MCID: RTR013
MIFTS: 36

Rotor Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Rotor Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 hyperbilirubinemia, rotor type, digenic. 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 vitamins, nucleosides, and related molecules. The compounds [3h]estradiol-17beta-glucuronide and rifamycin sv have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver.

NIH Rare Diseases:44 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:66 Rotor syndrome, also called Rotor type hyperbilirubinemia, is a rare, relatively benign autosomal... more...

GeneReviews summary for rotor

Aliases & Classifications for Rotor Syndrome

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

rotor syndrome 20 44 21 22 46 63
hyperbilirubinemia, rotor type 44 22
rotor-type hyperbilirubinemia 20


Related Diseases for Rotor Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Rotor Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome10.2
2hyperbilirubinemia, rotor type, digenic10.2
3cerebritis10.1
4beta thalassemia10.1
5dubin-johnson syndrome10.1
6thalassemia10.1
7crigler najjar syndrome, type 210.1
8aneurysm10.1
9cerebral aneurysms10.1
10hypotrichosis 1210.1
11bilirubin metabolic disorder10.0SLCO1B1, ABCC2
12galactosemia10.0SLCO1B1, ABCC2
13cholestasis10.0ABCC2, SLCO1B1
14primary biliary cirrhosis10.0SLCO1B1, ABCC2
15hepatocellular carcinoma9.9SLCO1B3, SLCO1B1, ABCC2

Graphical network of diseases related to Rotor Syndrome:



Diseases related to rotor syndrome

Symptoms for Rotor Syndrome

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Drugs & Therapeutics for Rotor Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Rotor Syndrome

Drug clinical trials:

Search ClinicalTrials for Rotor Syndrome

Search NIH Clinical Center for Rotor Syndrome

Search CenterWatch for Rotor Syndrome

Genetic Tests for Rotor Syndrome

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21GeneTests
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Genetic tests related to Rotor Syndrome:

id Genetic test Affiliating Genes
1 Rotor Syndrome21 SLCO1B3

Anatomical Context for Rotor Syndrome

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34MalaCards
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MalaCards organs/tissues related to Rotor Syndrome:

34
Skin, Eye, Liver

Animal Models for Rotor Syndrome or affiliated genes

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Publications for Rotor Syndrome

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53PubMed
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Articles related to Rotor Syndrome:

(show all 13)
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

Variations for Rotor Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Rotor Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLCO1B1NM_006446.4(SLCO1B1): c.1738C> T (p.Arg580Ter)single nucleotide variantPathogenicrs71581941GRCh37Chr 12, 21375289: 21375289
2SLCO1B1NM_006446.4(SLCO1B1): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenicrs183501729GRCh37Chr 12, 21349909: 21349909

Expression for genes affiliated with Rotor Syndrome

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2BioGPS, 16Gene 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

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 52PharmGKB
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Pathways related to Rotor Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3SLCO1B1, SLCO1B3
2
Show member pathways
9.3SLCO1B3, SLCO1B1
3
Show member pathways
9.1ABCC2, SLCO1B1
49.1ABCC2, SLCO1B1
5
Show member pathways
Codeine and morphine metabolism39
9.1ABCC2, SLCO1B1
6
Show member pathways
8.5SLCO1B1, SLCO1B3, ABCC2
7
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
8
Show member pathways
8.5SLCO1B1, ABCC2, SLCO1B3
9
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
108.5ABCC2, SLCO1B1, SLCO1B3

Compounds for genes affiliated with Rotor Syndrome

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Sources:
30IUPHAR, 52PharmGKB, 25HMDB, 46Novoseek, 12DrugBank, 62Tocris Bioscience
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Compounds related to Rotor Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 139)
idCompoundScoreTop Affiliating Genes
1[3h]estradiol-17beta-glucuronide309.7SLCO1B3, SLCO1B1
2rifamycin sv309.7SLCO1B3, SLCO1B1
3simeprevir529.7SLCO1B3, SLCO1B1
4Varanic acid259.7SLCO1B3, SLCO1B1
5Allocholic acid259.7SLCO1B1, SLCO1B3
6Allochenodeoxycholic acid259.7SLCO1B1, SLCO1B3
77b,12a-Dihydroxycholanoic acid259.7SLCO1B1, SLCO1B3
87a-Hydroxy-5b-cholanic acid259.7SLCO1B1, SLCO1B3
93b,7a-Dihydroxy-5b-cholanoic acid259.7SLCO1B1, SLCO1B3
103b,7a,12a-Trihydroxy-5b-cholanoic acid259.7SLCO1B1, SLCO1B3
11Allodeoxycholic acid259.7SLCO1B3, SLCO1B1
12Isodeoxycholic acid259.7SLCO1B1, SLCO1B3
13Isoallolithocholic acid259.7SLCO1B1, SLCO1B3
14Hyodeoxycholic acid259.7SLCO1B1, SLCO1B3
15Hyocholic acid259.6SLCO1B1, SLCO1B3
16Glycochenodeoxycholate-3-sulfate259.6SLCO1B1, SLCO1B3
173b,7a,12a-Trihydroxy-5a-Cholanoic acid259.6SLCO1B1, SLCO1B3
183a,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.6SLCO1B3, SLCO1B1
191b,3a,12a-Trihydroxy-5b-cholanoic acid259.6SLCO1B1, SLCO1B3
2012b-Hydroxy-5b-cholanoic acid259.6SLCO1B1, SLCO1B3
2112a-Hydroxy-3-oxocholadienic acid259.6SLCO1B1, SLCO1B3
2212-Ketodeoxycholic acid259.6SLCO1B1, SLCO1B3
231,3,7,12-Tetrahydroxycholan-24-oic acid259.5SLCO1B1, SLCO1B3
241,3,12-Trihydroxycholan-24-oic acid259.5SLCO1B1, SLCO1B3
253a,4b,7a-Trihydroxy-5b-cholanoic acid259.5SLCO1B3, SLCO1B1
263b,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.4SLCO1B1, SLCO1B3
273b,12b-Dihydroxy-5b-cholanoic acid259.4SLCO1B1, SLCO1B3
283a,6b,7b,12b-Tetrahydroxy-5b-cholanoic acid259.3SLCO1B1, SLCO1B3
293a,6a,7b-Trihydroxy-5b-cholanoic acid259.3SLCO1B1, SLCO1B3
303a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid259.2SLCO1B1, SLCO1B3
313a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.0SLCO1B1, SLCO1B3
32bromosulfophthalein469.0SLCO1B3, SLCO1B1, ABCC2
33olmesartan46 30 1211.0ABCC2, SLCO1B1, SLCO1B3
34pitavastatin52 1210.0ABCC2, SLCO1B1, SLCO1B3
35oatp469.0SLCO1B1, SLCO1B3, ABCC2
36conjugated estrogens52 1210.0SLCO1B1, SLCO1B3, ABCC2
37Taurocholic acid25 129.9SLCO1B1, ABCC2, SLCO1B3
38rifampin52 129.9ABCC2, SLCO1B1, SLCO1B3
39estrone sulfate46 259.9SLCO1B3, SLCO1B1, ABCC2
40rosuvastatin46 52 30 1211.9SLCO1B1, ABCC2, SLCO1B3
41taurocholate468.9SLCO1B1, SLCO1B3, ABCC2
42digoxin46 62 52 25 1212.9SLCO1B3, SLCO1B1, ABCC2
43ursodeoxycholic acid46 25 1210.9SLCO1B3, ABCC2, SLCO1B1
44cholic acid46 30 25 1211.9ABCC2, SLCO1B3, SLCO1B1
45mycophenolate mofetil46 52 1210.9ABCC2, SLCO1B3, SLCO1B1
46chenodeoxycholic acid46 30 25 1211.9SLCO1B3, ABCC2, SLCO1B1
47rifampicin46 30 6210.9ABCC2, SLCO1B3, SLCO1B1
48pravastatin46 52 30 25 1212.9ABCC2, SLCO1B1, SLCO1B3
49atorvastatin46 52 30 25 1212.9ABCC2, SLCO1B1, SLCO1B3
50methotrexate52 46 1210.9SLCO1B3, SLCO1B1, ABCC2

GO Terms for genes affiliated with Rotor Syndrome

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17Gene Ontology
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Cellular components related to Rotor Syndrome according to GeneCards/GeneDecks:

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

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

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet