MCID: RTR013
MIFTS: 30

Rotor Syndrome malady

Summaries for Rotor Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom.

MalaCards: Rotor Syndrome, also known as hyperbilirubinemia, rotor type, is related to gilbert syndrome and dubin-johnson syndrome. An important gene associated with Rotor Syndrome is SLCO1B3 (solute carrier organic anion transporter family, member 1B3), and among its related pathways are Synthesis of bile acids and bile salts and Transport of organic anions. The compounds [3h]estradiol-17β-glucuronide and rifamycin sv have been mentioned in the context of this disorder. Affiliated tissues include liver and skin.

NIH Rare Diseases:43 Rotor syndrome is a hereditary disorder of bilirubin metabolism. in rotor syndrome there is an increase in the amount of bilirubin in the blood (hyperbilirubinemia). rotor syndrome is characterized by jaundice, which is a yellowing of the skin and whites of the eyes. rotor syndrome is caused by mutations in the slco1b1 and slco1b3 genes. mutations in both genes are required for the condition to occur. this condition is inherited in an autosomal recessive fashion. last updated: 12/12/2013

Wikipedia:64 Rotor syndrome, also called Rotor type hyperbilirubinemia, is a rare, relatively benign autosomal... more...

GeneReviews summary for rotor

Aliases & Classifications for Rotor Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 45Novoseek, 61UMLS
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Aliases & Descriptions:

rotor syndrome 19 43 20 21 45 61
hyperbilirubinemia, rotor type 43 21
rotor-type hyperbilirubinemia 19


Related Diseases for Rotor Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Rotor Syndrome:



Diseases related to rotor syndrome

Clinical Features for Rotor Syndrome

Drugs & Therapeutics for Rotor Syndrome

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

Search CenterWatch for Rotor Syndrome

Drug clinical trials:

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Search CenterWatch for Rotor Syndrome

Genetic Tests for Rotor Syndrome

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20GeneTests
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Genetic tests related to Rotor Syndrome:

id Genetic test Affiliating Genes
1 Rotor Syndrome20 SLCO1B3

Anatomical Context for Rotor Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Rotor Syndrome:

33
Liver, Skin

Animal Models for Rotor Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Rotor Syndrome

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51PubMed
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Articles related to Rotor Syndrome:

(show all 14)
idTitleAuthorsYear
1
Loss of OATP1B3 function causes Rotor syndrome: implications for potential use of inhibitors in cancer. (22954695)
2012
2
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. (22232210)
2012
3
A child with rotor syndrome and Capillaria philippinensis: case report and review of literature. (21980780)
2011
4
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). (20955959)
2010
5
Anesthetic management of a patient with rotor syndrome for cerebral aneurysm clipping. (19098629)
2009
6
Coinheritance of Rotor syndrome, G-6-PD deficiency, and heterozygous beta thalassemia: a possible genetic interaction. (11568527)
2001
7
Clinical quiz. Dubin-Johnson syndrome or Rotor syndrome. (10507830)
1999
8
Diagnostic approach of Rotor syndrome with cholescintigraphy. (9298301)
1997
9
Cholescintigraphy in the diagnosis of Rotor syndrome. (9152529)
1997
10
Cholescintigraphy in the diagnosis of Rotor syndrome. (8195868)
1994
11
Rotor Syndrome (23236639)
1993
12
Impaired clearance of cholephilic anions in Rotor syndrome. (6880319)
1983
13
Rotor syndrome, a family study. (4456510)
1974
14
On the relation between Dubin-Johnson syndrome and Rotor type. A case of Dubin-Johnson syndrome complicated with serum hepatitis. (5860916)
1965

Genetic Variations for Rotor Syndrome

Expression for genes affiliated with Rotor Syndrome

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

Search GEO for disease gene expression data for Rotor Syndrome.

Pathways for genes affiliated with Rotor Syndrome

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 50PharmGKB, 30KEGG
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Compounds for genes affiliated with Rotor Syndrome

Sources:
29IUPHAR, 11DrugBank, 24HMDB, 45Novoseek, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Rotor Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1[3h]estradiol-17β-glucuronide299.7SLCO1B1, SLCO1B3
2rifamycin sv299.7SLCO1B1, SLCO1B3
3N-Cholylglycine119.7SLCO1B1, SLCO1B3
4Caspofungin119.7SLCO1B1, SLCO1B3
51,3,7,12-Tetrahydroxycholan-24-oic acid249.7SLCO1B3, SLCO1B1
61,3,12-Trihydroxycholan-24-oic acid249.7SLCO1B3, SLCO1B1
7(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid249.7SLCO1B3, SLCO1B1
8Cabazitaxel119.7SLCO1B3, SLCO1B1
9Rilpivirine119.7SLCO1B1, SLCO1B3
10Dabrafenib119.7SLCO1B3, SLCO1B1
11Dehydroepiandrosterone11 2410.7SLCO1B1, SLCO1B3
12fexofenadine45 50 11 2412.6SLCO1B1, SLCO1B3
13Levothyroxine119.6SLCO1B1, SLCO1B3
14Liotrix119.6SLCO1B1, SLCO1B3
15Liothyronine11 2410.6SLCO1B3, SLCO1B1
16glycyrrhizin45 2910.6SLCO1B3, SLCO1B1
17valsartan45 60 29 1112.6SLCO1B1, SLCO1B3
18lithocholic acid45 29 2411.5SLCO1B3, SLCO1B1
19estradiol-17beta-glucuronide459.5SLCO1B1, ABCC2
20hyperforin45 29 1111.5SLCO1B1, ABCC2
21Aminohippurate119.4ABCC2, SLCO1B1
22pantoprazole45 50 11 2412.4ABCC2, SLCO1B1
23cyclosporine50 1110.3SLCO1B1, ABCC2
24deoxycholic acid45 29 11 2412.3SLCO1B3, SLCO1B1
25ezetimibe45 1110.2ABCC2, SLCO1B1
26saquinavir45 1110.2SLCO1B1, ABCC2
27indinavir45 50 1111.1SLCO1B1, ABCC2
28gemfibrozil45 29 1111.0SLCO1B1, SLCO1B3
29uridine diphosphate459.0ABCC2, SLCO1B1
30Gadoxetate 119.0SLCO1B1, SLCO1B3, ABCC2
31bromosulfophthalein459.0SLCO1B1, SLCO1B3, ABCC2
32olmesartan45 29 1111.0ABCC2, SLCO1B3, SLCO1B1
33Pitavastatin119.0SLCO1B1, SLCO1B3, ABCC2
34oatp459.0SLCO1B1, SLCO1B3, ABCC2
35conjugated estrogens50 119.9ABCC2, SLCO1B3, SLCO1B1
36rifampin50 119.9SLCO1B1, SLCO1B3, ABCC2
37Taurocholic Acid11 249.9SLCO1B1, SLCO1B3, ABCC2
38estrone sulfate45 249.9ABCC2, SLCO1B3, SLCO1B1
39rosuvastatin45 50 29 1111.9SLCO1B1, SLCO1B3, ABCC2
40taurocholate458.9ABCC2, SLCO1B3, SLCO1B1
41digoxin45 50 60 11 2412.9SLCO1B1, SLCO1B3, ABCC2
42ursodeoxycholic acid45 11 2410.9SLCO1B1, SLCO1B3, ABCC2
43mycophenolate mofetil45 50 1110.9ABCC2, SLCO1B3, SLCO1B1
44cholic acid45 29 11 2411.9SLCO1B1, SLCO1B3, ABCC2
45chenodeoxycholic acid45 29 11 2411.9ABCC2, SLCO1B3, SLCO1B1
46rifampicin45 29 6010.9SLCO1B1, SLCO1B3, ABCC2
47pravastatin45 50 29 11 2412.9ABCC2, SLCO1B3, SLCO1B1
48atorvastatin45 50 29 11 2412.9ABCC2, SLCO1B3, SLCO1B1
49methotrexate45 50 1110.9SLCO1B1, SLCO1B3, ABCC2
50cyclosporin a45 29 6010.7SLCO1B1, SLCO1B3, ABCC2

GO Terms for genes affiliated with Rotor Syndrome

Sources:
16Gene Ontology
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Cellular components related to Rotor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.3SLCO1B1, SLCO1B3
2integral to plasma membraneGO:0058878.2SLCO1B1, SLCO1B3, ABCC2

Biological processes related to Rotor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1organic anion transportGO:0157119.4SLCO1B1, SLCO1B3
2sodium-independent organic anion transportGO:0432529.3SLCO1B1, SLCO1B3
3bile acid and bile salt transportGO:0157219.2SLCO1B3, SLCO1B1
4bile acid metabolic processGO:0082069.0SLCO1B1, SLCO1B3
5transmembrane transportGO:0550858.5SLCO1B1, SLCO1B3, ABCC2

Molecular functions related to Rotor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1organic anion transmembrane transporter activityGO:0085149.0SLCO1B3, ABCC2

Products for genes affiliated with Rotor Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Rotor Syndrome

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