SIV
MCID: STS002
MIFTS: 56

Situs Inversus (SIV) malady

Summaries for Situs Inversus

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: 7/19/2010

MalaCards: Situs Inversus, also known as situs inversus viscerum, is related to primary ciliary dyskinesia and double outlet right ventricle. An important gene associated with Situs Inversus is DNAH11 (dynein, axonemal, heavy chain 11), and among its related pathways are Signaling by NODAL and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include liver, heart and lung, and related mouse phenotypes are digestive/alimentary and respiratory system.

Wikipedia:63 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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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 10DISEASES, 44Novoseek, 39NCIt, 56SNOMED-CT, 46OMIM, 27ICD9CM, 34MeSH, 60UMLS
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Aliases & Descriptions:

situs inversus 8 42 22 10 44
situs inversus viscerum 8 42
complete transposition 8
laterality sequence 8
siv 42


External Ids:

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

Related Diseases for Situs Inversus

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17GeneCards, 18GeneDecks
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Diseases related to Situs Inversus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 242)
idRelated DiseaseScoreTop Affiliating Genes
1primary ciliary dyskinesia30.7TCTE3, DNAH5, DNAH11, DNAI2, DNAI1, FOXJ1
2double outlet right ventricle30.4GDF1, CFC1
3ventricular septal defect30.4CFC1, GDF1
4bronchiectasis30.3DNAI1
5tetralogy of fallot30.3GDF1
6hydrocephalus30.3RFX4
7polycystic kidney disease30.3INVS, NPHP3
8kartagener syndrome30.2DNAI1, DNAH5
9cystic kidney30.2NPHP3, INVS
10congenital heart defect30.0ZIC3
11male infertility30.0DNAH5
12dextrocardia11.1
13duodenitis10.6
14dextrocardia with situs inversus10.6
15pancreatitis10.6
16myocardial infarction10.5
17duodenal obstruction10.5
18in situ carcinoma10.5
19biliary atresia10.4
20polydactyly10.4
21appendicitis10.4
22klippel-feil syndrome10.4
23esophagitis10.4
24hepatitis10.4
25obesity10.4
26swine influenza10.4
27hepatocellular carcinoma10.4
28chondrodysplasia situs inversus imperforate anus polydactyly10.4
29bardet-biedl syndrome10.3
30adenocarcinoma10.3
31colon cancer10.3
32kidney disease10.3
33isolated levocardia10.3
34jeune syndrome situs inversus10.3
35ciliary dyskinesia, primary, 3, with or without situs inversus10.3
36ciliary dyskinesia, primary, 7, with or without situs inversus10.3
37ciliary dyskinesia, primary, 1, with or without situs inversus10.3
38ciliary dyskinesia, primary, 9, with or without situs inversus10.3
39influenza10.3
40vaccinia10.3
41coronary artery disease10.3
42cerebritis10.3
43esophageal atresia10.3
44infertility10.3
45adult syndrome10.3
46adenocarcinoma in situ10.3
47cholelithiasis10.3
48hepatitis a10.3
49acute myocardial infarction10.3
50esophageal cancer10.3

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



Diseases related to situs inversus

Clinical Features for Situs Inversus

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46OMIM
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Clinical features from OMIM:

270100

Drugs & Therapeutics for Situs Inversus

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Situs Inversus

Genetic Tests for Situs Inversus

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Situs Inversus:

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

Animal Models for Situs Inversus or affiliated genes

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36MGI
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Publications for Situs Inversus

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50PubMed
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Articles related to Situs Inversus:

(show top 50)    (show all 619)
idTitleAuthorsYear
1
Glaucoma in an Eye with Situs Inversus of the Optic Disc. (24168157)
2013
2
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. (21845392)
2013
3
Aortic arch replacement in an elderly patient with dextrocardia and situs inversus. (23103732)
2013
4
Angiographic embolization of a postpartum vulvovaginal hematoma in a patient with situs inversus totalis: an effective second-line treatment. (23864973)
2013
5
Technical difficulties and its remedies in laparoscopic cholecystectomy in situs inversus totalis: A rare case report. (23816750)
2013
6
Laparoscopic adrenalectomy in a patient with situs inversus. (24018094)
2013
7
Symptomatic sick sinus syndrome requiring permanent pacemaker implantation in a patient uwith mirror image dextrocardia with situs inversus and infertility. (24000510)
2013
8
Unique case of giant Kommerell diverticulum with aberrant left subclavian artery arising from the left aortic arch associated with situs inversus. (23021762)
2013
9
Percutaneous closure of patent foramen ovale in a patient with situs viscerum inversus. (22609870)
2013
10
Total situs inversus found coincidentally following a firearm injury. (22925109)
2013
11
Left-sided appendicitis in a patient with situs inversus totalis. (22977765)
2012
12
Peritoneal encapsulation in a patient with incomplete situs inversus. (23058152)
2012
13
Three- and four-dimensional volume-rendered imaging of situs inversus totalis with inversion mode. (22366806)
2012
14
Repair of postinfarct ventricular septal defect and total myocardial revascularization in a case of dextrocardia with situs inversus. (21225400)
2011
15
Mitral valve replacement in a patient with situs inversus and dextrocardia. (21394711)
2011
16
Single-incision laparoscopic cholecystectomy in situs inversus totalis. (21902984)
2011
17
Real-time integration of intracardiac echocardiography and 3D electroanatomical mapping to guide catheter ablation of isthmus-dependent atrial flutter in a patient with complete situs inversus and interruption of the inferior vena cava with azygos continuation. (19669397)
2011
18
Salivary gland choristoma of the middle ear in a child with situs inversus totalis. (19864090)
2010
19
Bochdalek hernia with concomitant partial situs inversus in an adult. (20512763)
2010
20
Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice. (20080492)
2010
21
Laparoscopic splenectomy for idiopathic thrombocytopenic purpura in a woman with situs inversus: Report of a Case. (21110165)
2010
22
Situs inversus totalis in a dog with a chronic diaphragmatic hernia. (19723848)
2009
23
Rupture of an abdominal aortic aneurysm in a patient with a situs inversus totalis: report of a case. (18307000)
2008
24
Situs inversus with autosomal recessive polycystic kidney disease. (18723918)
2008
25
Laparoscopic duodenoduodenostomy in a newborn with situs inversus totalis. (18721026)
2008
26
Liver transplantation in a patient with situs inversus: a case report. (17711748)
2007
27
Retroversus implantation of a liver graft: a novel approach to the deceased donor with situs inversus totalis. (17511760)
2007
28
Myocardial revascularization in a patient with situs inversus totalis. (17589612)
2007
29
Laparoscopic hemicolectomy in a patient with situs inversus totalis. (17854150)
2007
30
Echocardiographic and radiographic diagnosis: complete situs inversus in a cat. (16700185)
2006
31
Pancreaticoduodenectomy for common bile duct cancer in a patient with situs inversus totalis: a case report. (16706098)
2006
32
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
33
Acute myocardial infarction in a patient with dextrocardia and situs inversus. (16216620)
2005
34
Complete situs inversus in a two-year-old standardbred horse. (15160847)
2004
35
Cricopharyngeal myotomy in a patient with situs inversus totalis. (14763572)
2004
36
Laparoscopic cholecystectomy in a patient with situs inversus. (15176549)
2004
37
Successful rotational atherectomy and stenting in a situs inversus patient. (12403898)
2002
38
Prescreen evaluation of situs inversus patients. (12056472)
2001
39
Prenatal echocardiographic diagnosis of situs inversus totalis and transposition of the great arteries: a case report. (11765168)
2001
40
Neonatal arterial switch operation for transposition of the great arteries in a patient with mirror image dextrocardia and situs inversus totalis. (10928507)
2000
41
Slow pathway ablation in a patient with common AV nodal reentrant tachycardia and complete situs inversus. (11220568)
1999
42
Aplasia cutis congenita of the scalp associated with meningoencephalocele and situs inversus. (10671101)
1999
43
A diagnosis obscured: pyloric stenosis with situs inversus. (9166040)
1997
44
Duodenal atresia and situs inversus: case report. (8997872)
1996
45
Aortic atresia with visceral situs inversus with mirror-image dextrocardia. (2594576)
1989
46
Interrupted aortic arch, mirror-image dextrocardia with situs inversus and Sprengel's anomaly. (3727028)
1986
47
Surgical treatment of double-outlet left ventricle in situs inversus [I,D,D]. (6712335)
1984
48
EKG of the month. Situs inversus totalis (dextrocardia). (6887849)
1983
49
Mirror-image dextrocardia with situs inversus and coarctation of the aorta. (4423031)
1974
50
Dextrocardia with situs inversus and isolated levocardia in two male siblings. (4658677)
1972

Genetic Variations for Situs Inversus

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Expression for genes affiliated with Situs Inversus

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 51QIAGEN, 12EMD Millipore
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Pathways related to Situs Inversus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4CFC1, GDF1
210.3ZIC3, HAND1, RFX4
3
Hide members
10.3TCTE3, DNAH5, DNAH11, DNAI2, DNAI1

Compounds for genes affiliated with Situs Inversus

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GO Terms for genes affiliated with Situs Inversus

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16Gene Ontology
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Cellular components related to Situs Inversus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dynein complexGO:03028610.4TCTE3, DNAI1
2cilium axonemeGO:03508510.3DNAH5, DNAH11, DNAI2, DNAI1, CCDC103
3axonemal dynein complexGO:00585810.3DNAI2, DNAH11, DNAH5
4microtubuleGO:00587410.2DNAI1, DNAI2, DNAH11, DNAH5, INVS, TCTE3
5ciliumGO:00592910.0INVS, DNAI1, NPHP3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1determination of pancreatic left/right asymmetryGO:03546910.5ZIC3, NPHP3
2determination of digestive tract left/right asymmetryGO:07190710.4CCDC103, ZIC3
3determination of left/right symmetryGO:00736810.4ZIC3, NPHP3, DNAH11, CFC1
4cell projection organizationGO:03003010.4DNAI1, CCDC103
5determination of liver left/right asymmetryGO:07191010.4NPHP3, ZIC3
6heart loopingGO:00194710.4HAND1, FOXJ1, NPHP3, CCDC103, ZIC3
7epithelial cilium movement involved in determination of left/right asymmetryGO:06028710.3CCDC103, NPHP3
8ciliary or bacterial-type flagellar motilityGO:00153910.1DNAH5, DNAH11

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00377710.4DNAH5, DNAH11, DNAI2

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet