SIV
MCID: STS002
MIFTS: 53

Situs Inversus (SIV) malady

Rare diseases category
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Summaries for Situs Inversus

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NIH Rare Diseases:42 Situs inversus is a condition in which the internal organs of the abdomen (stomach) and thorax (chest) lie in mirror image of their normal body position. it can occur alone, without any other anomalies, or it can be  a part of a syndrome with various other defects. situs inversus has been inherited in different ways in different families. autosomal dominant, autosomal recessive, and x-linked inheritance have been reported. treatment, when needed, is symptomatic and supportive. last updated: 11/13/2014

MalaCards based summary: Situs Inversus, also known as situs inversus viscerum, is related to kartagener syndrome and primary ciliary dyskinesia. An important gene associated with Situs Inversus is NODAL (nodal growth differentiation factor), and among its related pathways is Cytoplasmic microtubules. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Wikipedia:65 Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major... more...

Description from OMIM:46 270100

Aliases & Classifications for Situs Inversus

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Situs Inversus, Aliases & Descriptions:

Name: Situs Inversus 8 42 22 10 44
Situs Inversus Viscerum 8 42
Complete Transposition 8
 
Laterality Sequence 8
Siv 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology8 DOID:758
OMIM46 270100
ICD9CM27 759.3
MeSH34 D012857
NCIt39 C87121

Related Diseases for Situs Inversus

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

(show top 50)    (show all 270)
idRelated DiseaseScoreTop Affiliating Genes
1kartagener syndrome30.5DNAI1, DNAH5
2primary ciliary dyskinesia30.4DNAH11, DNAI2, DNAH5, DNAI1
3dextrocardia11.1
4dextrocardia with situs inversus10.9
5levocardia10.7
6duodenitis10.7
7transposition of the great arteries10.7
8pancreatitis10.6
9myocardial infarction10.6
10hiv-110.5
11duodenal obstruction10.5
12isolated levocardia10.5
13left ventricular outflow tract obstruction10.5
14congenitally corrected transposition of the great arteries10.5
15appendicitis10.5
16esophagitis10.5
17renal dysplasia10.5
18gastric cancer10.5
19hepatitis10.5
20obesity10.5
21polydactyly10.5
22biliary atresia10.5
23klippel-feil syndrome10.5
24swine influenza10.5
25hepatocellular carcinoma10.4
26sinusitis10.4
27kidney disease10.4
28chondrodysplasia situs inversus imperforate anus polydactyly10.4
29duodenal atresia10.4
30aneurysm10.4
31influenza10.4
32subpulmonary stenosis10.4
33bardet-biedl syndrome10.4
34double outlet right ventricle10.4
35polycystic kidney disease10.4
36esophageal atresia10.4
37adenocarcinoma10.4
38colon cancer10.4
39ventricular septal defect10.4
40visceral heterotaxy10.4
41aglossia and situs inversus10.4
42heterotaxy10.4
43jeune syndrome situs inversus10.4
44ciliary dyskinesia, primary, 3, with or without situs inversus10.4
45ciliary dyskinesia, primary, 7, with or without situs inversus10.4
46ciliary dyskinesia, primary, 1, with or without situs inversus10.4
47ciliary dyskinesia, primary, 9, with or without situs inversus10.4
48mesocardia10.4
49vaccinia10.3
50acute myocardial infarction10.3

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



Diseases related to situs inversus

Symptoms for Situs Inversus

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Clinical features from OMIM:

270100

Drugs & Therapeutics for Situs Inversus

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Drug clinical trials:

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Search NIH Clinical Center for Situs Inversus

Genetic Tests for Situs Inversus

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Genetic tests related to Situs Inversus:

id Genetic test Affiliating Genes
1 Situs Inversus22

Anatomical Context for Situs Inversus

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MalaCards organs/tissues related to Situs Inversus:

32
Liver, Heart, Kidney, Lung, Colon, Pancreas, Spleen, Eye, Thyroid, Lymph node, Brain, Salivary gland, Atrioventricular node, Tongue, Pituitary

Animal Models for Situs Inversus or affiliated genes

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MGI Mouse Phenotypes related to Situs Inversus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1NODAL, DNAH11, DNAH5
2MP:00053709.0DNAH11, DNAH5, NODAL
3MP:00053888.7DNAH5, DNAH11, DNAI1, NODAL
4MP:00053858.6NODAL, DNAH11, DNAH5, DNAI1
5MP:00053878.3DNAH11, DNAH5, DNAI1, NODAL

Publications for Situs Inversus

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Articles related to Situs Inversus:

(show top 50)    (show all 632)
idTitleAuthorsYear
1
Aortic arch rerouting and OPCAB in a patient with situs inversus totalis. (24814324)
2014
2
What is normal in an abnormality? Central venous cannulation in a patient with Situs inversus totalis with dextrocardia and polyCystic kidney disease. (24133338)
2013
3
A rare adult case of corrected transposition of the great vessels with situs inversus with a single coronary artery and an atrial septal defect. (23916778)
2013
4
Glaucoma in an Eye with Situs Inversus of the Optic Disc. (24168157)
2013
5
Laparoscopic cholecystectomy in situs inversus totalis: Feasibility and review of literature. (23810920)
2013
6
Hyperacute anterior myocardial infarction in a patient with dextrocardia and situs inversus. (22710589)
2012
7
Cor triatriatum sinister with situs inversus totalis in an infant. (23720687)
2012
8
Comparison of outcomes in adults with congenitally corrected transposition with situs inversus versus situs solitus. (22935525)
2012
9
Laparoscopic cholecystectomy in patients with situs inversus totalis: literature review of two patients. (23482252)
2012
10
Left-sided appendicitis in a patient with situs inversus totalis. (22977765)
2012
11
A rare case of situs inversus with dextrocardia, lutembacher syndrome, and pericardial effusion. (22567197)
2011
12
Repair of postinfarct ventricular septal defect and total myocardial revascularization in a case of dextrocardia with situs inversus. (21225400)
2011
13
Percutaneous transvenous mitral commissurotomy in a patient with situs inversus and dextrocardia: a case report. (22577444)
2011
14
Advanced esophageal cancer with situs inversus totalis successfully treated with chemoradiotherapy followed by esophagectomy: case report. (21675044)
2011
15
Minimally-invasive coronary surgery in dextrocardia and situs inversus totalis. (20847064)
2010
16
Vaginal clear cell adenocarcinoma with associated MA1llerian duct anomalies, renal agenesis and situs inversus: report of a case with no known in-utero exposure with diethyl stilboestrol. (19757709)
2009
17
Living donor liver transplantation using a graft from a donor with situs inversus totalis. (19479813)
2009
18
Laparoscopic cholecystectomy for severe acute cholecystitis in a patient with situs inversus totalis and posterior cystic artery. (18493329)
2008
19
Evaluation of the portal vein after duodenoduodenostomy for congenital duodenal stenosis associated with the preduodenal superior mesenteric vein, situs inversus, polysplenia, and malrotation. (17270565)
2007
20
Visceral situs inversus in three patients. (17338134)
2006
21
Lung resection for primary bronchial carcinoma in a patient with complete situs inversus. (16015631)
2006
22
Drospirenone in the treatment of severe premenstrual cerebral edema in a woman with antiphospholipid syndrome, lateral sinus thrombosis, situs inversus and epileptic seizures. (16373242)
2005
23
Pectus excavatum and situs inversus totalis: a new combination or a coincidence? (15287424)
2004
24
Situs inversus totalis: giant hiatal hernia repair by laparoscopic Collis gastroplasty and Nissen fundoplication. (15106618)
2004
25
Situs inversus and severe pulmonaryhypertension. (12642048)
2003
26
Accessory mitral valve tissue associated with situs inversus in an elderly patient. (12829096)
2003
27
Implication of a reflected image illustration for pelvic lymphadenectomy on uterine cervical cancer with situs inversus totalis. (11855896)
2002
28
Mustard procedure in atrial situs inversus: three-dimensional ablation of intra-atrial reentry tachycardia on a surgically created inversus cavo-tricuspid isthmus. (12116804)
2002
29
TIPS creation in a patient with situs inversus totalis. (12132029)
2002
30
Hepatic dislocation associated with left-sided congenital diaphragmatic eventration without situs inversus. (12072804)
2002
31
Transjugular intrahepatic portosystemic shunt creation in a patient with situs inversus. (12119339)
2002
32
Heart block in dextrocardia and situs inversus: a case report. (11686917)
2001
33
Right varicocele associated with inferior vena cava malformation in situs inversus: percutaneous treatment with retrograde sclerotherapy. (11789975)
2001
34
Anomalies of lateralization in man: a case of total situs inversus. (11236325)
2000
35
Abnormal nodal flow precedes situs inversus in iv and inv mice. (10549278)
1999
36
Slow pathway ablation in a patient with common AV nodal reentrant tachycardia and complete situs inversus. (11220568)
1999
37
Coronary arteriography in the presence of dextrocardia and situs inversus. (8924024)
1996
38
Receptor subtype and intracellular signal transduction pathway associated with situs inversus induced by alpha 1 adrenergic stimulation in rat embryos. (8150214)
1994
39
Successful directional coronary atherectomy in a patient with dextrocardia and situs inversus. (8495472)
1993
40
Prolonged survival with isolated levocardia and situs inversus. (1893555)
1991
41
Interrupted aortic arch, mirror-image dextrocardia with situs inversus and Sprengel's anomaly. (3727028)
1986
42
EKG of the month. Situs inversus totalis (dextrocardia). (6887849)
1983
43
Diffuse idiopathic skeletal hyperostosis in a patient with situs inversus. (6860386)
1983
44
An elderly case of mixed levocardia with situs inversus including inverted atria and complete transposition of the great vessels--an autopsied case. (916151)
1977
45
Isolated ventricular discordance and complete atrioventricular canal in situs inversus. Report of successful surgical repair. (900045)
1977
46
Inferior myocardial infarction in a patient with mirror-image dextrocardia and situs inversus totalis. (1248285)
1976
47
Primary dextrocardia with situs inversus, associated with sinusitis and bronchitis in a dog. (4857725)
1974
48
THE MODE OF INHERITANCE IN ISOLATED LAEVOCARDIA AND DEXTROCARDIA AND SITUS INVERSUS. (14072604)
1963
49
Posterior ventricular aneurysm in patient with dextrocardia and situs inversus. (13180480)
1954
50
Congenital dextrocardia with situs inversus complicated by hypertension and angina pectoris. (15434816)
1950

Variations for Situs Inversus

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Clinvar genetic disease variations for Situs Inversus:

6
id Gene Name Type Significance SNP ID Assembly Location
1NODALNM_018055.4(NODAL): c.548G> A (p.Arg183Gln)single nucleotide variantPathogenicrs104894169GRCh37Chr 10, 72195385: 72195385
2NODALNM_018055.4(NODAL): c.778G> A (p.Gly260Arg)single nucleotide variantPathogenicrs121909283GRCh37Chr 10, 72195155: 72195155

Expression for genes affiliated with Situs Inversus

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Expression patterns in normal tissues for genes affiliated with Situs Inversus

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Pathways for genes affiliated with Situs Inversus

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Pathways related to Situs Inversus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Neurofilaments60
8.5DNAI1, DNAH5, DNAI2, DNAH11

Compounds for genes affiliated with Situs Inversus

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GO Terms for genes affiliated with Situs Inversus

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Cellular components related to Situs Inversus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.2ARL2BP, DNAI1
2axonemal dynein complexGO:0058588.8DNAH5, DNAI2, DNAH11
3microtubuleGO:0058748.2DNAI1, DNAH5, DNAI2, DNAH11

Biological processes related to Situs Inversus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule-based movementGO:0070189.4DNAH5, DNAH11
2cilium or flagellum-dependent cell motilityGO:0015399.1DNAH5, DNAH11
3metabolic processGO:0081528.8DNAI1, DNAH5, DNAI2

Molecular functions related to Situs Inversus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.4DNAH5, DNAH11
2microtubule motor activityGO:0037778.6DNAH5, DNAI2, DNAH11

Products for genes affiliated with Situs Inversus

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Sources for Situs Inversus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet