SIV
MCID: STS002
MIFTS: 44

Situs Inversus (SIV)

Categories: Rare diseases

Aliases & Classifications for Situs Inversus

MalaCards integrated aliases for Situs Inversus:

Name: Situs Inversus 12 20 54 6 44 15 32
Situs Inversus Viscerum 12 20
Complete Transposition 12
Laterality Sequence 12
Siv 20

Classifications:



External Ids:

Disease Ontology 12 DOID:758
ICD9CM 34 759.3
MeSH 44 D012857
NCIt 50 C87121
SNOMED-CT 67 157033002
ICD10 32 Q89.3
UMLS 70 C0037221

Summaries for Situs Inversus

GARD : 20 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.

MalaCards based summary : Situs Inversus, also known as situs inversus viscerum, is related to dextrocardia with situs inversus and ciliary dyskinesia, primary, 13. An important gene associated with Situs Inversus is DNAH7 (Dynein Axonemal Heavy Chain 7). The drugs Nitric Oxide and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are cellular and growth/size/body region

Wikipedia : 73 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 705)
# Related Disease Score Top Affiliating Genes
1 dextrocardia with situs inversus 33.2 MNS1 DNAH9 CFAP53 CCDC103
2 ciliary dyskinesia, primary, 13 32.4 RSPH9 RSPH4A DNAAF2 CCDC40
3 ciliary dyskinesia, primary, 9 32.4 RSPH9 RSPH4A NPHP3 DNAI2 DNAAF2
4 ciliary dyskinesia, primary, 2 32.4 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11 DNAAF2
5 dextrocardia 32.3 ODAD3 DNAI1 DNAH5 DNAH11 CFAP53 CCDC40
6 ciliary dyskinesia, primary, 10 32.3 RSPH9 RSPH4A NPHP3 DNAI2 DNAAF2
7 ciliary dyskinesia, primary, 6 32.2 RSPH9 RSPH4A
8 ciliary dyskinesia, primary, 4 32.1 ODAD3 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
9 nephronophthisis 16 32.0 NPHP3 INVS
10 nephronophthisis 14 32.0 NPHP3 INVS
11 ciliary dyskinesia, primary, 8 31.8 ODAD3 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
12 right atrial isomerism 31.7 INVS DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
13 dextro-looped transposition of the great arteries 31.6 DNAI1 DNAH5 DNAH11
14 ciliary dyskinesia, primary, 1 31.1 RSPH9 RSPH4A ODAD3 DNAI2 DNAI1 DNAH9
15 infertility 30.6 MNS1 DNAI1 DNAH5 DNAH11 CCDC39
16 male infertility 30.4 MNS1 DNAI1 DNAH9 DNAH5 DNAH11 CCDC40
17 bronchiectasis 30.4 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAH11
18 infantile nephronophthisis 30.4 NPHP3 INVS
19 caroli disease 30.4 NPHP3 INVS
20 renal-hepatic-pancreatic dysplasia 30.2 NPHP3 INVS
21 visceral heterotaxy 30.1 RSPH9 RSPH4A ODAD4 ODAD3 NPHP3 MNS1
22 kartagener syndrome 30.0 RSPH9 RSPH4A ODAD4 ODAD3 NPHP3 MNS1
23 asphyxiating thoracic dystrophy 30.0 NPHP3 LZTFL1 INVS
24 primary ciliary dyskinesia 29.9 RSPH9 RSPH4A ODAD4 ODAD3 NPHP3 MNS1
25 retinitis pigmentosa 29.2 RSPH9 RSPH4A NPHP3 LZTFL1 INVS DNAI2
26 retinitis pigmentosa 82 with or without situs inversus 11.7
27 ciliary dyskinesia, primary, 3 11.7
28 heterotaxy, visceral, 5, autosomal 11.7
29 ciliary dyskinesia, primary, 7 11.7
30 ciliary dyskinesia, primary, 28 11.7
31 ciliary dyskinesia, primary, 5 11.7
32 ciliary dyskinesia, primary, 18 11.7
33 ciliary dyskinesia, primary, 23 11.7
34 ciliary dyskinesia, primary, 20 11.6
35 ciliary dyskinesia, primary, 40 11.6
36 ciliary dyskinesia, primary, 16 11.6
37 ciliary dyskinesia, primary, 17 11.6
38 ciliary dyskinesia, primary, 19 11.6
39 ciliary dyskinesia, primary, 25 11.6
40 ciliary dyskinesia, primary, 26 11.6
41 ciliary dyskinesia, primary, 27 11.6
42 isolated levocardia 11.6
43 ciliary dyskinesia, primary, 35 11.6
44 ciliary dyskinesia, primary, 29 11.6
45 agnathia-otocephaly complex 11.6
46 ciliary dyskinesia, primary, 11 11.6
47 ciliary dyskinesia, primary, 12 11.6
48 ciliary dyskinesia, primary, 14 11.6
49 ciliary dyskinesia, primary, 15 11.6
50 ciliary dyskinesia, primary, 21 11.6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
2 growth/size/body region MP:0005378 10.16 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
3 cardiovascular system MP:0005385 10.14 CCDC39 CFAP53 DNAAF2 DNAH11 DNAH5 DNAI1
4 mortality/aging MP:0010768 10 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11
5 craniofacial MP:0005382 9.87 CCDC39 DNAH11 DNAH5 DNAI1 NPHP3 ODAD3
6 nervous system MP:0003631 9.77 ARL2BP CCDC39 CCDC40 CFAP53 DNAAF2 DNAH5
7 respiratory system MP:0005388 9.44 CCDC39 CCDC40 CFAP53 DNAAF2 DNAH11 DNAH5

Drugs & Therapeutics for Situs Inversus

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2 Respiratory System Agents Phase 3
3 Anti-Asthmatic Agents Phase 3
4 Vasodilator Agents Phase 3
5 Antioxidants Phase 3
6 Protective Agents Phase 3
7 Neurotransmitter Agents Phase 3
8 Endothelium-Dependent Relaxing Factors Phase 3
9 Bronchodilator Agents Phase 3
10
Mechlorethamine Approved, Investigational 51-75-2 4033
11 3-Iodobenzylguanidine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial of Nitric Oxide Administration During Cardiopulmonary Bypass in Infants Undergoing Arterial Switch Operation for Repair of Transposition of the Great Arteries Recruiting NCT03661385 Phase 3 Nitric Oxide
2 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Unknown status NCT03469843
3 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
4 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
5 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
6 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
7 A Retrospective Comparison of the Efficacy and Safety of Celsior® in Pediatric Cardiac Surgery for Transposition of the Great Vessels Recruiting NCT04616222 CELSIOR® group;Saint-Thomas group
8 Clinical Impact of Rapid Prototyping 3D Models of Congenital Heart Disease on Surgical Management Withdrawn NCT04788082

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:

40
Heart, Kidney, Liver, Spleen, Colon, Pancreas, Lung

Publications for Situs Inversus

Articles related to Situs Inversus:

(show top 50) (show all 2732)
# Title Authors PMID Year
1
Situs inversus in association with duodenal atresia. 20 61
24192475 2013
2
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 54 61
18218308 2008
3
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 54 61
12872123 2003
4
Cardiopulmonary malformations in the inv/inv mouse. 54 61
11331972 2001
5
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 61 54
11231901 2001
6
The first case of balloon-occluded retrograde transvenous obliteration and partial splenic embolization for gastric varices in situs inversus abdominus. 61
33403531 2021
7
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. 61
33547761 2021
8
Left non-recurrent inferior laryngeal nerve in a patient with right-sided aortic arch and aberrant left subclavian artery. 61
32178945 2021
9
Robotic-assisted total gastrectomy in a patient with gastric cancer associated with situs inversus totalis: With video. 61
32875706 2021
10
Robotic-assisted surgery for rectal cancer with situs inversus totalis: A case report. 61
33797194 2021
11
Acute coronary syndrome in Dextrocardia. 61
32933811 2021
12
Successful detection of covert paroxysmal atrial fibrillation due to insertable cardiac monitor in embolic stroke of undetermined source in a patient with situs inversus totalis. 61
33768885 2021
13
Laparoscopic Distal Gastrectomy for Synchronous Gastric Cancer and Gastrointestinal Stromal Tumor With Situs Inversus Totalis. 61
33622883 2021
14
The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient. 61
33403504 2021
15
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum. 61
33655537 2021
16
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. 61
33806565 2021
17
Anesthetic management of a patient with situs inversus totalis undergoing coronary artery bypass grafting surgery: a case report. 61
33782777 2021
18
Left-sided appendicitis due to situs inversus totalis. 61
33768941 2021
19
A Systematic Review of Laparoscopic Cholecystectomy in Situs Inversus. 61
31164015 2021
20
Double rarity: malignant masquerade biliary stricture in a situs inversus totalis patient. 61
33743673 2021
21
Pure Laparoscopic Anatomic Right Hemihepatectomy for Hepatocellular Carcinoma with Situs Inversus Totalis Using Indocyanine Green Fluorescence Staining (with Video). 61
33615392 2021
22
ASO Author Reflections: A New Minimally Invasive Procedure for Hepatocellular Carcinoma with Situs Inversus Totalis. 61
33620618 2021
23
Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia. 61
33670529 2021
24
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia. 61
33610189 2021
25
Catheter ablation of atrial fibrillation in situs inversus dextrocardia: Challenge, improved procedure, outcomes, and literature review. 61
33372281 2021
26
Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations. 61
33589394 2021
27
Characteristics and outcomes of fetuses with laterality defects are the current outcomes better? A single center study. 61
31106637 2021
28
Situs Inversus Totalis in the Neonatal Setting. 61
33654643 2021
29
Laparoscopic resection of a descending colon tumour in a patient with situs inversus and variant vascular anatomy - a video vignette. 61
33140900 2021
30
Successful Catheter Ablation for Multiple Atrial Arrhythmias in a Patient with Situs Inversus Totalis. 61
33028769 2021
31
Right paraesophageal hiatus hernia associated with complete situs inversus. 61
32354490 2021
32
Intraductal papillary neoplasm of the bile duct with situs inversus: a rare disease with a rare anatomical anomaly. 61
33634575 2021
33
A Huge Ovarian Mucinous Cystadenoma in a 15-Year-Old Girl with Situs Inversus Totalis: Report of a Rare Case. 61
32688052 2021
34
Successful removal of multiple bile duct stones using a papillary large balloon dilation in a very elderly woman with situs inversus totalis. 61
32772241 2021
35
Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia. 61
32447765 2021
36
Routine pre-employment echocardiography assessment in young adults: cost and benefits. 61
33409841 2021
37
Nasopharyngeal carcinoma in a child with Kartagener`s syndrome. 61
33686839 2021
38
A 2-Year-Old Boy With Hypoxemia, Pulmonary Hypertension, and Digital Clubbing. 61
33422240 2021
39
Total minimally invasive McKeown esophagectomy in an esophageal cancer patient with situs inversus totalis: A case report. 61
33155374 2021
40
Use of a covered self-expanding metal airway stent for severe dynamic collapse within a bronchial aortic graft conduit in a post-lung transplant patient. 61
33786302 2021
41
A case report of pulmonary artery sling and situs inversus incompletes. 61
33545997 2021
42
Upgrading from a Dual-chamber Pacemaker to a Cardiac Resynchronization Therapy Defibrillator in Situs Inversus Totalis with Dextrocardia Following Mitral Valve Replacement and Tricuspid Annuloplasty Using a Left-sided Approach. 61
33520351 2021
43
Transverse colon cancer with obstruction in a patient with situs inversus totalis: A case report and review of literature. 61
32994114 2020
44
Performing Endoscopic Retrograde Cholagiopancreatpgraphy and Endoscopic Ultrasound for Management of Malignant Bile Duct Obstruction in a Patient With a Situs Inversus Totalis. 61
33324708 2020
45
Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia. 61
33174003 2020
46
Prenatal Diagnosis of Isolated Atrioventricular Discordance and Ventriculoarterial Concordance and Double-Outlet Right Ventricle in Situs Inversus: Case Report and Review of the Literature. 61
32970245 2020
47
Vallecular cyst: a dangerous cause of failure to thrive in infants. 61
33334753 2020
48
Catheter ablation of the atrioventricular node slow pathway sans fluoroscopy in a patient with situs inversus totalis. 61
33365251 2020
49
Operative Challenges with Minimally Invasive McKeown Esophagostomy with Two-Field Lymphadenectomy in a Case of Situs Inversus Totalis with Carcinoma Esophagus: A Case Report with Review of the Literature. 61
33299283 2020
50
Successful Radiofrequency Ablation of Recurrent Supraventricular Tachycardia in a Patient with Complex Congenital Heart Disease. 61
33262322 2020

Variations for Situs Inversus

ClinVar genetic disease variations for Situs Inversus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH7 NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) SNV Pathogenic 599650 rs114621989 GRCh37: 2:196602773-196602773
GRCh38: 2:195738049-195738049
2 DNAH7 NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) SNV Pathogenic 599649 rs770861172 GRCh37: 2:196722306-196722306
GRCh38: 2:195857582-195857582

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 RSPH9 RSPH4A ODAD4 ODAD3 LZTFL1 INVS
2 extracellular region GO:0005576 10.22 ODAD4 NPHP3 DNAI1 DNAH5 DNAH11 DNAAF2
3 cytoskeleton GO:0005856 10.22 RSPH9 RSPH4A ODAD4 ODAD3 INVS DNAI2
4 microtubule GO:0005874 10 INVS DNAI2 DNAI1 DNAH9 DNAH7 DNAH5
5 motile cilium GO:0031514 9.98 RSPH9 RSPH4A MNS1 DNAH9 DNAH5 DNAH11
6 axoneme GO:0005930 9.93 RSPH9 RSPH4A ODAD4 ODAD3 MNS1 DNAI2
7 cilium GO:0005929 9.86 RSPH9 RSPH4A ODAD3 NPHP3 INVS DNAI2
8 dynein complex GO:0030286 9.8 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
9 9+2 motile cilium GO:0097729 9.8 RSPH9 ODAD4 DNAI2 DNAI1 DNAH9 DNAH5
10 outer dynein arm GO:0036157 9.77 DNAI2 DNAI1 DNAH9 DNAH5 CCDC103
11 axonemal dynein complex GO:0005858 9.67 DNAI2 DNAH7 DNAH5
12 cell projection GO:0042995 9.55 RSPH9 RSPH4A ODAD4 ODAD3 NPHP3 INVS
13 radial spoke GO:0001534 9.51 RSPH9 RSPH4A

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 10 RSPH9 RSPH4A ODAD3 DNAI2 DNAI1 DNAH9
2 heart development GO:0007507 9.99 ODAD4 DNAI1 DNAH5 DNAH11 CCDC39
3 cilium assembly GO:0060271 9.99 RSPH9 RSPH4A NPHP3 DNAI2 DNAH5 CFAP53
4 microtubule-based movement GO:0007018 9.91 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11
5 lung development GO:0030324 9.88 ODAD4 NPHP3 CCDC40 CCDC39
6 flagellated sperm motility GO:0030317 9.88 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
7 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.87 ODAD4 NPHP3 DNAH11 CFAP53 CCDC40 CCDC39
8 heart looping GO:0001947 9.86 NPHP3 CCDC40 CCDC39 CCDC103
9 axonemal dynein complex assembly GO:0070286 9.8 ODAD3 DNAAF2 CCDC40 CCDC39 CCDC103
10 outer dynein arm assembly GO:0036158 9.8 ODAD4 ODAD3 DNAI2 DNAI1 DNAH5 DNAAF2
11 motile cilium assembly GO:0044458 9.77 RSPH9 CCDC40 CCDC39
12 inner dynein arm assembly GO:0036159 9.77 DNAH7 DNAAF2 CCDC40 CCDC39 CCDC103
13 axoneme assembly GO:0035082 9.75 RSPH9 RSPH4A CCDC40
14 cilium-dependent cell motility GO:0060285 9.74 DNAH7 DNAAF2 CCDC39
15 regulation of cilium beat frequency GO:0003356 9.72 DNAH11 CCDC40 CCDC39
16 determination of liver left/right asymmetry GO:0071910 9.71 NPHP3 CCDC40 CCDC39
17 determination of digestive tract left/right asymmetry GO:0071907 9.7 CCDC40 CCDC39 CCDC103
18 epithelial cilium movement GO:0003351 9.7 DNAI1 DNAH5 DNAH11 DNAAF2 CCDC40 CCDC39
19 determination of pancreatic left/right asymmetry GO:0035469 9.67 NPHP3 CCDC40 CCDC39
20 cilium movement involved in cell motility GO:0060294 9.62 RSPH9 RSPH4A
21 cerebrospinal fluid circulation GO:0090660 9.62 ODAD4 CCDC39
22 establishment of localization in cell GO:0051649 9.61 DNAH5 CCDC39
23 establishment of left/right asymmetry GO:0061966 9.61 DNAAF2 CCDC39
24 determination of left/right symmetry GO:0007368 9.61 ODAD3 NPHP3 DNAI2 DNAI1 DNAH5 DNAH11
25 cilium movement GO:0003341 9.47 RSPH9 RSPH4A ODAD4 ODAD3 DNAI2 DNAI1

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.62 DNAH9 DNAH7 DNAH5 DNAH11
2 dynein light intermediate chain binding GO:0051959 9.56 DNAH9 DNAH7 DNAH5 DNAH11
3 microtubule motor activity GO:0003777 9.55 DNAI2 DNAH9 DNAH7 DNAH5 DNAH11
4 dynein heavy chain binding GO:0045504 9.4 DNAI2 DNAI1
5 dynein light chain binding GO:0045503 9.37 DNAI2 DNAI1
6 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.26 DNAH9 DNAH7 DNAH5 DNAH11
7 motor activity GO:0003774 9.1 DNAI2 DNAI1 DNAH9 DNAH7 DNAH5 DNAH11

Sources for Situs Inversus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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