HBLRR
MCID: HYP236
MIFTS: 40

Hyperbilirubinemia, Rotor Type (HBLRR)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperbilirubinemia, Rotor Type

MalaCards integrated aliases for Hyperbilirubinemia, Rotor Type:

Name: Hyperbilirubinemia, Rotor Type 58 54 26 60 76 41
Rotor Syndrome 58 77 25 54 26 60 76 38 30 56 6 74
Hyperbilirubinemia, Rotor Type, Digenic 58 13
Rotor-Type Hyperbilirubinemia 25 54
Hblrr 58 76

Characteristics:

Orphanet epidemiological data:

60
rotor syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Miscellaneous:
onset in infancy or childhood

Inheritance:
digenic recessive


HPO:

33
hyperbilirubinemia, rotor type:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Penetrance for this disorder is complete and is the same for males and females...

Classifications:



External Ids:

OMIM 58 237450
KEGG 38 H02057
MeSH 45 D006932
ICD10 via Orphanet 35 E80.6
UMLS via Orphanet 75 C0220991
Orphanet 60 ORPHA3111
MedGen 43 C0220991
UMLS 74 C0220991

Summaries for Hyperbilirubinemia, Rotor Type

NIH Rare Diseases : 54 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.

MalaCards based summary : Hyperbilirubinemia, Rotor Type, also known as rotor syndrome, is related to dubin-johnson syndrome and bilirubin metabolic disorder, and has symptoms including icterus An important gene associated with Hyperbilirubinemia, Rotor Type is SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1), and among its related pathways/superpathways are Bile secretion and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include skin, eye and liver, and related phenotypes are jaundice and conjugated hyperbilirubinemia

Genetics Home Reference : 26 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 : 58 The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; 237500) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012). (237450)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Rotor syndrome, is a rare, relatively benign autosomal recessivebilirubin disorder. It is a distinct,... more...

GeneReviews: NBK114805

Related Diseases for Hyperbilirubinemia, Rotor Type

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



Diseases related to Hyperbilirubinemia, Rotor Type

Symptoms & Phenotypes for Hyperbilirubinemia, Rotor Type

Human phenotypes related to Hyperbilirubinemia, Rotor Type:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
2 conjugated hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002908
3 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
4 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
5 abnormality of the gastric mucosa 60 33 occasional (7.5%) Occasional (29-5%) HP:0004295
6 abnormality of the skeletal system 33 HP:0000924
7 abnormality of skin pigmentation 33 HP:0001000

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye
increased urinary excretion of coproporphyrin i

Abdomen Liver:
hyperbilirubinemia, conjugated
lack of abnormal hepatic pigmentation

Clinical features from OMIM:

237450

UMLS symptoms related to Hyperbilirubinemia, Rotor Type:


icterus

MGI Mouse Phenotypes related to Hyperbilirubinemia, Rotor Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.8 ABCC2 ALB SLCO1B3

Drugs & Therapeutics for Hyperbilirubinemia, Rotor Type

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

Genetic Tests for Hyperbilirubinemia, Rotor Type

Genetic tests related to Hyperbilirubinemia, Rotor Type:

# Genetic test Affiliating Genes
1 Rotor Syndrome 30 SLCO1B1 SLCO1B3

Anatomical Context for Hyperbilirubinemia, Rotor Type

MalaCards organs/tissues related to Hyperbilirubinemia, Rotor Type:

42
Skin, Eye, Liver, Colon

Publications for Hyperbilirubinemia, Rotor Type

Articles related to Hyperbilirubinemia, Rotor Type:

(show all 16)
# Title Authors Year
1
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. ( 25546334 )
2015
2
Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome. ( 26508179 )
2015
3
Management of a patient with colon cancer and rotor syndrome: A case report. ( 24520296 )
2014
4
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. ( 22232210 )
2012
5
Loss of OATP1B3 function causes Rotor syndrome: implications for potential use of inhibitors in cancer. ( 22954695 )
2012
6
A child with rotor syndrome and Capillaria philippinensis: case report and review of literature. ( 21980780 )
2011
7
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). ( 20955959 )
2010
8
Anesthetic management of a patient with rotor syndrome for cerebral aneurysm clipping. ( 19098629 )
2009
9
Coinheritance of Rotor syndrome, G-6-PD deficiency, and heterozygous beta thalassemia: a possible genetic interaction. ( 11568527 )
2001
10
Clinical quiz. Dubin-Johnson syndrome or Rotor syndrome. ( 10507830 )
1999
11
Cholescintigraphy in the diagnosis of Rotor syndrome. ( 9152529 )
1997
12
Diagnostic approach of Rotor syndrome with cholescintigraphy. ( 9298301 )
1997
13
Cholescintigraphy in the diagnosis of Rotor syndrome. ( 8195868 )
1994
14
Impaired clearance of cholephilic anions in Rotor syndrome. ( 6880319 )
1983
15
[The rotor syndrome]. ( 6676614 )
1983
16
Rotor syndrome, a family study. ( 4456510 )
1974

Variations for Hyperbilirubinemia, Rotor Type

ClinVar genetic disease variations for Hyperbilirubinemia, Rotor Type:

6 (show top 50) (show all 208)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLCO1B1 NM_006446.4(SLCO1B1): c.1738C> T (p.Arg580Ter) single nucleotide variant Uncertain significance rs71581941 GRCh37 Chromosome 12, 21375289: 21375289
2 SLCO1B1 NM_006446.4(SLCO1B1): c.1738C> T (p.Arg580Ter) single nucleotide variant Uncertain significance rs71581941 GRCh38 Chromosome 12, 21222355: 21222355
3 SLCO1B1 NM_006446.4(SLCO1B1): c.757C> T (p.Arg253Ter) single nucleotide variant Pathogenic rs183501729 GRCh37 Chromosome 12, 21349909: 21349909
4 SLCO1B1 NM_006446.4(SLCO1B1): c.757C> T (p.Arg253Ter) single nucleotide variant Pathogenic rs183501729 GRCh38 Chromosome 12, 21196975: 21196975
5 SLCO1B3 SLCO1B3, 7.2-KB DEL deletion Pathogenic
6 SLCO1B3 SLCO1B3, ARG253TER single nucleotide variant Pathogenic
7 SLCO1B1 NM_006446.4(SLCO1B1): c.521T> C (p.Val174Ala) single nucleotide variant drug response rs4149056 GRCh37 Chromosome 12, 21331549: 21331549
8 SLCO1B1 NM_006446.4(SLCO1B1): c.521T> C (p.Val174Ala) single nucleotide variant drug response rs4149056 GRCh38 Chromosome 12, 21178615: 21178615
9 SLCO1B3 NM_019844.3(SLCO1B3): c.413G> T (p.Ser138Ile) single nucleotide variant Uncertain significance rs369529563 GRCh37 Chromosome 12, 21014004: 21014004
10 SLCO1B3 NM_019844.3(SLCO1B3): c.413G> T (p.Ser138Ile) single nucleotide variant Uncertain significance rs369529563 GRCh38 Chromosome 12, 20861070: 20861070
11 SLCO1B3 NM_019844.3(SLCO1B3): c.334T> G (p.Ser112Ala) single nucleotide variant Benign rs4149117 GRCh38 Chromosome 12, 20858546: 20858546
12 SLCO1B3 NM_019844.3(SLCO1B3): c.334T> G (p.Ser112Ala) single nucleotide variant Benign rs4149117 GRCh37 Chromosome 12, 21011480: 21011480
13 SLCO1B3 NM_019844.3(SLCO1B3): c.360-3C> T single nucleotide variant Benign rs3764009 GRCh37 Chromosome 12, 21013948: 21013948
14 SLCO1B3 NM_019844.3(SLCO1B3): c.360-3C> T single nucleotide variant Benign rs3764009 GRCh38 Chromosome 12, 20861014: 20861014
15 SLCO1B3 NM_019844.3(SLCO1B3): c.699G> A (p.Met233Ile) single nucleotide variant Benign rs7311358 GRCh37 Chromosome 12, 21015760: 21015760
16 SLCO1B3 NM_019844.3(SLCO1B3): c.699G> A (p.Met233Ile) single nucleotide variant Benign rs7311358 GRCh38 Chromosome 12, 20862826: 20862826
17 SLCO1B3 NM_019844.3(SLCO1B3): c.1557A> G (p.Ala519=) single nucleotide variant Benign rs2053098 GRCh38 Chromosome 12, 20883477: 20883477
18 SLCO1B3 NM_019844.3(SLCO1B3): c.1557A> G (p.Ala519=) single nucleotide variant Benign rs2053098 GRCh37 Chromosome 12, 21036411: 21036411
19 SLCO1B1 NM_006446.4(SLCO1B1): c.388A> G (p.Asn130Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs2306283 GRCh37 Chromosome 12, 21329738: 21329738
20 SLCO1B1 NM_006446.4(SLCO1B1): c.388A> G (p.Asn130Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs2306283 GRCh38 Chromosome 12, 21176804: 21176804
21 SLCO1B1 NM_006446.4(SLCO1B1): c.571T> C (p.Leu191=) single nucleotide variant Benign rs4149057 GRCh37 Chromosome 12, 21331599: 21331599
22 SLCO1B1 NM_006446.4(SLCO1B1): c.571T> C (p.Leu191=) single nucleotide variant Benign rs4149057 GRCh38 Chromosome 12, 21178665: 21178665
23 SLCO1B1 NM_006446.4(SLCO1B1): c.597C> T (p.Phe199=) single nucleotide variant Benign rs2291075 GRCh38 Chromosome 12, 21178691: 21178691
24 SLCO1B1 NM_006446.4(SLCO1B1): c.597C> T (p.Phe199=) single nucleotide variant Benign rs2291075 GRCh37 Chromosome 12, 21331625: 21331625
25 SLCO1B3 NM_019844.3(SLCO1B3): c.-181+15G> C single nucleotide variant Uncertain significance rs59793824 GRCh37 Chromosome 12, 20963713: 20963713
26 SLCO1B3 NM_019844.3(SLCO1B3): c.-181+15G> C single nucleotide variant Uncertain significance rs59793824 GRCh38 Chromosome 12, 20810779: 20810779
