MCID: HYP554
MIFTS: 37

Hyperbilirubinemia, Rotor Type, Digenic malady

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Hyperbilirubinemia, Rotor Type, Digenic

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Aliases & Descriptions for Hyperbilirubinemia, Rotor Type, Digenic:

Name: Hyperbilirubinemia, Rotor Type, Digenic 49 11
Rotor Syndrome 21 45 22 23 47 51 67 24 65
Hyperbilirubinemia, Rotor Type 45 23 51 67
 
Rotor-Type Hyperbilirubinemia 21 45
Rotor Type Hyperbilirubinemia 22
Hblrr 67

Characteristics:

Orphanet epidemiological data:

51
rotor syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

61
hyperbilirubinemia, rotor type, digenic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 237450
Orphanet51 3111
ICD10 via Orphanet28 E80.6
UMLS via Orphanet66 C0220991
MedGen34 C0220991
MeSH36 D006932
UMLS65 C0220991

Summaries for Hyperbilirubinemia, Rotor Type, Digenic

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NIH Rare Diseases:45 Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. the buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. jaundice is usually evident in infancy or early childhood, and it may come and go. rotor syndrome is caused by having mutations in both the slco1b1 and slco1b3 genes and is inherited in an autosomal recessive manner. the disorder is generally considered benign, and no treatment is needed. last updated: 4/8/2015

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, abnormality of temperature regulation 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 Transport of vitamins, nucleosides, and related molecules and Synthesis of bile acids and bile salts. Affiliated tissues include skin, eye and liver.

UniProtKB/Swiss-Prot:67 Hyperbilirubinemia, Rotor type: An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal.

Genetics Home Reference:23 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.

OMIM:49 The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is... (237450) more...

GeneReviews summary for NBK114805

Related Diseases for Hyperbilirubinemia, Rotor Type, Digenic

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Graphical network of the top 20 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:

 51
  • 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 8)
id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 abnormality of temperature regulation occasional (7.5%) HP:0004370
3 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
4 abdominal pain occasional (7.5%) HP:0002027
5 conjugated hyperbilirubinemia HP:0002908
6 abnormality of skin pigmentation HP:0001000
7 jaundice HP:0000952
8 abnormality of the skeletal system HP:0000924

Drugs & Therapeutics for Hyperbilirubinemia, Rotor Type, Digenic

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 SLCO1B3, SLCO1B1

Anatomical Context for Hyperbilirubinemia, Rotor Type, Digenic

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

33
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:

5
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:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
2
Show member pathways
9.3SLCO1B1, SLCO1B3
3
Show member pathways
9.3ABCC2, SLCO1B1
4
Show member pathways
9.3ABCC2, SLCO1B1
5
Show member pathways
9.3ABCC2, SLCO1B1
69.3ABCC2, SLCO1B1
7
Show member pathways
8.8ABCC2, SLCO1B1, SLCO1B3
88.8ABCC2, SLCO1B1, SLCO1B3
9
Show member pathways
8.8ABCC2, SLCO1B1, SLCO1B3
10
Show member pathways
8.8ABCC2, SLCO1B1, SLCO1B3
11
Show member pathways
8.8ABCC2, SLCO1B1, SLCO1B3

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
1membraneGO:00160208.8ABCC2, SLCO1B1, SLCO1B3

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

idNameGO IDScoreTop Affiliating Genes
1bile acid metabolic processGO:00082069.3SLCO1B1, SLCO1B3

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

idNameGO IDScoreTop Affiliating Genes
1bile acid transmembrane transporter activityGO:00151259.3SLCO1B1, SLCO1B3

Sources for Hyperbilirubinemia, Rotor Type, Digenic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet