MCID: RTR013
MIFTS: 37

Rotor Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Rotor Syndrome

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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 based summary: Rotor Syndrome, also known as hyperbilirubinemia, rotor type, is related to hyperbilirubinemia, rotor type, digenic and gilbert syndrome. An important gene associated with Rotor Syndrome is SLCO1B1 (solute carrier organic anion transporter family, member 1B1), and among its related pathways are Hepatic ABC Transporters and Drug Induction of Bile Acid Pathway. The compounds [3h]estradiol-17beta-glucuronide and rifamycin sv have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and colon.

NIH Rare Diseases:42 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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Rotor Syndrome, Aliases & Descriptions:

Name: Rotor Syndrome 19 42 20 21 44 62
Hyperbilirubinemia, Rotor Type 42 21 62
 
Rotor-Type Hyperbilirubinemia 19


Classifications:

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


Related Diseases for Rotor Syndrome

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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
1hyperbilirubinemia, rotor type, digenic10.3
2gilbert syndrome10.3
3thalassemia10.1
4beta thalassemia10.1
5dubin-johnson syndrome10.1
6cerebritis10.1
7colon cancer10.1
8crigler najjar syndrome, type 210.1
9aneurysm10.1
10cerebral aneurysms10.1
11bilirubin metabolic disorder9.9SLCO1B1, ABCC2
12galactosemia9.8SLCO1B1, ABCC2
13cholestasis9.8ABCC2, SLCO1B1
14primary biliary cirrhosis9.7SLCO1B1, ABCC2
15liver cancer9.6SLCO1B3, 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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Drug clinical trials:

Search ClinicalTrials for Rotor Syndrome

Search NIH Clinical Center for Rotor Syndrome

Genetic Tests for Rotor Syndrome

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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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MalaCards organs/tissues related to Rotor Syndrome:

32
Eye, Skin, Colon, Liver

Animal Models for Rotor Syndrome or affiliated genes

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Publications for Rotor Syndrome

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Articles related to Rotor Syndrome:

(show all 14)
idTitleAuthorsYear
1
Management of a patient with colon cancer and rotor syndrome: A case report. (24520296)
2014
2
Loss of OATP1B3 function causes Rotor syndrome: implications for potential use of inhibitors in cancer. (22954695)
2012
3
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. (22232210)
2012
4
A child with rotor syndrome and Capillaria philippinensis: case report and review of literature. (21980780)
2011
5
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). (20955959)
2010
6
Anesthetic management of a patient with rotor syndrome for cerebral aneurysm clipping. (19098629)
2009
7
Coinheritance of Rotor syndrome, G-6-PD deficiency, and heterozygous beta thalassemia: a possible genetic interaction. (11568527)
2001
8
Clinical quiz. Dubin-Johnson syndrome or Rotor syndrome. (10507830)
1999
9
Diagnostic approach of Rotor syndrome with cholescintigraphy. (9298301)
1997
10
Cholescintigraphy in the diagnosis of Rotor syndrome. (9152529)
1997
11
Cholescintigraphy in the diagnosis of Rotor syndrome. (8195868)
1994
12
Rotor Syndrome (23236639)
1993
13
Impaired clearance of cholephilic anions in Rotor syndrome. (6880319)
1983
14
Rotor syndrome, a family study. (4456510)
1974

Variations for Rotor Syndrome

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Clinvar genetic disease variations for Rotor Syndrome:

6
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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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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Pathways related to Rotor Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3ABCC2, SLCO1B1
29.3ABCC2, SLCO1B1
3
Show member pathways
Codeine and morphine metabolism37
9.3ABCC2, SLCO1B1
4
Show member pathways
9.0SLCO1B1, SLCO1B3
5
Show member pathways
9.0SLCO1B3, SLCO1B1
6
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
7
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
88.5ABCC2, SLCO1B1, SLCO1B3
9
Show member pathways
8.5SLCO1B1, SLCO1B3, ABCC2
10
Show member pathways
8.5SLCO1B1, ABCC2, SLCO1B3

Compounds for genes affiliated with Rotor Syndrome

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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-glucuronide289.4SLCO1B3, SLCO1B1
2rifamycin sv289.4SLCO1B3, SLCO1B1
3simeprevir509.4SLCO1B3, SLCO1B1
4Allolithocholic acid249.4SLCO1B1, SLCO1B3
5Allodeoxycholic acid249.4SLCO1B1, SLCO1B3
6Allocholic acid249.4SLCO1B1, SLCO1B3
73b-Hydroxy-5-cholenoic acid249.4SLCO1B1, SLCO1B3
83b,7b,12a-Trihydroxy-5b-cholanoic acid249.4SLCO1B1, SLCO1B3
93b,7b,12a-Trihydroxy-5a-Cholanoic acid249.4SLCO1B1, SLCO1B3
10Alpha-Muricholic acid249.4SLCO1B3, SLCO1B1
11Bisnorcholic acid249.4SLCO1B3, SLCO1B1
12Nutriacholic acid249.4SLCO1B1, SLCO1B3
13Murocholic acid249.4SLCO1B1, SLCO1B3
14Muricholic acid249.4SLCO1B1, SLCO1B3
15Isoursodeoxycholic acid249.3SLCO1B1, SLCO1B3
16Isolithocholic acid249.3SLCO1B1, SLCO1B3
173b,7a-Dihydroxy-5b-cholanoic acid249.3SLCO1B1, SLCO1B3
183a,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.3SLCO1B3, SLCO1B1
191b,3a,12a-Trihydroxy-5b-cholanoic acid249.3SLCO1B1, SLCO1B3
2012b-Hydroxy-5b-cholanoic acid249.3SLCO1B1, SLCO1B3
2112a-Hydroxy-3-oxocholadienic acid249.3SLCO1B1, SLCO1B3
2212-Ketodeoxycholic acid249.3SLCO1B1, SLCO1B3
231,3,7,12-Tetrahydroxycholan-24-oic acid249.2SLCO1B1, SLCO1B3
241,3,12-Trihydroxycholan-24-oic acid249.2SLCO1B1, SLCO1B3
253a,4b,7a-Trihydroxy-5b-cholanoic acid249.2SLCO1B3, SLCO1B1
263b,7a,12a-Trihydroxy-5b-cholanoic acid249.1SLCO1B1, SLCO1B3
273b,7a,12a-Trihydroxy-5a-Cholanoic acid249.1SLCO1B1, SLCO1B3
283a,6b,7b,12b-Tetrahydroxy-5b-cholanoic acid249.0SLCO1B1, SLCO1B3
293a,6a,7b-Trihydroxy-5b-cholanoic acid249.0SLCO1B1, SLCO1B3
30bromosulfophthalein449.0SLCO1B3, SLCO1B1, ABCC2
31olmesartan44 28 1111.0ABCC2, SLCO1B1, SLCO1B3
32pitavastatin50 1110.0ABCC2, SLCO1B1, SLCO1B3
33oatp449.0SLCO1B1, SLCO1B3, ABCC2
34conjugated estrogens50 1110.0SLCO1B1, SLCO1B3, ABCC2
35Taurocholic acid24 119.9SLCO1B3, SLCO1B1, ABCC2
36rifampin50 119.9ABCC2, SLCO1B1, SLCO1B3
37estrone sulfate44 249.9SLCO1B3, SLCO1B1, ABCC2
38rosuvastatin44 50 28 1111.9SLCO1B1, ABCC2, SLCO1B3
39taurocholate448.9SLCO1B1, SLCO1B3, ABCC2
40digoxin44 61 50 24 1112.9SLCO1B3, SLCO1B1, ABCC2
41ursodeoxycholic acid44 24 1110.9SLCO1B3, ABCC2, SLCO1B1
423a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid248.9SLCO1B1, SLCO1B3
43cholic acid44 28 24 1111.9ABCC2, SLCO1B3, SLCO1B1
44mycophenolate mofetil44 50 1110.9ABCC2, SLCO1B3, SLCO1B1
45chenodeoxycholic acid44 28 24 1111.9SLCO1B3, ABCC2, SLCO1B1
46rifampicin44 28 6110.9SLCO1B3, SLCO1B1, ABCC2
47pravastatin44 50 28 24 1112.9SLCO1B1, ABCC2, SLCO1B3
48atorvastatin44 50 28 24 1112.9ABCC2, SLCO1B1, SLCO1B3
49methotrexate50 44 1110.9SLCO1B3, SLCO1B1, ABCC2
503a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid248.7SLCO1B1, SLCO1B3

GO Terms for genes affiliated with Rotor Syndrome

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Cellular components related to Rotor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.0SLCO1B3, 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:0157119.1SLCO1B3, SLCO1B1
2sodium-independent organic anion transportGO:0432529.0SLCO1B3, SLCO1B1
3bile acid and bile salt transportGO:0157218.9SLCO1B1, SLCO1B3
4bile acid metabolic processGO:0082068.7SLCO1B3, 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:0085149.1SLCO1B3, ABCC2

Products for genes affiliated with Rotor Syndrome

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Sources for Rotor Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet