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

Aliases & Descriptions for Hyperbilirubinemia, Rotor Type, Digenic:

Name: Hyperbilirubinemia, Rotor Type, Digenic 54 13
Rotor Syndrome 23 50 24 25 56 66 29 52 69
Hyperbilirubinemia, Rotor Type 54 50 25 56 66
Rotor-Type Hyperbilirubinemia 23 50
Rotor Type Hyperbilirubinemia 24
Hblrr 66

Characteristics:

Orphanet epidemiological data:

56
rotor syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

GeneReviews:

23
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:

OMIM 54 237450
Orphanet 56 ORPHA3111
UMLS via Orphanet 70 C0220991
ICD10 via Orphanet 34 E80.6
MedGen 40 C0220991
MeSH 42 D006932

Summaries for Hyperbilirubinemia, Rotor Type, Digenic

NIH Rare Diseases : 50 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 fever, abdominal pain and jaundice. An important gene associated with Hyperbilirubinemia, Rotor Type, Digenic is SLCO1B3 (Solute Carrier Organic Anion Transporter Family Member 1B3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Synthesis of bile acids and bile salts. 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 : 54 The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is... (237450) more...

UniProtKB/Swiss-Prot : 66 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: NBK114805

Related Diseases for Hyperbilirubinemia, Rotor Type, Digenic

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 gilbert syndrome 11.5
2 crigler-najjar syndrome, type ii 10.8
3 eclampsia 9.8 ABCC2 SLCO1B1
4 mitochondrial dna depletion syndrome 7 9.8 ABCC2 SLCO1B1
5 dubin-johnson syndrome 9.7
6 thalassemia 9.7
7 cerebritis 9.7
8 aneurysm 9.7
9 cerebral aneurysms 9.7
10 pyelitis 9.7 ABCC2 SLCO1B1
11 atrial fibrillation, familial, 12 9.6 ABCC2 SLCO1B1 SLCO1B3
12 chronic rheumatic pericarditis 9.6 ABCC2 SLCO1B1 SLCO1B3

Graphical network of the top 20 diseases related to Hyperbilirubinemia, Rotor Type, Digenic:



Diseases related to Hyperbilirubinemia, Rotor Type, Digenic

Symptoms & Phenotypes for Hyperbilirubinemia, Rotor Type, Digenic

Symptoms by clinical synopsis from OMIM:

237450

Clinical features from OMIM:

237450

Human phenotypes related to Hyperbilirubinemia, Rotor Type, Digenic:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Occasional (29-5%) HP:0001945
2 abdominal pain 56 32 Occasional (29-5%) HP:0002027
3 jaundice 56 32 Very frequent (99-80%) HP:0000952
4 abnormality of the gastric mucosa 56 32 Occasional (29-5%) HP:0004295
5 conjugated hyperbilirubinemia 56 32 Very frequent (99-80%) HP:0002908
6 abnormality of the skeletal system 32 HP:0000924
7 abnormality of skin pigmentation 32 HP:0001000

UMLS symptoms related to Hyperbilirubinemia, Rotor Type, Digenic:


icterus

Drugs & Therapeutics for Hyperbilirubinemia, Rotor Type, Digenic

Search Clinical Trials , NIH Clinical Center for Hyperbilirubinemia, Rotor Type, Digenic

Genetic Tests for Hyperbilirubinemia, Rotor Type, Digenic

Genetic tests related to Hyperbilirubinemia, Rotor Type, Digenic:

id Genetic test Affiliating Genes
1 Rotor Syndrome 29 24 SLCO1B3

Anatomical Context for Hyperbilirubinemia, Rotor Type, Digenic

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

39
Skin, Eye, Liver

Publications for Hyperbilirubinemia, Rotor Type, Digenic

Variations for Hyperbilirubinemia, Rotor Type, Digenic

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLCO1B1 NM_006446.4(SLCO1B1): c.1738C> T (p.Arg580Ter) single nucleotide variant Pathogenic rs71581941 GRCh37 Chromosome 12, 21375289: 21375289
2 SLCO1B1 SLCO1B1, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
3 SLCO1B1 NM_006446.4(SLCO1B1): c.757C> T (p.Arg253Ter) single nucleotide variant Pathogenic rs183501729 GRCh37 Chromosome 12, 21349909: 21349909
4 SLCO1B3 SLCO1B3, 7.2-KB DEL deletion Pathogenic
5 SLCO1B3 SLCO1B3, ARG253TER single nucleotide variant Pathogenic
6 SLCO1B1 NM_006446.4(SLCO1B1): c.521T> C (p.Val174Ala) single nucleotide variant drug response rs4149056 GRCh37 Chromosome 12, 21331549: 21331549

Expression for Hyperbilirubinemia, Rotor Type, Digenic

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

Pathways for Hyperbilirubinemia, Rotor Type, Digenic

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 ABCC2 SLCO1B1 SLCO1B3
2
Show member pathways
11.75 SLCO1B1 SLCO1B3
3
Show member pathways
11.73 ABCC2 SLCO1B1
4
Show member pathways
11.57 ABCC2 SLCO1B1
6
Show member pathways
11.28 SLCO1B1 SLCO1B3
7
Show member pathways
11.27 ABCC2 SLCO1B1 SLCO1B3
8
Show member pathways
11.14 ABCC2 SLCO1B1
9 10.98 ABCC2 SLCO1B1 SLCO1B3
10
Show member pathways
10.75 ABCC2 SLCO1B1
11 10.55 ABCC2 SLCO1B1
12 10.37 ABCC2 SLCO1B3
13
Show member pathways
10.1 ABCC2 SLCO1B1 SLCO1B3

GO Terms for Hyperbilirubinemia, Rotor Type, Digenic

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.13 ABCC2 SLCO1B1 SLCO1B3
2 basolateral plasma membrane GO:0016323 8.62 SLCO1B1 SLCO1B3

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.5 ABCC2 SLCO1B1 SLCO1B3
2 bile acid and bile salt transport GO:0015721 9.26 SLCO1B1 SLCO1B3
3 sodium-independent organic anion transport GO:0043252 9.16 SLCO1B1 SLCO1B3
4 thyroid hormone transport GO:0070327 8.96 ABCC2 SLCO1B1
5 organic anion transport GO:0015711 8.8 ABCC2 SLCO1B1 SLCO1B3

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

id Name GO ID Score Top Affiliating Genes
1 organic anion transmembrane transporter activity GO:0008514 8.96 ABCC2 SLCO1B3
2 bile acid transmembrane transporter activity GO:0015125 8.62 SLCO1B1 SLCO1B3

Sources for Hyperbilirubinemia, Rotor Type, Digenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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