MCID: RTR013
MIFTS: 36

Rotor Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Rotor Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 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: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:65 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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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

rotor syndrome 19 43 20 21 45 62
hyperbilirubinemia, rotor type 43 21
rotor-type hyperbilirubinemia 19


Related Diseases for Rotor Syndrome

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17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Rotor Syndrome

Search NIH Clinical Center 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

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33MalaCards
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MalaCards organs/tissues related to Rotor Syndrome:

33
Skin, Eye, Liver

Animal Models for Rotor Syndrome or affiliated genes

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Publications for Rotor Syndrome

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52PubMed
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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, 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

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 51PharmGKB
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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 metabolism38
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:
29IUPHAR, 51PharmGKB, 24HMDB, 45Novoseek, 11DrugBank, 61Tocris 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-glucuronide299.7SLCO1B3, SLCO1B1
2rifamycin sv299.7SLCO1B3, SLCO1B1
3simeprevir519.7SLCO1B3, SLCO1B1
4Varanic acid249.7SLCO1B3, SLCO1B1
5Allocholic acid249.7SLCO1B1, SLCO1B3
6Allochenodeoxycholic acid249.7SLCO1B1, SLCO1B3
77b,12a-Dihydroxycholanoic acid249.7SLCO1B1, SLCO1B3
87a-Hydroxy-5b-cholanic acid249.7SLCO1B1, SLCO1B3
93b,7a-Dihydroxy-5b-cholanoic acid249.7SLCO1B1, SLCO1B3
103b,7a,12a-Trihydroxy-5b-cholanoic acid249.7SLCO1B1, SLCO1B3
11Allodeoxycholic acid249.7SLCO1B3, SLCO1B1
12Isodeoxycholic acid249.7SLCO1B1, SLCO1B3
13Isoallolithocholic acid249.7SLCO1B1, SLCO1B3
14Hyodeoxycholic acid249.7SLCO1B1, SLCO1B3
15Hyocholic acid249.6SLCO1B1, SLCO1B3
16Glycochenodeoxycholate-3-sulfate249.6SLCO1B1, SLCO1B3
173b,7a,12a-Trihydroxy-5a-Cholanoic acid249.6SLCO1B1, SLCO1B3
183a,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.6SLCO1B3, SLCO1B1
191b,3a,12a-Trihydroxy-5b-cholanoic acid249.6SLCO1B1, SLCO1B3
2012b-Hydroxy-5b-cholanoic acid249.6SLCO1B1, SLCO1B3
2112a-Hydroxy-3-oxocholadienic acid249.6SLCO1B1, SLCO1B3
2212-Ketodeoxycholic acid249.6SLCO1B1, SLCO1B3
231,3,7,12-Tetrahydroxycholan-24-oic acid249.5SLCO1B1, SLCO1B3
241,3,12-Trihydroxycholan-24-oic acid249.5SLCO1B1, SLCO1B3
253a,4b,7a-Trihydroxy-5b-cholanoic acid249.5SLCO1B3, SLCO1B1
263b,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.4SLCO1B1, SLCO1B3
273b,12b-Dihydroxy-5b-cholanoic acid249.4SLCO1B1, SLCO1B3
283a,6b,7b,12b-Tetrahydroxy-5b-cholanoic acid249.3SLCO1B1, SLCO1B3
293a,6a,7b-Trihydroxy-5b-cholanoic acid249.3SLCO1B1, SLCO1B3
303a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid249.2SLCO1B1, SLCO1B3
313a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.0SLCO1B1, SLCO1B3
32bromosulfophthalein459.0SLCO1B3, SLCO1B1, ABCC2
33olmesartan45 29 1111.0ABCC2, SLCO1B1, SLCO1B3
34pitavastatin51 1110.0ABCC2, SLCO1B1, SLCO1B3
35oatp459.0SLCO1B1, SLCO1B3, ABCC2
36conjugated estrogens51 1110.0SLCO1B1, SLCO1B3, ABCC2
37Taurocholic acid24 119.9SLCO1B1, ABCC2, SLCO1B3
38rifampin51 119.9ABCC2, SLCO1B1, SLCO1B3
39estrone sulfate45 249.9SLCO1B3, SLCO1B1, ABCC2
40rosuvastatin45 51 29 1111.9SLCO1B1, ABCC2, SLCO1B3
41taurocholate458.9SLCO1B1, SLCO1B3, ABCC2
42digoxin45 61 51 24 1112.9SLCO1B3, SLCO1B1, ABCC2
43ursodeoxycholic acid45 24 1110.9SLCO1B3, ABCC2, SLCO1B1
44cholic acid45 29 24 1111.9ABCC2, SLCO1B3, SLCO1B1
45mycophenolate mofetil45 51 1110.9ABCC2, SLCO1B3, SLCO1B1
46chenodeoxycholic acid45 29 24 1111.9SLCO1B3, ABCC2, SLCO1B1
47rifampicin45 29 6110.9ABCC2, SLCO1B3, SLCO1B1
48pravastatin45 51 29 24 1112.9ABCC2, SLCO1B1, SLCO1B3
49atorvastatin45 51 29 24 1112.9ABCC2, SLCO1B1, SLCO1B3
50methotrexate51 45 1110.9SLCO1B3, SLCO1B1, ABCC2

GO Terms for genes affiliated with Rotor Syndrome

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet