SIV
MCID: STS002
MIFTS: 46

Situs Inversus (SIV) malady

Categories: Rare diseases

Aliases & Classifications for Situs Inversus

Aliases & Descriptions 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 dextrocardia with situs inversus and ciliary dyskinesia, primary, 1, with or without 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 growth/size/body region and cellular

Wikipedia : 71 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 261)
id Related Disease Score Top Affiliating Genes
1 dextrocardia with situs inversus 12.5
2 ciliary dyskinesia, primary, 1, with or without situs inversus 12.3
3 ciliary dyskinesia, primary, 3, with or without situs inversus 12.3
4 ciliary dyskinesia, primary, 9, with or without situs inversus 12.3
5 ciliary dyskinesia, primary, 7, with or without situs inversus 12.3
6 retinitis pigmentosa with or without situs inversus 12.3
7 hypoglossia with situs inversus hypoglossia, isolated, included 12.2
8 chondrodysplasia situs inversus imperforate anus polydactyly 12.1
9 aglossia and situs inversus 12.0
10 jeune syndrome situs inversus 12.0
11 situs inversus totalis with cystic dysplasia of kidneys and pancreas 12.0
12 kartagener syndrome 11.8
13 isolated levocardia 11.8
14 ciliary dyskinesia, primary, 18 11.7
15 ciliary dyskinesia, primary, 23 11.7
16 ciliary dyskinesia, primary, 5 11.7
17 levocardia 11.7
18 agnathia-otocephaly complex 11.7
19 ciliary dyskinesia, primary, 28 11.7
20 ciliary dyskinesia, primary, 19 11.7
21 ciliary dyskinesia, primary, 27 11.7
22 ciliary dyskinesia, primary, 10 11.7
23 ciliary dyskinesia, primary, 16 11.7
24 ciliary dyskinesia, primary, 25 11.7
25 ciliary dyskinesia, primary, 17 11.7
26 ciliary dyskinesia, primary, 20 11.7
27 ciliary dyskinesia, primary, 26 11.7
28 primary ciliary dyskinesia 35 11.7
29 ciliary dyskinesia, primary, 21 11.6
30 ciliary dyskinesia, primary, 22 11.6
31 ciliary dyskinesia, primary, 14 11.6
32 ciliary dyskinesia, primary, 29 11.6
33 ciliary dyskinesia, primary, 12 11.6
34 ciliary dyskinesia, primary, 11 11.6
35 ciliary dyskinesia, primary, 13 11.6
36 ciliary dyskinesia, primary, 15 11.6
37 ciliary dyskinesia, primary, 30 11.6
38 ciliary dyskinesia, primary, 2 11.6
39 ciliary dyskinesia, primary, 24 11.6
40 heterotaxy, visceral, 5 11.6
41 heterotaxy, visceral, 1, x-linked 11.6
42 visceral heterotaxy 11.6
43 dextrocardia 11.5
44 ciliary dyskinesia, primary, 4 11.5
45 swine influenza 11.4
46 right atrial isomerism 11.2
47 ciliary dyskinesia, primary, 6 11.0
48 nephronophthisis 20 11.0
49 ciliary dyskinesia, primary, 32 11.0
50 primary ciliary dyskinesia 33 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 growth/size/body region MP:0005378 10.07 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1 DNAI2
2 cellular MP:0005384 10.03 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1 DNAI2
3 mortality/aging MP:0010768 9.91 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
4 craniofacial MP:0005382 9.88 CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1 NODAL
5 liver/biliary system MP:0005370 9.72 CCDC39 DNAH11 DNAH5 INVS NODAL
6 respiratory system MP:0005388 9.56 CCDC40 DNAH11 DNAH5 DNAI1 DNAI2 INVS
7 renal/urinary system MP:0005367 9.55 CCDC39 CCDC40 DNAH11 DNAH5 INVS
8 skeleton MP:0005390 9.17 NODAL CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1

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 33)
id Name Status NCT ID Phase
1 Water Immersion in Right-Sided Heart Failure: A Pilot Study Completed NCT00654264 Phase 4
2 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2
3 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Recruiting NCT02871778 Phase 2
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 Evaluation of Monitoring TECHNOlogies in the PERI-OPerative Care of Cardiac Surgical Patients Completed NCT02658006
12 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
13 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
14 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
15 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
16 Non-invasive Assessment of Liver Stiffness/Fibrosis by Transient Elastography (Fibroscan) in Patients With Left and/or Right Sided Heart Failure Completed NCT00777725
17 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
18 Fibrosis, Valvular and Ventricular Function in Patients With TGA Recruiting NCT02588989
19 Cardiovascular MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young Adults Recruiting NCT02415491
20 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
21 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Recruiting NCT02119442
22 Portal Flow Pulsatility as a Risk Factor for Acute Kidney Injury After Cardiac Surgery Recruiting NCT02831907
23 Open Lung Strategy in Critically Ill Morbid Obese Patients Recruiting NCT02503241
24 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
25 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
26 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
27 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
28 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
29 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
30 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
31 Late Function After Surgery for Transposition of the Great Arteries Enrolling by invitation NCT03078413
32 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
33 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 745)
id Title Authors Year
1
Images in Anesthesiology: Mirror Image: A Patient with Situs Inversus Totalis. ( 27977454 )
2017
2
Double-balloon enteroscopy-assisted ERCP in situs inversus with Roux-en-Y hepaticojejunostomy for complex anastomotic stricture dilated with Soehendra stent retriever. ( 28068702 )
2017
3
Cholecystitis in situs inversus totalis. ( 28513106 )
2017
4
Coexisting Situs Inversus Totalis and Immune Thrombocytopenic Purpura. ( 26981307 )
2016
5
ST-Elevation Myocardial Infarction in Situs Inversus Dextrocardia: A Case Report. ( 28042584 )
2016
6
Liver Transplantation in an Adult Recipient With Situs Inversus Totalis: Case Report and Review of the Literature. ( 27932172 )
2016
7
Pulmonary vein and cavotricuspid isthmus ablation in situs inversus totalis. ( 26862406 )
2016
8
Laparoscopic Sleeve Gastrectomy in Situs Inversus Totalis: a Case Report and Comprehensive Literature Review. ( 27303123 )
2016
9
Thymoma Complicated by Situs Inversus Totalis. ( 26831245 )
2016
10
Our experience with surgery in situs inversus: Open peptic perforation repair and laparoscopic cholecystectomy in 1 patient and 3 patients respectively. ( 27810609 )
2016
11
PERFORATED DUODENAL ULCER ASSOCIATED WITH SITUS INVERSUS AND DEXTROCARDIA. ( 27323596 )
2016
12
Anesthetic Management of a Patient with Situs Inversus for Bilateral Orthotopic Lung Transplantation. ( 27179614 )
2016
13
Minimally invasive mitral valve repair in situs inversus totalis. ( 27862312 )
2016
14
Situs inversus totalis with a mature teratoma of the posterior mediastinum: A case report. ( 26893706 )
2016
15
Lung cancer mimicking aortic dissecting aneurysm in a patient with situs inversus totalis. ( 27042231 )
2016
16
Robotic atrial septal defect closure and tricuspid annuloplasty in a case of situs inversus totalis with dextrocardia. ( 27344445 )
2016
17
Reno- and splenoportal anastomosis for a retransplant patient with situs inversus. ( 27029560 )
2016
18
Nephrotic syndrome and situs inversus--A chance association? ( 26787592 )
2016
19
A patient with situs inversus totalis and lung cancer-a rare combination. ( 27999784 )
2016
20
Percutaneous Endoscopic Gastrostomy in Situs Inversus Totalis. ( 27981935 )
2016
21
Transcatheter aortic valve replacement for severe aortic stenosis in dextrocardia with situs inversus: First reported case in the United States. ( 26889599 )
2016
22
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis. ( 27060491 )
2016
23
Single-Incision Multi-Port Appendectomy for a Patient with Situs Inversus Totalis: First case report. ( 27226919 )
2016
24
Hand-Assisted Laparoscopic Donor Nephrectomy in Complete Situs Inversus. ( 27579434 )
2016
25
Successful endoscopic papillectomy in patient with situs inversus. ( 27028844 )
2016
26
Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report. ( 27896168 )
2016
27
Triple vessel percutaneous coronary intervention in a patient with situs inversus dextrocardia using a transradial approach. ( 27751321 )
2016
28
Thoracoscopic esophagectomy for esophageal cancer with situs inversus totalis: a case report and literature review. ( 26984287 )
2016
29
Repair of Posterior Infarct Ventricular Septal Defect in a Patient with Dextrocardia and Situs Inversus. ( 26785697 )
2016
30
Does situs inversus totalis preclude liver donation in living donor liver transplantation? A series of 3 cases from single institution. ( 26895114 )
2016
31
Hand-assisted robotic right donor nephrectomy in patient with total situs inversus: A case report. ( 27085108 )
2016
32
Myocardial Perfusion SPECT Imaging in Dextrocardia with Situs Inversus: A Case Report. ( 27408900 )
2016
33
Off-Pump Triple Coronary Artery Bypass Grafting in a Patient with Situs Inversus Totalis: Case Presentation and a Brief Review of the Brazilian and the International Experiences. ( 27556323 )
2016
34
Co-existence of cecal volvulus with situs inversus totalis: A case report. ( 27857996 )
2016
35
Laparoscopic sleeve gastrectomy on a morbidly obese patient with situs inversus totalis: A case study and systematic review of the literature. ( 28034698 )
2016
36
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
37
An extremely rare case: Laparoscopic adrenalectomy in a patient with situs inversus totalis. ( 27251840 )
2016
38
Situs Inversus Totalis: Single-Stage Anatomic Repair of Complex Congenital Heart Disease. ( 27881809 )
2016
39
Prune Belly Syndrome with Situs Inversus Abdominus. ( 27433456 )
2016
40
Laparoscopic sleeve gastrectomy with duodeno-jejunal bypass for morbid obesity in a patient with situs inversus totalis. ( 27140835 )
2016
41
Preduodenal Portal Vein with Situs Inversus Totalis causing Duodenal Obstruction. ( 27398325 )
2016
42
A fatal combination of situs inversus, pregnancy and cardiac arrest treated with an automated external defibrillator. ( 27216402 )
2016
43
Successful cryoballoon pulmonary vein isolation in a patient with situs inversus and dextrocardia. ( 27920836 )
2016
44
Successful Obstetric Outcome in Dextrocardia with Situs Inversus and Moderate Pulmonary Hypertension- Rare Case. ( 27891408 )
2016
45
Minimally invasive Mckeown esophagectomy with modified three-field lymphadenectomy in case of situs inversus totalis with carcinoma mid esophagus. ( 26917923 )
2016
46
Laparoscopic stomach intestinal pylorus sparing surgery in a patient with morbid obesity and situs inversus: first video case report. ( 27865811 )
2016
47
Congenitally Corrected Transposition of the Great Arteries and Situs Inversus in an Octogenarian With Systemic Right Ventricular Failure. ( 27818476 )
2016
48
Percutaneous Mitral Valvotomy in a Case of Situs Inversus Totalis and Juvenile Rheumatic Critical Mitral Stenosis: Case Report. ( 26985259 )
2016
49
Mirror Image: A Patient with Situs Inversus Totalis. ( 27466031 )
2016
50
Implantable cardioverter-defibrillator in a patient with dextrocardia situs inversus. ( 27999649 )
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 9.97 ARL2BP CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1
2 microtubule GO:0005874 9.8 DNAH11 DNAH5 DNAI1 DNAI2 INVS
3 cell projection GO:0042995 9.7 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11
4 dynein complex GO:0030286 9.67 DNAH11 DNAH5 DNAI1 DNAI2
5 axoneme GO:0005930 9.55 CCDC39 CCDC40 DNAAF1 DNAH5 DNAI2
6 axonemal dynein complex GO:0005858 9.43 DNAH5 DNAI2
7 outer dynein arm GO:0036157 9.43 DNAH5 DNAI1 DNAI2
8 cilium GO:0005929 9.32 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF1 DNAH11
9 cytoplasm GO:0005737 10.2 ARL2BP CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.92 CCDC39 DNAH11 DNAH5 DNAI1 NODAL
2 cilium assembly GO:0060271 9.86 CFAP53 DNAAF1 DNAH5 DNAI2
3 lung development GO:0030324 9.84 CCDC39 CCDC40 DNAAF1 NODAL
4 heart looping GO:0001947 9.8 CCDC39 CCDC40 DNAAF1 NODAL
5 flagellated sperm motility GO:0030317 9.77 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
6 motile cilium assembly GO:0044458 9.72 CCDC39 CCDC40 DNAAF1
7 inner dynein arm assembly GO:0036159 9.69 CCDC39 CCDC40 DNAAF1
8 axonemal dynein complex assembly GO:0070286 9.65 CCDC39 CCDC40 DNAAF1
9 determination of liver left/right asymmetry GO:0071910 9.63 CCDC39 CCDC40 DNAAF1
10 outer dynein arm assembly GO:0036158 9.62 DNAAF1 DNAH5 DNAI1 DNAI2
11 determination of digestive tract left/right asymmetry GO:0071907 9.61 CCDC39 CCDC40 DNAAF1
12 determination of pancreatic left/right asymmetry GO:0035469 9.58 CCDC39 CCDC40 DNAAF1
13 epithelial cilium movement GO:0003351 9.57 CCDC40 DNAI1
14 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.56 CCDC39 CCDC40 CFAP53 DNAAF1
15 determination of left/right symmetry GO:0007368 9.5 CCDC39 CFAP53 DNAH11 DNAH5 DNAI1 DNAI2
16 regulation of cilium beat frequency GO:0003356 9.46 CCDC39 CCDC40 DNAAF1 DNAH11
17 cilium movement GO:0003341 9.23 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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