HBLRR
MCID: HYP554
MIFTS: 35

Hyperbilirubinemia, Rotor Type, Digenic (HBLRR) 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 52 12
Rotor Syndrome 23 48 24 25 54 70 27 50 68
Hyperbilirubinemia, Rotor Type 52 48 25 54 70
 
Rotor-Type Hyperbilirubinemia 23 48
Rotor Type Hyperbilirubinemia 24
Hblrr 70

Characteristics:

Orphanet epidemiological data:

54
rotor syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
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:

OMIM52 237450
Orphanet54 ORPHA3111
UMLS via Orphanet69 C0220991
ICD10 via Orphanet31 E80.6
MedGen37 C0220991
MeSH39 D006932

Summaries for Hyperbilirubinemia, Rotor Type, Digenic

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NIH Rare Diseases:48 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 icterus, icterus and Array. 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 Taxane Pathway, Pharmacokinetics and Hepatic ABC Transporters. 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:52 The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is... (237450) more...

UniProtKB/Swiss-Prot:70 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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Diseases related to Hyperbilirubinemia, Rotor Type, Digenic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome11.5
2crigler-najjar syndrome, type ii10.8
3eclampsia9.8ABCC2, SLCO1B1
4mitochondrial dna depletion syndrome 79.8ABCC2, SLCO1B1
5dubin-johnson syndrome9.7
6thalassemia9.7
7cerebritis9.7
8aneurysm9.7
9cerebral aneurysms9.7
10pyelitis9.7ABCC2, SLCO1B1
11atrial fibrillation, familial, 129.6ABCC2, SLCO1B1, SLCO1B3
12chronic rheumatic pericarditis9.6ABCC2, SLCO1B1, SLCO1B3

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



Diseases related to hyperbilirubinemia, rotor type, digenic

Symptoms & Phenotypes 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:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice64 54 Very frequent (99-80%) HP:0000952
2 fever64 54 Occasional (29-5%) HP:0001945
3 abdominal pain64 54 Occasional (29-5%) HP:0002027
4 conjugated hyperbilirubinemia64 54 Very frequent (99-80%) HP:0002908
5 abnormality of the gastric mucosa64 54 Occasional (29-5%) HP:0004295
6 abnormality of the skeletal system64 HP:0000924
7 abnormality of skin pigmentation64 HP:0001000

UMLS symptoms related to Hyperbilirubinemia, Rotor Type, Digenic:


icterus

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 Syndrome27 24 SLCO1B3

Anatomical Context for Hyperbilirubinemia, Rotor Type, Digenic

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

36
Skin, Eye, Liver

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, +1SNVPathogenic
3SLCO1B1NM_ 006446.4(SLCO1B1): c.757C> T (p.Arg253Ter)SNVPathogenicrs183501729GRCh37Chr 12, 21349909: 21349909
4SLCO1B3SLCO1B3, 7.2-KB DELdeletionPathogenic
5SLCO1B3SLCO1B3, ARG253TERSNVPathogenic
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:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.3ABCC2, SLCO1B3
2
Show member pathways
9.1ABCC2, SLCO1B1
3
Show member pathways
9.1ABCC2, SLCO1B1
4
Show member pathways
9.1ABCC2, SLCO1B1
5
Show member pathways
9.1ABCC2, SLCO1B1
69.1ABCC2, SLCO1B1
7
Show member pathways
9.0SLCO1B1, SLCO1B3
9
Show member pathways
9.0SLCO1B1, SLCO1B3
10
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
11
Show member pathways
8.5ABCC2, SLCO1B1, SLCO1B3
128.5ABCC2, SLCO1B1, SLCO1B3
13
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:00163239.8SLCO1B1, 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:00703279.9ABCC2, SLCO1B1
2bile acid and bile salt transportGO:00157219.8SLCO1B1, SLCO1B3
3sodium-independent organic anion transportGO:00432529.8SLCO1B1, SLCO1B3
4organic anion transportGO:00157119.2ABCC2, SLCO1B1, SLCO1B3
5transportGO:00068108.5ABCC2, SLCO1B1, SLCO1B3

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

idNameGO IDScoreTop Affiliating Genes
1bile acid transmembrane transporter activityGO:00151259.4SLCO1B1, SLCO1B3
2organic anion transmembrane transporter activityGO:00085149.3ABCC2, SLCO1B3

Sources for Hyperbilirubinemia, Rotor Type, Digenic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet