737Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 195857582: 195857582
24 DNAH7 NM_018897.3(DNAH7): c.8209G> A (p.Gly2737Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 196722306: 196722306
25 DNAH7 NM_018897.3(DNAH7): c.11947C> T (p.Arg3983Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 195738049: 195738049
26 DNAH7 NM_018897.3(DNAH7): c.11947C> T (p.Arg3983Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 196602773: 196602773

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 9.26 CFAP52 CFAP53 DNAH7 PKD1L1
2 cilium GO:0005929 8.92 CFAP52 CFAP53 DNAH7 PKD1L1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.84 CFAP53 CITED2 HES7 NODAL
2 liver development GO:0001889 9.52 CITED2 NODAL
3 heart looping GO:0001947 9.51 CITED2 NODAL
4 hematopoietic progenitor cell differentiation GO:0002244 9.49 CITED2 MMP21
5 cilium movement GO:0003341 9.48 CFAP53 DNAH7
6 vasculature development GO:0001944 9.46 CITED2 NODAL
7 embryonic placenta development GO:0001892 9.43 CITED2 NODAL
8 trophectodermal cell differentiation GO:0001829 9.4 CITED2 NODAL
9 left/right axis specification GO:0070986 9.37 CITED2 PKD1L1
10 positive regulation of cell-cell adhesion GO:0022409 9.32 CITED2 NODAL
11 determination of heart left/right asymmetry GO:0061371 9.26 CITED2 MMP21
12 embryonic process involved in female pregnancy GO:0060136 9.16 CITED2 NODAL
13 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 8.96 CITED2 NODAL
14 determination of left/right symmetry GO:0007368 8.92 CFAP53 CITED2 MMP21 NODAL

Sources for Dextrocardia with Situs Inversus

3 CDC
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10 dbSNP
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