MCID: STS002
MIFTS: 48

Situs Inversus

Categories: Rare diseases

Aliases & Classifications for Situs Inversus

MalaCards integrated aliases for Situs Inversus:

Name: Situs Inversus 12 49 51 41 14
Situs Inversus Viscerum 12 49
Complete Transposition 12
Laterality Sequence 12
Siv 49

Classifications:



External Ids:

Disease Ontology 12 DOID:758
ICD10 32 Q89.3
ICD9CM 34 759.3
MeSH 41 D012857
NCIt 46 C87121
UMLS 69 C0037221

Summaries for Situs Inversus

NIH Rare Diseases : 49 Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported. Last updated: 6/1/2015

MalaCards based summary : Situs Inversus, also known as situs inversus viscerum, is related to dextrocardia with situs inversus and dextrocardia. An important gene associated with Situs Inversus is DNAI1 (Dynein Axonemal Intermediate Chain 1). The drugs Spironolactone and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are cellular and growth/size/body region

Related Diseases for Situs Inversus

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

(show top 50) (show all 319)
# Related Disease Score Top Affiliating Genes
1 dextrocardia with situs inversus 33.7 CFAP53 NODAL
2 dextrocardia 32.4 DNAI1 NODAL
3 ciliary dyskinesia, primary, 1 30.9 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
4 kartagener syndrome 29.7 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
5 heterotaxy 29.4 CFAP53 NODAL
6 visceral heterotaxy 29.3 CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11 DNAH5
7 renal-hepatic-pancreatic dysplasia 29.1 INVS NODAL
8 primary ciliary dyskinesia 27.1 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
9 retinitis pigmentosa with or without situs inversus 12.4
10 hypoglossia with situs inversus 12.3
11 chondrodysplasia situs inversus imperforate anus polydactyly 12.3
12 aglossia and situs inversus 12.2
13 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.1
14 jeune syndrome situs inversus 12.1
15 marfanoid habitus with situs inversus 12.1
16 heterotaxy, visceral, 5, autosomal 12.0
17 ciliary dyskinesia, primary, 3 11.9
18 ciliary dyskinesia, primary, 9 11.9
19 isolated levocardia 11.9
20 ciliary dyskinesia, primary, 5 11.9
21 ciliary dyskinesia, primary, 7 11.9
22 ciliary dyskinesia, primary, 18 11.9
23 ciliary dyskinesia, primary, 23 11.9
24 ciliary dyskinesia, primary, 10 11.8
25 ciliary dyskinesia, primary, 16 11.8
26 ciliary dyskinesia, primary, 17 11.8
27 ciliary dyskinesia, primary, 19 11.8
28 ciliary dyskinesia, primary, 20 11.8
29 ciliary dyskinesia, primary, 25 11.8
30 ciliary dyskinesia, primary, 26 11.8
31 ciliary dyskinesia, primary, 27 11.8
32 ciliary dyskinesia, primary, 28 11.8
33 ciliary dyskinesia, primary, 35 11.8
34 levocardia 11.8
35 agnathia-otocephaly complex 11.8
36 ciliary dyskinesia, primary, 2 11.8
37 ciliary dyskinesia, primary, 11 11.8
38 ciliary dyskinesia, primary, 12 11.8
39 ciliary dyskinesia, primary, 13 11.8
40 ciliary dyskinesia, primary, 14 11.8
41 ciliary dyskinesia, primary, 15 11.8
42 ciliary dyskinesia, primary, 21 11.8
43 ciliary dyskinesia, primary, 22 11.8
44 ciliary dyskinesia, primary, 29 11.8
45 ciliary dyskinesia, primary, 30 11.8
46 ciliary dyskinesia, primary, 36, x-linked 11.7
47 ciliary dyskinesia, primary, 24 11.7
48 ciliary dyskinesia, primary, 37 11.7
49 heterotaxy, visceral, 1, x-linked 11.7
50 ciliary dyskinesia, primary, 4 11.7

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



Diseases related to Situs Inversus

Symptoms & Phenotypes for Situs Inversus

MGI Mouse Phenotypes related to Situs Inversus:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 CCDC39 CCDC40 NODAL DNAH11 DNAH5 DNAI1
2 growth/size/body region MP:0005378 9.81 LZTFL1 CCDC40 NODAL DNAH11 DNAH5 DNAI1
3 craniofacial MP:0005382 9.73 NODAL DNAAF1 DNAH11 DNAH5 DNAI1 CCDC39
4 mortality/aging MP:0010768 9.61 INVS CCDC39 CCDC40 NODAL DNAAF1 RSPH9
5 respiratory system MP:0005388 9.23 CCDC40 NODAL DNAH11 DNAH5 DNAI1 DNAI2

Drugs & Therapeutics for Situs Inversus

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2 diuretics Phase 4
3 Mineralocorticoid Receptor Antagonists Phase 4
4 Mineralocorticoids Phase 4
5 Natriuretic Agents Phase 4
6 Natriuretic Peptide, Brain Phase 4
7 Hormone Antagonists Phase 4
8 Hormones Phase 4
9 Diuretics, Potassium Sparing Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Pharmaceutical Solutions Phase 2
12 Antihypertensive Agents Phase 2
13
Nitric Oxide Approved 10102-43-9 145068
14
Dobutamine Approved 34368-04-2 36811
15
Menthol Approved 2216-51-5 16666
16
Mechlorethamine Approved, Investigational 51-75-2 4033
17 Respiratory System Agents
18 Neurotransmitter Agents
19 Vasodilator Agents
20 Peripheral Nervous System Agents
21 Anti-Asthmatic Agents
22 Endothelium-Dependent Relaxing Factors
23 Protective Agents
24 Antioxidants
25 Autonomic Agents
26 Bronchodilator Agents
27 Liver Extracts

Interventional clinical trials:

(show all 39)

# Name Status NCT ID Phase Drugs
1 Water Immersion in Right-Sided Heart Failure: A Pilot Study Completed NCT00654264 Phase 4
2 Spironolactone Therapy in Chronic Stable Right HF Trial Not yet recruiting NCT03344159 Phase 4 Spironolactone;Placebo
3 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2 Ambrisentan
4 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Recruiting NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
5 Cardiovascular MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young Adults Unknown status NCT02415491
6 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
7 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
8 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
9 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
10 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
11 Physical Training in Transposition of the Great Arteries Completed NCT00837603
12 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442
13 Portal Flow Pulsatility as a Risk Factor for Acute Kidney Injury After Cardiac Surgery Completed NCT02831907
14 Evaluation of Monitoring TECHNOlogies in the PERI-OPerative Care of Cardiac Surgical Patients Completed NCT02658006
15 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
16 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
17 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
18 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
19 Non-invasive Assessment of Liver Stiffness/Fibrosis by Transient Elastography (Fibroscan) in Patients With Left and/or Right Sided Heart Failure Completed NCT00777725
20 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
21 Fibrosis, Valvular and Ventricular Function in Patients With TGA Recruiting NCT02588989
22 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
23 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Recruiting NCT03370029
24 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
25 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
26 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
27 High Resolution Micro OCT Imaging Recruiting NCT03256773
28 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
29 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
30 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
31 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
32 Open Lung Strategy in Critically Ill Morbid Obese Patients Active, not recruiting NCT02503241
33 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
34 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
35 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
36 Late Function After Surgery for Transposition of the Great Arteries Enrolling by invitation NCT03078413
37 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
38 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
39 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356

Search NIH Clinical Center for Situs Inversus

Cochrane evidence based reviews: situs inversus

Genetic Tests for Situs Inversus

Anatomical Context for Situs Inversus

MalaCards organs/tissues related to Situs Inversus:

38
Heart, Liver, Lung, Kidney, Brain, Colon, Pancreas

Publications for Situs Inversus

Articles related to Situs Inversus:

(show top 50) (show all 788)
# Title Authors Year
1
Brain structural and functional asymmetry in human situs inversus totalis. ( 29302744 )
2018
2
Deranged Myocyte Microstructure in Situs Inversus Totalis Demonstrated by Diffusion Tensor Cardiac Magnetic Resonance. ( 29361490 )
2018
3
A twin study of cilioretinal arteries, tilted discs and situs inversus. ( 29242987 )
2018
4
Robot-assisted distal gastrectomy with lymph node dissection for gastric cancer in a patient with situs inversus partialis: a case report with video file. ( 29441475 )
2018
5
Portal vein embolisation in a patient with situs inversus. ( 29348286 )
2018
6
Thoracoscopic total esophagogastrectomy with supercharged colon interposition for the treatment of esophageal adenocarcinoma in situs inversus. ( 29436979 )
2018
7
Video-assisted thoracoscopic surgery right upper lobectomy in a situs inversus totalis patient. ( 29268562 )
2017
8
Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature. ( 28918753 )
2017
9
Laparoscopic hemicolectomy for a patient with situs inversus totalis: A case report. ( 29055878 )
2017
10
Malignant Duodenal GIST in a Patient with Situs Inversus Totalis-a Rare Association and Brief Review of Literature. ( 28567619 )
2017
11
Pulmonary Vein Isolation for Treatment of Paroxysmal Atrial Fibrillation on Patient with Situs Inversus Totalis. ( 29250224 )
2017
12
Situs Inversus with Levocardia and Congenitally Corrected Transposition of Great Vessels in a 35 year old Male: A Case report. ( 28243408 )
2017
13
ERCP and Laparoscopic cholecystectomy in a patient with situs inversus totalis. ( 28651902 )
2017
14
Radiofrequency Pulmonary Vein Isolation in a Patient with Dextrocardia With Situs Inversus Totalis. ( 28462889 )
2017
15
Management of Complicated Choledochal Cyst in an Adult with Situs Inversus Totalis: Diagnostic Difficulties and Technical Notes. ( 29089712 )
2017
16
Double-balloon enteroscopy-assisted ERCP in situs inversus with Roux-en-Y hepaticojejunostomy for complex anastomotic stricture dilated with Soehendra stent retriever. ( 28068702 )
2017
17
Video-assisted thoracic surgery and jejunal reconstruction in a case of situs inversus totalis with esophageal cancer. ( 28681978 )
2017
18
Mandibular symphyseal midline distraction osteogenesis for micrognathia associated with aglossia and situs inversus totalis. ( 28610820 )
2017
19
Situs inversus: When an incidental finding is not so incidental. ( 28670800 )
2017
20
Off-pump Coronary Artery Bypass Surgery in a Patient with Dextrocardia and Situs Inversus: Anesthetic, Surgical Consideration and Role of Transesophageal Echocardiography. ( 29184618 )
2017
21
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
22
Laparoscopic total gastrectomy for advanced gastric cancer in a patient with situs inversus totalis. ( 28677888 )
2017
23
Successful access to the ampulla for endoscopic retrograde cholangiopancreatography in patients with situs inversus totalis: a case report. ( 29183311 )
2017
24
A case report of congenital scoliosis associated with situs inversus totalis. ( 29390355 )
2017
25
Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis. ( 28709112 )
2017
26
Congenital Duodenal Obstruction, Situs Inversus Totalis, and Gastric Perforation in a Neonate. ( 28770132 )
2017
27
Three-dimensional electroanatomical mapping for non-pulmonary vein foci in a patient with complete situs inversus and dextrocardia. ( 29274801 )
2017
28
Surgical challenge in situs inversus with dextrocardia and Lutembacher syndrome. ( 29214824 )
2017
29
Delayed diagnosis of abdominal pain in patient with situs inversus totalis in emergency department: A case report. ( 29245291 )
2017
30
Dextrocardia With Situs Inversus and Levo-Transposition of Great Vessels. ( 28641729 )
2017
31
Images in Anesthesiology: Mirror Image: A Patient with Situs Inversus Totalis. ( 27977454 )
2017
32
Left superior pulmonary vein connected to superior vena cava vein in a patient with situs inversus totalis: A challenging diagnosis. ( 28929519 )
2017
33
How Do I Do a Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Situs Inversus Totalis. ( 28560525 )
2017
34
Ablation of epicardial ventricular tachycardia in a chagasic patient with situs inversus totalis: A case report. ( 29296575 )
2017
35
Robotic Assisted Distal Gastrectomy for Gastric Cancer in a Patient with Situs Inversus Totalis: with Video. ( 28900793 )
2017
36
A colovesical fistula with a persistent descending mesocolon due to partial situs inversus: A case report. ( 28654851 )
2017
37
VACTER syndrome with situs inversus totalis: Case report and a new syndrome. ( 28640129 )
2017
38
Pure laparoscopic right hepatectomy in a patient with situs inversus totalis: A case report. ( 28834914 )
2017
39
Laparoscopic cholecystectomy in a case of situs inversus totalis: a review of technical challenges and adaptations. ( 28567452 )
2017
40
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
41
Left side approach for aortic valve replacement in patient with dextrocardia and situs inversus totalis. ( 28983174 )
2017
42
Cholecystitis in situs inversus totalis. ( 28513106 )
2017
43
A patient with chronic myeloid leukemia and situs inversus totalis: A case report. ( 29344183 )
2017
44
Hand-assisted robotic right donor nephrectomy in patient with total situs inversus: A case report. ( 27085108 )
2016
45
Repair of Posterior Infarct Ventricular Septal Defect in a Patient with Dextrocardia and Situs Inversus. ( 26785697 )
2016
46
Percutaneous Endoscopic Gastrostomy in Situs Inversus Totalis. ( 27981935 )
2016
47
Tetralogy of Fallot and pheochromocytoma in a situs inversus totalis: An unusual association. ( 27777699 )
2016
48
Minimally invasive mitral valve repair in situs inversus totalis. ( 27862312 )
2016
49
Hepatocellular Carcinoma with Hypersplenic Thrombocytopenia and Situs Inversus Totalis: A Case Report. ( 28031104 )
2016
50
Laparoscopic sleeve gastrectomy with duodeno-jejunal bypass for morbid obesity in a patient with situs inversus totalis. ( 27140835 )
2016

Variations for Situs Inversus

Expression for Situs Inversus

Search GEO for disease gene expression data for Situs Inversus.

Pathways for Situs Inversus

GO Terms for Situs Inversus

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.96 ARL2BP CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1
2 microtubule GO:0005874 9.8 DNAH11 DNAH5 DNAI1 DNAI2 INVS
3 cell projection GO:0042995 9.73 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11
4 axoneme GO:0005930 9.7 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI2
5 dynein complex GO:0030286 9.62 DNAH11 DNAH5 DNAI1 DNAI2
6 outer dynein arm GO:0036157 9.54 DNAH5 DNAI1 DNAI2
7 cilium GO:0005929 9.36 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11
8 cytoplasm GO:0005737 10.21 ARL2BP CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.86 CCDC39 DNAH11 DNAI1 NODAL
2 cilium assembly GO:0060271 9.85 CFAP53 DNAAF1 DNAH5 DNAI2
3 lung development GO:0030324 9.84 CCDC39 CCDC40 DNAAF1 NODAL
4 heart looping GO:0001947 9.81 CCDC39 CCDC40 DNAAF1 NODAL
5 flagellated sperm motility GO:0030317 9.72 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
6 motile cilium assembly GO:0044458 9.71 CCDC39 CCDC40 DNAAF1 RSPH9
7 inner dynein arm assembly GO:0036159 9.7 CCDC39 CCDC40 DNAAF1
8 axonemal dynein complex assembly GO:0070286 9.67 CCDC39 CCDC40 DNAAF1
9 outer dynein arm assembly GO:0036158 9.67 DNAAF1 DNAH5 DNAI1 DNAI2
10 determination of liver left/right asymmetry GO:0071910 9.65 CCDC39 CCDC40 DNAAF1
11 determination of digestive tract left/right asymmetry GO:0071907 9.63 CCDC39 CCDC40 DNAAF1
12 determination of pancreatic left/right asymmetry GO:0035469 9.61 CCDC39 CCDC40 DNAAF1
13 axoneme assembly GO:0035082 9.58 CCDC40 RSPH9
14 epithelial cilium movement GO:0003351 9.57 CCDC40 DNAI1
15 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.56 CCDC39 CCDC40 CFAP53 DNAAF1
16 determination of left/right symmetry GO:0007368 9.5 CCDC39 CFAP53 DNAH11 DNAH5 DNAI1 DNAI2
17 regulation of cilium beat frequency GO:0003356 9.46 CCDC39 CCDC40 DNAAF1 DNAH11
18 cilium movement GO:0003341 9.28 CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11 DNAH5

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

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 9.43 DNAH11 DNAH5
2 dynein intermediate chain binding GO:0045505 9.4 DNAH11 DNAH5
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.37 DNAI1 DNAI2
4 microtubule motor activity GO:0003777 9.33 DNAH11 DNAH5 DNAI2
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH11 DNAH5
6 dynein heavy chain binding GO:0045504 9.26 DNAI1 DNAI2
7 motor activity GO:0003774 9.26 DNAH11 DNAH5 DNAI1 DNAI2
8 dynein light chain binding GO:0045503 8.92 DNAH11 DNAH5 DNAI1 DNAI2

Sources for Situs Inversus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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