MCID: HYP554
MIFTS: 35

Hyperbilirubinemia, Rotor Type, Digenic malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases categories

Aliases & Classifications for Hyperbilirubinemia, Rotor Type, Digenic

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 19GeneReviews, 20GeneTests, 43Novoseek, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hyperbilirubinemia, Rotor Type, Digenic, Aliases & Descriptions:

Name: Hyperbilirubinemia, Rotor Type, Digenic 45 10
Rotor Syndrome 19 41 20 21 43 47 60
 
Hyperbilirubinemia, Rotor Type 45 41 21 47
Rotor-Type Hyperbilirubinemia 19


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
rotor syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 237450
Orphanet47 3111
ICD10 via Orphanet26 E80.6
UMLS via Orphanet61 C0220991

Summaries for Hyperbilirubinemia, Rotor Type, Digenic

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OMIM:45 The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is... (237450) more...

MalaCards based summary: Hyperbilirubinemia, Rotor Type, Digenic, also known as rotor syndrome, is related to gilbert syndrome and crigler-najjar syndrome, type ii, and has symptoms including abnormality of the liver, abdominal pain and abnormality of the gastric mucosa. An important gene associated with Hyperbilirubinemia, Rotor Type, Digenic is SLCO1B3 (solute carrier organic anion transporter family, member 1B3), and among its related pathways are Synthesis of bile acids and bile salts and Bile secretion. 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.

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.

NIH Rare Diseases:41 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

GeneReviews summary for rotor

Related Diseases for Hyperbilirubinemia, Rotor Type, Digenic

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Diseases related to Hyperbilirubinemia, Rotor Type, Digenic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome10.3
2crigler-najjar syndrome, type ii10.1
3dubin-johnson syndrome10.1
4thalassemia10.1
5cerebritis10.1
6aneurysm10.1
7cerebral aneurysms10.1

Graphical network of diseases related to Hyperbilirubinemia, Rotor Type, Digenic:



Diseases related to hyperbilirubinemia, rotor type, digenic

Symptoms for Hyperbilirubinemia, Rotor Type, Digenic

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Symptoms by clinical synopsis from OMIM:

237450

Clinical features from OMIM:

237450

Symptoms:

 47
  • functional anomalies of the liver and the biliary tract
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • acute abdominal pain/colic
  • fever/chilling

HPO human phenotypes related to Hyperbilirubinemia, Rotor Type, Digenic:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 abdominal pain occasional (7.5%) HP:0002027
3 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
4 abnormality of temperature regulation occasional (7.5%) HP:0004370
5 autosomal recessive inheritance HP:0000007
6 abnormality of the skeletal system HP:0000924
7 jaundice HP:0000952
8 abnormality of skin pigmentation HP:0001000
9 conjugated hyperbilirubinemia HP:0002908

Drugs & Therapeutics for Hyperbilirubinemia, Rotor Type, Digenic

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Drug clinical trials:

Search ClinicalTrials for Hyperbilirubinemia, Rotor Type, Digenic

Search NIH Clinical Center for Hyperbilirubinemia, Rotor Type, Digenic

Genetic Tests for Hyperbilirubinemia, Rotor Type, Digenic

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Genetic tests related to Hyperbilirubinemia, Rotor Type, Digenic:

id Genetic test Affiliating Genes
1 Rotor Syndrome20 SLCO1B3

Anatomical Context for Hyperbilirubinemia, Rotor Type, Digenic

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MalaCards organs/tissues related to Hyperbilirubinemia, Rotor Type, Digenic:

31
Skin, Eye, Liver

Animal Models for Hyperbilirubinemia, Rotor Type, Digenic or affiliated genes

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Publications for Hyperbilirubinemia, Rotor Type, Digenic

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Variations for Hyperbilirubinemia, Rotor Type, Digenic

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Clinvar genetic disease variations for Hyperbilirubinemia, Rotor Type, Digenic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SLCO1B1NM_006446.4(SLCO1B1): c.1738C> T (p.Arg580Ter)single nucleotide variantPathogenicrs71581941GRCh37Chr 12, 21375289: 21375289
2SLCO1B1SLCO1B1, IVS5DS, G-T, +1single nucleotide variantPathogenic
3SLCO1B1NM_006446.4(SLCO1B1): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenicrs183501729GRCh37Chr 12, 21349909: 21349909
4SLCO1B3SLCO1B3, 7.2-KB DELdeletionPathogenic
5SLCO1B3SLCO1B3, ARG253TERsingle nucleotide variantPathogenic

Expression for genes affiliated with Hyperbilirubinemia, Rotor Type, Digenic

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Search GEO for disease gene expression data for Hyperbilirubinemia, Rotor Type, Digenic.

Pathways for genes affiliated with Hyperbilirubinemia, Rotor Type, Digenic

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Pathways related to Hyperbilirubinemia, Rotor Type, Digenic according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0SLCO1B3, SLCO1B1
29.0SLCO1B3, SLCO1B1
3
Show member pathways
9.0SLCO1B1, SLCO1B3
4
Show member pathways
9.0SLCO1B3, SLCO1B1
5
Show member pathways
9.0SLCO1B3, SLCO1B1
6
Show member pathways
9.0SLCO1B3, SLCO1B1

Compounds for genes affiliated with Hyperbilirubinemia, Rotor Type, Digenic

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Sources:
28IUPHAR, 49PharmGKB, 43Novoseek, 24HMDB, 12DrugBank
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Compounds related to Hyperbilirubinemia, Rotor Type, Digenic according to GeneCards Suite gene sharing:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1[3h]estradiol-17beta-glucuronide289.5SLCO1B1, SLCO1B3
2rifamycin sv289.5SLCO1B3, SLCO1B1
3simeprevir499.5SLCO1B3, SLCO1B1
4bromosulfophthalein439.5SLCO1B3, SLCO1B1
57a-Hydroxy-5b-cholanic acid249.5SLCO1B1, SLCO1B3
67b,12a-Dihydroxycholanoic acid249.5SLCO1B3, SLCO1B1
7Chenodeoxycholic acid 3-sulfate249.5SLCO1B3, SLCO1B1
8Chenodeoxycholic acid disulfate249.5SLCO1B3, SLCO1B1
9Chenodeoxycholic acid sulfate249.5SLCO1B3, SLCO1B1
107a-Hydroxy-3-oxo-5b-cholanoic acid249.5SLCO1B1, SLCO1B3
117-Hydroxy-3-oxocholanoic acid249.5SLCO1B1, SLCO1B3
127-Ketodeoxycholic acid249.5SLCO1B3, SLCO1B1
137-Sulfocholic acid249.4SLCO1B3, SLCO1B1
147a,12a-Dihydroxy-3-oxo-4-cholenoic acid249.4SLCO1B3, SLCO1B1
157a,12b-dihydroxy-5b-Cholan-24-oic acid249.4SLCO1B3, SLCO1B1
16Coprocholic acid249.4SLCO1B3, SLCO1B1
17Deoxycholic acid disulfate249.4SLCO1B3, SLCO1B1
18Sulfolithocholic acid249.4SLCO1B3, SLCO1B1
19Trihydroxycoprostanoic acid249.4SLCO1B3, SLCO1B1
20Ursocholic acid249.4SLCO1B3, SLCO1B1
21Ursodeoxycholic acid 3-sulfate249.4SLCO1B3, SLCO1B1
22Varanic acid249.4SLCO1B3, SLCO1B1
23Nutriacholic acid249.4SLCO1B1, SLCO1B3
24Glycochenodeoxycholate-3-sulfate249.4SLCO1B3, SLCO1B1
25Hyocholic acid249.4SLCO1B3, SLCO1B1
26Hyodeoxycholic acid249.4SLCO1B3, SLCO1B1
27Murocholic acid249.4SLCO1B3, SLCO1B1
28(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid249.4SLCO1B3, SLCO1B1
293-Oxo-4,6-choladienoic acid249.4SLCO1B3, SLCO1B1
303-Oxocholic acid249.4SLCO1B3, SLCO1B1
313-Sulfodeoxycholic acid249.4SLCO1B3, SLCO1B1
323a,12b-Dihydroxy-5b-cholanoic acid249.4SLCO1B3, SLCO1B1
333a,4b,12a-Trihydroxy-5b-cholanoic acid249.3SLCO1B3, SLCO1B1
343,7-Dihydroxy-12-oxocholanoic acid249.3SLCO1B1, SLCO1B3
351,3,12-Trihydroxycholan-24-oic acid249.3SLCO1B3, SLCO1B1
361,3,7,12-Tetrahydroxycholan-24-oic acid249.3SLCO1B3, SLCO1B1
372b,3a,7a,12a-Tetrahydroxy-5b-cholanoic acid249.3SLCO1B3, SLCO1B1
382b,3a,7a-Trihydroxy-5b-cholanoic acid249.3SLCO1B3, SLCO1B1
393a,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.3SLCO1B3, SLCO1B1
403b,12a-Dihydroxy-5a-cholanoic acid249.3SLCO1B1, SLCO1B3
413b,12a-Dihydroxy-5b-cholanoic acid249.2SLCO1B3, SLCO1B1
423b,12b-Dihydroxy-5b-cholanoic acid249.2SLCO1B3, SLCO1B1
433b,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.2SLCO1B3, SLCO1B1
446a,12a-Dihydroxylithocholic acid249.1SLCO1B3, SLCO1B1
453a,7b,12b-Trihydroxy-5b-cholanoic acid249.1SLCO1B1, SLCO1B3
463a,4b,7a-Trihydroxy-5b-cholanoic acid249.0SLCO1B3, SLCO1B1
473a,7b,12a-Trihydroxy-5a-Cholanoic acid249.0SLCO1B3, SLCO1B1
48mycophenolate mofetil43 49 1211.0SLCO1B3, SLCO1B1, LST1
493a,7a,12b-Trihydroxy-5b-cholanoic acid248.9SLCO1B3, SLCO1B1
503a,7a-Dihydroxycholanoic acid248.7SLCO1B3, SLCO1B1

GO Terms for genes affiliated with Hyperbilirubinemia, Rotor Type, Digenic

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Cellular components related to Hyperbilirubinemia, Rotor Type, Digenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.0SLCO1B3, SLCO1B1

Biological processes related to Hyperbilirubinemia, Rotor Type, Digenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1organic anion transportGO:00157119.0SLCO1B3, SLCO1B1
2bile acid metabolic processGO:00082069.0SLCO1B3, SLCO1B1
3sodium-independent organic anion transportGO:00432528.9SLCO1B3, SLCO1B1
4bile acid and bile salt transportGO:00157218.7SLCO1B3, SLCO1B1

Products for genes affiliated with Hyperbilirubinemia, Rotor Type, Digenic

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Sources for Hyperbilirubinemia, Rotor Type, Digenic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet