MCID: RTR013
MIFTS: 36

Rotor Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Rotor Syndrome

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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 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 Codeine and Morphine Pathway, Pharmacokinetics and Hepatic ABC Transporters. 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:64 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 20 42 21 22 44 61
Hyperbilirubinemia, Rotor Type 42 22 61
 
Rotor-Type Hyperbilirubinemia 20


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 Syndrome21 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:

7
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
Codeine and morphine metabolism37
9.3ABCC2, SLCO1B1
2
Show member pathways
9.3SLCO1B1, ABCC2
39.3SLCO1B1, ABCC2
4
Show member pathways
9.0SLCO1B3, SLCO1B1
5
Show member pathways
9.0SLCO1B3, SLCO1B1
6
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
7
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
88.5SLCO1B3, SLCO1B1, ABCC2
9
Show member pathways
8.5SLCO1B3, SLCO1B1, ABCC2
10
Show member pathways
8.5SLCO1B3, SLCO1B1, ABCC2

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-glucuronide299.4SLCO1B3, SLCO1B1
2rifamycin sv299.4SLCO1B3, SLCO1B1
3simeprevir509.4SLCO1B3, SLCO1B1
4Alpha-Muricholic acid259.4SLCO1B1, SLCO1B3
5Allolithocholic acid259.4SLCO1B1, SLCO1B3
6Allodeoxycholic acid259.4SLCO1B1, SLCO1B3
76a,12a-Dihydroxylithocholic acid259.4SLCO1B1, SLCO1B3
83b-Hydroxy-5-cholenoic acid259.4SLCO1B1, SLCO1B3
93b,7b,12a-Trihydroxy-5b-cholanoic acid259.4SLCO1B1, SLCO1B3
10Bisnorcholic acid259.4SLCO1B3, SLCO1B1
11Chenodeoxycholic acid 3-sulfate259.4SLCO1B3, SLCO1B1
12Sulfolithocholic acid259.4SLCO1B1, SLCO1B3
13Nutriacholic acid259.4SLCO1B1, SLCO1B3
14Murocholic acid259.4SLCO1B1, SLCO1B3
15Muricholic acid259.3SLCO1B1, SLCO1B3
16Isoursodeoxycholic acid259.3SLCO1B1, SLCO1B3
173b,7b,12a-Trihydroxy-5a-Cholanoic acid259.3SLCO1B1, SLCO1B3
183a,4b,7a-Trihydroxy-5b-cholanoic acid259.3SLCO1B3, SLCO1B1
191b,3a,7a-Trihydroxy-5b-cholanoic acid259.3SLCO1B1, SLCO1B3
201b,3a,12a-Trihydroxy-5b-cholanoic acid259.3SLCO1B1, SLCO1B3
2112b-Hydroxy-5b-cholanoic acid259.3SLCO1B1, SLCO1B3
2212a-Hydroxy-3-oxocholadienic acid259.3SLCO1B1, SLCO1B3
2312-Ketodeoxycholic acid259.2SLCO1B1, SLCO1B3
241,3,7,12-Tetrahydroxycholan-24-oic acid259.2SLCO1B1, SLCO1B3
253a,6a,7b-Trihydroxy-5b-cholanoic acid259.2SLCO1B3, SLCO1B1
263b,7a-Dihydroxy-5b-cholanoic acid259.1SLCO1B1, SLCO1B3
273b,7a,12a-Trihydroxy-5b-cholanoic acid259.1SLCO1B1, SLCO1B3
283a,6b,7b-Trihydroxy-5b-cholanoic acid259.0SLCO1B1, SLCO1B3
293a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.0SLCO1B1, SLCO1B3
30bromosulfophthalein449.0SLCO1B3, SLCO1B1, ABCC2
31olmesartan44 29 1211.0ABCC2, SLCO1B1, SLCO1B3
32pitavastatin50 1210.0ABCC2, SLCO1B1, SLCO1B3
33oatp449.0SLCO1B1, SLCO1B3, ABCC2
34conjugated estrogens50 1210.0SLCO1B1, SLCO1B3, ABCC2
35Taurocholic acid25 129.9SLCO1B3, SLCO1B1, ABCC2
36rifampin50 129.9ABCC2, SLCO1B1, SLCO1B3
37estrone sulfate44 259.9SLCO1B3, SLCO1B1, ABCC2
38rosuvastatin44 50 29 1211.9SLCO1B1, ABCC2, SLCO1B3
39taurocholate448.9SLCO1B1, SLCO1B3, ABCC2
40digoxin44 60 50 25 1212.9SLCO1B3, SLCO1B1, ABCC2
41ursodeoxycholic acid44 25 1210.9SLCO1B3, ABCC2, SLCO1B1
423a,6b,7b,12b-Tetrahydroxy-5b-cholanoic acid258.9SLCO1B1, SLCO1B3
43cholic acid44 29 25 1211.9ABCC2, SLCO1B3, SLCO1B1
44mycophenolate mofetil44 50 1210.9ABCC2, SLCO1B3, SLCO1B1
45chenodeoxycholic acid44 29 25 1211.9SLCO1B3, ABCC2, SLCO1B1
46rifampicin44 29 6010.9SLCO1B3, SLCO1B1, ABCC2
47pravastatin44 50 29 25 1212.9SLCO1B1, ABCC2, SLCO1B3
48atorvastatin44 50 29 25 1212.9ABCC2, SLCO1B1, SLCO1B3
49methotrexate50 44 1210.9SLCO1B3, SLCO1B1, ABCC2
503a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid258.7SLCO1B1, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet