SIV
MCID: STS002
MIFTS: 56

Situs Inversus (SIV) malady

Summaries for Situs Inversus

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 kartagener syndrome and primary ciliary dyskinesia. 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 lymph node, spleen and brain, and related mouse phenotypes are digestive/alimentary and respiratory system.

Wikipedia:64 Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major... more...

Description from OMIM:47 270100

Aliases & Classifications for Situs Inversus

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 40NCIt, 57SNOMED-CT, 47OMIM, 27ICD9CM, 35MeSH, 61UMLS, 25ICD10
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Classifications:



Aliases & Descriptions:

situs inversus 8 43 22 10 45
situs inversus viscerum 8 43
complete transposition 8
laterality sequence 8
siv 43


External Ids:

Disease Ontology8 DOID:758
NCIt40 C87121
OMIM47 270100
ICD9CM27 759.3
MeSH35 D012857
ICD1025 Q89.3

Related Diseases for Situs Inversus

Sources:
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 241)
idRelated DiseaseScoreTop Affiliating Genes
1kartagener syndrome30.7DNAI1, DNAH5
2primary ciliary dyskinesia30.7TCTE3, CCDC103, FOXJ1, DNAH11, DNAI1, DNAI2
3ventricular septal defect30.5CFC1, GDF1
4bronchiectasis30.4DNAI1
5polycystic kidney disease30.4NPHP3, INVS
6renal-hepatic-pancreatic dysplasia30.0NPHP3
7dextrocardia11.1
8levocardia10.7
9dextrocardia with situs inversus10.6
10renal dysplasia10.6
11left ventricular outflow tract obstruction10.5
12biliary atresia10.4
13polydactyly10.4
14appendicitis10.4
15klippel-feil syndrome10.4
16n syndrome10.4
17duodenal atresia10.4
18swine influenza10.4
19heterotaxy10.4
20jeune syndrome situs inversus10.4
21sinusitis10.4
22subpulmonary stenosis10.4
23bardet-biedl syndrome10.3
24adenocarcinoma in situ10.3
25adenocarcinoma10.3
26chondrodysplasia situs inversus imperforate anus polydactyly10.3
27ciliary dyskinesia, primary, 3, with or without situs inversus10.3
28ciliary dyskinesia, primary, 7, with or without situs inversus10.3
29ciliary dyskinesia, primary, 1, with or without situs inversus10.3
30ciliary dyskinesia, primary, 9, with or without situs inversus10.3
31bilateral renal dysplasia10.3
32mesocardia10.3
33vaccinia10.3
34coronary artery disease,10.3
35esophageal atresia10.3
36infertility10.3
37adult syndrome10.3
38cholelithiasis10.3
39acute myocardial infarction10.3
40aglossia and situs inversus10.3
41annular pancreas10.3
42ivemark syndrome10.3
43double outlet left ventricle10.3
44left-sided gallbladder10.3
45situs inversus totalis with cystic dysplasia of kidneys and pancreas10.3
46agnathia-otocephaly complex10.3
47renal dysplasia, cystic10.3
48stomatitis10.2
49duodenal ulcer10.2
50lung carcinoma in situ10.2

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



Diseases related to situs inversus

Clinical Features for Situs Inversus

Sources:
47OMIM
See all sources

Clinical features from OMIM:

270100

Drugs & Therapeutics for Situs Inversus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Situs Inversus

Search CenterWatch for Situs Inversus

Genetic Tests for Situs Inversus

Sources:
22GTR
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Genetic tests related to Situs Inversus:

id Genetic test Affiliating Genes
1 Situs Inversus22

Anatomical Context for Situs Inversus

Sources:
33MalaCards
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MalaCards organs/tissues related to Situs Inversus:

33
Lymph node, Spleen, Brain, Spinal cord, Heart, Small intestine, Colon, Kidney, Liver, Lung, Pancreas, Thyroid, Salivary gland, T cells, Occipital lobe, Atrioventricular node, Tongue, Pituitary

Animal Models for Situs Inversus or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Situs Inversus

Sources:
51PubMed
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Articles related to Situs Inversus:

(show top 50)    (show all 619)
idTitleAuthorsYear
1
Laparoscopic cholecystectomy in situs inversus totalis: Feasibility and review of literature. (23810920)
2013
2
Novel technique of implantation for reversed modified right lobe graft from a donor with situs inversus totalis: new challenge in adult living donor liver transplantation. (23879322)
2013
3
Tetralogy of fallot with dextrocardia and situs inversus in a 7-year-old boy. (24082385)
2013
4
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (23897666)
2013
5
Laparoscopic cholecystectomy in a patient with situs inversus totalis: case report with review of literature. (24105014)
2013
6
Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. (23794154)
2013
7
Computed tomography angiography of situs inversus, portosystemic shunt and multiple vena cava anomalies in a dog. (23842117)
2013
8
Torsion of an accessory spleen with situs inversus in a child. (22450011)
2012
9
Transaortic Fallot repair in a grown-up patient: advantages in a situs inversus setting. (22391340)
2012
10
Laparoscopic adrenalectomy in a patient with situs inversus levocardia. (23256030)
2012
11
Combination of partial situs inversus, polysplenia and annular pancreas with duodenal obstruction and intestinal malrotation. (23019995)
2012
12
A completely subcutaneous implantable cardioverter defibrillator in a patient with situs inversus totalis. (21539637)
2012
13
Situs inversus totalis with carcinoma of gastric cardia: a case report. (23227934)
2012
14
Roof-dependent atrial flutter after catheter ablation for persistent atrial fibrillation in dextrocardia with situs inversus. (20226271)
2011
15
Intraductal Papillary Mucinous Neoplasm (IPMN) of the Pancreas with Situs Inversus Totalis-Case Report with Review of Literature. (22173849)
2011
16
Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy? (19550299)
2009
17
Successful pacemaker implantation in a patient with dextrocardia situs inversus totalis. (19734550)
2009
18
Isolated pancreatic tuberculosis in a patient with total situs inversus. (19806112)
2009
19
Acute cholangiopancreatic diseases with situs inversus totalis treated with endoscopic sphincterotomy: report of two cases. (19236550)
2009
20
Hepatic resection for metastatic colon cancer in patients with situs inversus totalis complicated by multiple anomalies of the hepatobiliary system: the first case report. (19415395)
2009
21
Congenital duodenal obstruction with situs inversus totalis: Report of a rare association and discussion. (20011474)
2008
22
A case of gastric cancer associated to situs inversus totalis. (19077286)
2008
23
Three-port laparoscopic cholecystectomy in a brazilian Amazon woman with situs inversus totalis: surgical approach. (21490884)
2008
24
Endoscopic redo tricuspid valve replacement in complete situs inversus. (16798315)
2006
25
Abdominal aortic aneurysm in situs inversus totalis. (16550477)
2006
26
Living donor liver transplantation for biliary atresia complicated by situs inversus: technical highlights. (16237718)
2005
27
Pectus excavatum and situs inversus totalis: a new combination or a coincidence? (15287424)
2004
28
A simple technique to properly position a Swan Ganz catheter in cardiac surgical patients with situs inversus. (15333440)
2004
29
Split cord malformation and situs inversus totalis: case report and review of the literature. (14648098)
2004
30
Laparoscopic cholecystectomy in situs inversus totalis: The importance of being left-handed. (14959744)
2003
31
Implication of a reflected image illustration for pelvic lymphadenectomy on uterine cervical cancer with situs inversus totalis. (11855896)
2002
32
Coronary artery anatomy in complete transposition of the great arteries with situs inversus. (11779536)
2002
33
Right varicocele associated with inferior vena cava malformation in situs inversus: percutaneous treatment with retrograde sclerotherapy. (11789975)
2001
34
Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. (15887731)
2001
35
Situs inversus totalis and congenital hypoglossia. (11152148)
2001
36
Situs inversus and bowel malrotation: contribution of prenatal diagnosis and laparoscopy. (10945697)
2000
37
Renal dysplasia and situs inversus totalis: an autopsy case report and literature review. (10746410)
2000
38
Congenitally corrected transposition of the great arteries (L-TGA) with situs inversus totalis in adulthood: findings with magnetic resonance imaging. (10788719)
2000
39
Situs inversus with cholelithiasis. (10707709)
1995
40
Receptor subtype and intracellular signal transduction pathway associated with situs inversus induced by alpha 1 adrenergic stimulation in rat embryos. (8150214)
1994
41
Orthotopic liver transplantation with abdominal situs inversus and dextrocardia. (1416442)
1992
42
Prolonged survival with isolated levocardia and situs inversus. (1893555)
1991
43
A scintigraphic demonstration of dextrocardia and complete abdominal situs inversus. (2383941)
1990
44
Superoinferior ventricular heart with situs inversus, levo-loop and dextro-malposition (I,L,D), and double-outlet right ventricle: a case report. (3959585)
1986
45
Situs inversus totalis with calculi in a left-sided gallbladder: report of a case. (6746339)
1984
46
Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis. (7304173)
1981
47
Left-sided gallbladder:: calculous cholecystitis with situs inversus. (1211989)
1975
48
Rheumatic mitral stenosis and aortic incompetence in a case of dextrocardia with situs inversus. (13315858)
1956
49
Congenital dextrocardia with situs inversus complicated by acute myocardial infarction; report of a case. (14863837)
1951
50
Situs inversus with levocardia. (14867799)
1951

Genetic Variations for Situs Inversus

Expression for genes affiliated with Situs Inversus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Situs Inversus

Search GEO for disease gene expression data for Situs Inversus.

Pathways for genes affiliated with Situs Inversus

Sources:
54Reactome, 52QIAGEN, 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

GO Terms for genes affiliated with Situs Inversus

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet