MCID: HYP554
MIFTS: 35

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 51 12
Rotor Syndrome 23 47 24 25 53 69 26 49 67
Hyperbilirubinemia, Rotor Type 51 47 25 53 69
 
Rotor-Type Hyperbilirubinemia 23 47
Rotor Type Hyperbilirubinemia 24
Hblrr 69

Characteristics:

Orphanet epidemiological data:

53
rotor syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
hyperbilirubinemia, rotor type, digenic:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: penetrance for this disorder is complete and is the same for males and females...


Classifications:



External Ids:

OMIM51 237450
Orphanet53 ORPHA3111
UMLS via Orphanet68 C0220991
ICD10 via Orphanet30 E80.6
MedGen36 C0220991
MeSH38 D006932

Summaries for Hyperbilirubinemia, Rotor Type, Digenic

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NIH Rare Diseases:47 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, abdominal pain and abnormality of the gastric mucosa. An important gene associated with Hyperbilirubinemia, Rotor Type, Digenic is SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1), and among its related pathways are Hepatic ABC Transporters and Blood-Brain Barrier Pathway: Anatomy. Affiliated tissues include skin, eye and liver.

Genetics Home Reference:25 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:51 The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is... (237450) more...

UniProtKB/Swiss-Prot:69 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.

GeneReviews for NBK114805

Related Diseases for Hyperbilirubinemia, Rotor Type, Digenic

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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

Human phenotypes related to Hyperbilirubinemia, Rotor Type, Digenic:

 63 53 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the liver63 hallmark (90%) HP:0001392
2 abdominal pain63 53 occasional (7.5%) Occasional (29-5%) HP:0002027
3 abnormality of the gastric mucosa63 53 occasional (7.5%) Occasional (29-5%) HP:0004295
4 abnormality of temperature regulation63 occasional (7.5%) HP:0004370
5 abnormality of the skeletal system63 HP:0000924
6 jaundice63 53 Very frequent (99-80%) HP:0000952
7 abnormality of skin pigmentation63 HP:0001000
8 conjugated hyperbilirubinemia63 53 Very frequent (99-80%) HP:0002908
9 fever53 Occasional (29-5%)

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 Syndrome26 24 SLCO1B1, SLCO1B3

Anatomical Context for Hyperbilirubinemia, Rotor Type, Digenic

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

35
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)SNVPathogenicrs71581941GRCh37Chr 12, 21375289: 21375289
2SLCO1B1SLCO1B1, IVS5DS, G-T, +1SNVPathogenicChr na, -1: -1
3SLCO1B1NM_006446.4(SLCO1B1): c.757C> T (p.Arg253Ter)SNVPathogenicrs183501729GRCh37Chr 12, 21349909: 21349909
4SLCO1B3SLCO1B3, 7.2-KB DELdeletionPathogenicChr na, -1: -1
5SLCO1B3SLCO1B3, ARG253TERSNVPathogenicChr na, -1: -1
6SLCO1B1NM_006446.4(SLCO1B1): c.521T> C (p.Val174Ala)SNVdrug responsers4149056GRCh37Chr 12, 21331549: 21331549

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3ABCC2, SLCO1B1
2
Show member pathways
9.3ABCC2, SLCO1B1
39.3ABCC2, SLCO1B1
4
Show member pathways
9.3ABCC2, SLCO1B1
5
Show member pathways
9.0SLCO1B1, SLCO1B3
78.5ABCC2, SLCO1B1, SLCO1B3
8
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
9
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
10
Show member pathways
8.5ABCC2, 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
1basolateral plasma membraneGO:00163239.2SLCO1B1, SLCO1B3
2integral component of plasma membraneGO:00058878.5ABCC2, SLCO1B1, SLCO1B3

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

idNameGO IDScoreTop Affiliating Genes
1thyroid hormone transportGO:00703279.3ABCC2, SLCO1B1
2organic anion transportGO:00157119.3SLCO1B1, SLCO1B3
3sodium-independent organic anion transportGO:00432529.1SLCO1B1, SLCO1B3
4bile acid metabolic processGO:00082069.0SLCO1B1, SLCO1B3
5bile acid and bile salt transportGO:00157218.7SLCO1B1, SLCO1B3

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

idNameGO IDScoreTop Affiliating Genes
1organic anion transmembrane transporter activityGO:00085149.4ABCC2, SLCO1B3
2bile acid transmembrane transporter activityGO:00151259.0SLCO1B1, SLCO1B3
3sodium-independent organic anion transmembrane transporter activityGO:00153478.7SLCO1B1, SLCO1B3

Sources for Hyperbilirubinemia, Rotor Type, Digenic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet