MCID: STS002
MIFTS: 45

Situs Inversus

Categories: Rare diseases

Aliases & Classifications for Situs Inversus

MalaCards integrated aliases for Situs Inversus:

Name: Situs Inversus 12 50 52 42 14
Situs Inversus Viscerum 12 50
Complete Transposition 12
Laterality Sequence 12
Siv 50

Classifications:



External Ids:

Disease Ontology 12 DOID:758
ICD10 33 Q89.3
ICD9CM 35 759.3
MeSH 42 D012857
NCIt 47 C87121
UMLS 69 C0037221

Summaries for Situs Inversus

NIH Rare Diseases : 50 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 keratoconus and dextrocardia with situs inversus. An important gene associated with Situs Inversus is DNAI1 (Dynein Axonemal Intermediate Chain 1). The drugs Pharmaceutical Solutions and Nitric Oxide 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

Wikipedia : 72 Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major... more...

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 262)
id Related Disease Score Top Affiliating Genes
1 keratoconus 25.3 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
2 dextrocardia with situs inversus 12.6
3 ciliary dyskinesia, primary, 1, with or without situs inversus 12.3
4 ciliary dyskinesia, primary, 3, with or without situs inversus 12.3
5 ciliary dyskinesia, primary, 9, with or without situs inversus 12.3
6 ciliary dyskinesia, primary, 7, with or without situs inversus 12.3
7 retinitis pigmentosa with or without situs inversus 12.3
8 hypoglossia with situs inversus 12.2
9 chondrodysplasia situs inversus imperforate anus polydactyly 12.2
10 aglossia and situs inversus 12.1
11 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.0
12 jeune syndrome situs inversus 11.9
13 isolated levocardia 11.8
14 kartagener syndrome 11.8
15 ciliary dyskinesia, primary, 18 11.7
16 ciliary dyskinesia, primary, 23 11.7
17 ciliary dyskinesia, primary, 5 11.7
18 levocardia 11.7
19 agnathia-otocephaly complex 11.7
20 ciliary dyskinesia, primary, 28 11.7
21 ciliary dyskinesia, primary, 19 11.7
22 ciliary dyskinesia, primary, 27 11.7
23 ciliary dyskinesia, primary, 10 11.7
24 ciliary dyskinesia, primary, 16 11.7
25 ciliary dyskinesia, primary, 25 11.7
26 ciliary dyskinesia, primary, 17 11.7
27 ciliary dyskinesia, primary, 20 11.7
28 ciliary dyskinesia, primary, 26 11.7
29 ciliary dyskinesia, primary, 35 11.7
30 ciliary dyskinesia, primary, 21 11.6
31 ciliary dyskinesia, primary, 22 11.6
32 ciliary dyskinesia, primary, 14 11.6
33 ciliary dyskinesia, primary, 29 11.6
34 ciliary dyskinesia, primary, 12 11.6
35 ciliary dyskinesia, primary, 11 11.6
36 ciliary dyskinesia, primary, 13 11.6
37 ciliary dyskinesia, primary, 15 11.6
38 ciliary dyskinesia, primary, 30 11.6
39 ciliary dyskinesia, primary, 2 11.6
40 ciliary dyskinesia, primary, 24 11.6
41 ciliary dyskinesia, primary, 36, x-linked 11.6
42 visceral heterotaxy 11.6
43 heterotaxy, visceral, 5 11.6
44 heterotaxy, visceral, 1, x-linked 11.6
45 dextrocardia 11.5
46 ciliary dyskinesia, primary, 4 11.5
47 swine influenza 11.4
48 right atrial isomerism 11.2
49 ciliary dyskinesia, primary, 6 11.0
50 nephronophthisis 20 11.0

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1 DNAI2
2 growth/size/body region MP:0005378 9.81 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1 DNAI2
3 craniofacial MP:0005382 9.73 CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1 NODAL
4 mortality/aging MP:0010768 9.61 DNAH5 DNAI1 INVS NODAL RSPH9 CCDC39
5 respiratory system MP:0005388 9.23 INVS NODAL CCDC39 CCDC40 DNAH11 DNAH5

Drugs & Therapeutics for Situs Inversus

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2
Nitric Oxide Approved 10102-43-9 145068
3
Menthol Approved 2216-51-5 16666
4
Dobutamine Approved 34368-04-2 36811
5
Mechlorethamine Approved 51-75-2 4033
6 Anti-Asthmatic Agents
7 Antioxidants
8 Autonomic Agents
9 Bronchodilator Agents
10 Endothelium-Dependent Relaxing Factors
11 Neurotransmitter Agents
12 Peripheral Nervous System Agents
13 Protective Agents
14 Respiratory System Agents
15 Vasodilator Agents
16 Liver Extracts

Interventional clinical trials:

(show all 37)

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

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:

39
Heart, Liver, Lung, Kidney, Colon, Pancreas, Spleen

Publications for Situs Inversus

Articles related to Situs Inversus:

(show top 50) (show all 769)
id Title Authors Year
1
Situs Inversus with Levocardia and Congenitally Corrected Transposition of Great Vessels in a 35 year old Male: A Case report. ( 28243408 )
2017
2
Robotic Assisted Distal Gastrectomy for Gastric Cancer in a Patient with Situs Inversus Totalis: with Video. ( 28900793 )
2017
3
Double-balloon enteroscopy-assisted ERCP in situs inversus with Roux-en-Y hepaticojejunostomy for complex anastomotic stricture dilated with Soehendra stent retriever. ( 28068702 )
2017
4
Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis. ( 28709112 )
2017
5
Video-assisted thoracic surgery and jejunal reconstruction in a case of situs inversus totalis with esophageal cancer. ( 28681978 )
2017
6
Dextrocardia With Situs Inversus and Levo-Transposition of Great Vessels. ( 28641729 )
2017
7
Laparoscopic total gastrectomy for advanced gastric cancer in a patient with situs inversus totalis. ( 28677888 )
2017
8
Congenital Duodenal Obstruction, Situs Inversus Totalis, and Gastric Perforation in a Neonate. ( 28770132 )
2017
9
A colovesical fistula with a persistent descending mesocolon due to partial situs inversus: A case report. ( 28654851 )
2017
10
Images in Anesthesiology: Mirror Image: A Patient with Situs Inversus Totalis. ( 27977454 )
2017
11
Cholecystitis in situs inversus totalis. ( 28513106 )
2017
12
Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature. ( 28918753 )
2017
13
VACTER syndrome with situs inversus totalis: Case report and a new syndrome. ( 28640129 )
2017
14
Situs inversus: When an incidental finding is not so incidental. ( 28670800 )
2017
15
How Do I Do a Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Situs Inversus Totalis. ( 28560525 )
2017
16
ERCP and Laparoscopic cholecystectomy in a patient with situs inversus totalis. ( 28651902 )
2017
17
Mandibular symphyseal midline distraction osteogenesis for micrognathia associated with aglossia and situs inversus totalis. ( 28610820 )
2017
18
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
19
Malignant Duodenal GIST in a Patient with Situs Inversus Totalis-a Rare Association and Brief Review of Literature. ( 28567619 )
2017
20
Pure laparoscopic right hepatectomy in a patient with situs inversus totalis: A case report. ( 28834914 )
2017
21
Left superior pulmonary vein connected to superior vena cava vein in a patient with situs inversus totalis: A challenging diagnosis. ( 28929519 )
2017
22
Laparoscopic cholecystectomy in a case of situs inversus totalis: a review of technical challenges and adaptations. ( 28567452 )
2017
23
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
24
Radiofrequency Pulmonary Vein Isolation in a Patient with Dextrocardia With Situs Inversus Totalis. ( 28462889 )
2017
25
Single-Incision Multi-Port Appendectomy for a Patient with Situs Inversus Totalis: First case report. ( 27226919 )
2016
26
Hand-assisted robotic right donor nephrectomy in patient with total situs inversus: A case report. ( 27085108 )
2016
27
A patient with situs inversus totalis and lung cancer-a rare combination. ( 27999784 )
2016
28
Successful cryoballoon pulmonary vein isolation in a patient with situs inversus and dextrocardia. ( 27920836 )
2016
29
Implantable cardioverter-defibrillator in a patient with dextrocardia situs inversus. ( 27999649 )
2016
30
Situs inversus totalis with a mature teratoma of the posterior mediastinum: A case report. ( 26893706 )
2016
31
Does situs inversus totalis preclude liver donation in living donor liver transplantation? A series of 3 cases from single institution. ( 26895114 )
2016
32
Transcatheter aortic valve replacement for severe aortic stenosis in dextrocardia with situs inversus: First reported case in the United States. ( 26889599 )
2016
33
Surgical repair of a ruptured sinus of Valsalva aneurysm in a patient with situs inversus totalis. ( 27678486 )
2016
34
Minimally invasive mitral valve repair in situs inversus totalis. ( 27862312 )
2016
35
Successful Obstetric Outcome in Dextrocardia with Situs Inversus and Moderate Pulmonary Hypertension- Rare Case. ( 27891408 )
2016
36
Congenitally Corrected Transposition of the Great Arteries and Situs Inversus in an Octogenarian With Systemic Right Ventricular Failure. ( 27818476 )
2016
37
Robotic atrial septal defect closure and tricuspid annuloplasty in a case of situs inversus totalis with dextrocardia. ( 27344445 )
2016
38
ST-Elevation Myocardial Infarction in Situs Inversus Dextrocardia: A Case Report. ( 28042584 )
2016
39
Situs Inversus Totalis: Single-Stage Anatomic Repair of Complex Congenital Heart Disease. ( 27881809 )
2016
40
Anesthetic Management of a Patient with Situs Inversus for Bilateral Orthotopic Lung Transplantation. ( 27179614 )
2016
41
Angiomyolipoma in a Patient with Situs Inversus Totalis: Managing Two Rare Diseases. ( 27525134 )
2016
42
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
43
A fatal combination of situs inversus, pregnancy and cardiac arrest treated with an automated external defibrillator. ( 27216402 )
2016
44
Pulmonary vein and cavotricuspid isthmus ablation in situs inversus totalis. ( 26862406 )
2016
45
Acute gastrointestinal manifestation of situs inversus abdominus. ( 27511377 )
2016
46
Coexisting Situs Inversus Totalis and Immune Thrombocytopenic Purpura. ( 26981307 )
2016
47
Hepatocellular Carcinoma with Hypersplenic Thrombocytopenia and Situs Inversus Totalis: A Case Report. ( 28031104 )
2016
48
Liver Transplantation in an Adult Recipient With Situs Inversus Totalis: Case Report and Review of the Literature. ( 27932172 )
2016
49
Lung cancer mimicking aortic dissecting aneurysm in a patient with situs inversus totalis. ( 27042231 )
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:

id 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 9.63 CCDC39 CCDC40 DNAAF1 DNAH5 DNAI2 RSPH9
5 dynein complex GO:0030286 9.62 DNAH11 DNAH5 DNAI1 DNAI2
6 outer dynein arm GO:0036157 9.54 DNAH5 DNAI1 DNAI2
7 axonemal dynein complex GO:0005858 9.46 DNAH5 DNAI2
8 cilium GO:0005929 9.36 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11
9 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)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.93 CCDC39 DNAH11 DNAH5 DNAI1 NODAL
2 cilium assembly GO:0060271 9.86 CFAP53 DNAAF1 DNAH5 DNAI2
3 lung development GO:0030324 9.85 CCDC39 CCDC40 DNAAF1 NODAL
4 heart looping GO:0001947 9.81 CCDC39 CCDC40 DNAAF1 NODAL
5 flagellated sperm motility GO:0030317 9.77 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 determination of liver left/right asymmetry GO:0071910 9.65 CCDC39 CCDC40 DNAAF1
10 determination of digestive tract left/right asymmetry GO:0071907 9.63 CCDC39 CCDC40 DNAAF1
11 outer dynein arm assembly GO:0036158 9.62 DNAAF1 DNAH5 DNAI1 DNAI2
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:

id Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.13 DNAH11 DNAH5 DNAI2
2 motor activity GO:0003774 8.92 DNAH11 DNAH5 DNAI1 DNAI2

Sources for Situs Inversus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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