27 SLCO1B3 NM_019844.3(SLCO1B3): c.-180-7T> G single nucleotide variant Likely benign rs76069495 GRCh37 Chromosome 12, 20966451: 20966451
28 SLCO1B3 NM_019844.3(SLCO1B3): c.-180-7T> G single nucleotide variant Likely benign rs76069495 GRCh38 Chromosome 12, 20813517: 20813517
29 SLCO1B3 NM_019844.3(SLCO1B3): c.-128delC deletion Likely benign rs373018826 GRCh37 Chromosome 12, 20966510: 20966510
30 SLCO1B3 NM_019844.3(SLCO1B3): c.-128delC deletion Likely benign rs373018826 GRCh38 Chromosome 12, 20813576: 20813576
31 SLCO1B3 NM_019844.3(SLCO1B3): c.-90C> T single nucleotide variant Benign rs7305323 GRCh37 Chromosome 12, 20966548: 20966548
32 SLCO1B3 NM_019844.3(SLCO1B3): c.-90C> T single nucleotide variant Benign rs7305323 GRCh38 Chromosome 12, 20813614: 20813614
33 SLCO1B3 NM_019844.3(SLCO1B3): c.767G> C (p.Gly256Ala) single nucleotide variant Benign/Likely benign rs60140950 GRCh38 Chromosome 12, 20875274: 20875274
34 SLCO1B3 NM_019844.3(SLCO1B3): c.767G> C (p.Gly256Ala) single nucleotide variant Benign/Likely benign rs60140950 GRCh37 Chromosome 12, 21028208: 21028208
35 SLCO1B3 NM_019844.3(SLCO1B3): c.853_856delAAAC (p.Lys285Hisfs) deletion Uncertain significance rs554933268 GRCh38 Chromosome 12, 20875360: 20875363
36 SLCO1B3 NM_019844.3(SLCO1B3): c.853_856delAAAC (p.Lys285Hisfs) deletion Uncertain significance rs554933268 GRCh37 Chromosome 12, 21028294: 21028297
37 SLCO1B3 NM_019844.3(SLCO1B3): c.1135+8A> G single nucleotide variant Uncertain significance rs372493449 GRCh38 Chromosome 12, 20877944: 20877944
38 SLCO1B3 NM_019844.3(SLCO1B3): c.1135+8A> G single nucleotide variant Uncertain significance rs372493449 GRCh37 Chromosome 12, 21030878: 21030878
39 SLCO1B3 NM_019844.3(SLCO1B3): c.1241C> T (p.Thr414Ile) single nucleotide variant Uncertain significance rs146940490 GRCh38 Chromosome 12, 20879541: 20879541
40 SLCO1B3 NM_019844.3(SLCO1B3): c.1241C> T (p.Thr414Ile) single nucleotide variant Uncertain significance rs146940490 GRCh37 Chromosome 12, 21032475: 21032475
41 SLCO1B3 NM_019844.3(SLCO1B3): c.1347A> G (p.Ala449=) single nucleotide variant Uncertain significance rs79382866 GRCh38 Chromosome 12, 20880870: 20880870
42 SLCO1B3 NM_019844.3(SLCO1B3): c.1347A> G (p.Ala449=) single nucleotide variant Uncertain significance rs79382866 GRCh37 Chromosome 12, 21033804: 21033804
43 SLCO1B3 NM_019844.3(SLCO1B3): c.1366C> T (p.Leu456Phe) single nucleotide variant Uncertain significance rs61736817 GRCh38 Chromosome 12, 20880889: 20880889
44 SLCO1B3 NM_019844.3(SLCO1B3): c.1366C> T (p.Leu456Phe) single nucleotide variant Uncertain significance rs61736817 GRCh37 Chromosome 12, 21033823: 21033823
45 SLCO1B3 NM_019844.3(SLCO1B3): c.1593A> G (p.Thr531=) single nucleotide variant Uncertain significance rs142694767 GRCh38 Chromosome 12, 20883513: 20883513
46 SLCO1B3 NM_019844.3(SLCO1B3): c.1593A> G (p.Thr531=) single nucleotide variant Uncertain significance rs142694767 GRCh37 Chromosome 12, 21036447: 21036447
47 SLCO1B3 NM_019844.3(SLCO1B3): c.*399A> G single nucleotide variant Uncertain significance rs886049141 GRCh37 Chromosome 12, 21069580: 21069580
48 SLCO1B3 NM_019844.3(SLCO1B3): c.*399A> G single nucleotide variant Uncertain significance rs886049141 GRCh38 Chromosome 12, 20916646: 20916646
49 SLCO1B3 NM_019844.3(SLCO1B3): c.*548A> T single nucleotide variant Likely benign rs117703648 GRCh37 Chromosome 12, 21069729: 21069729
50 SLCO1B3 NM_019844.3(SLCO1B3): c.*548A> T single nucleotide variant Likely benign rs117703648 GRCh38 Chromosome 12, 20916795: 20916795

Expression for Hyperbilirubinemia, Rotor Type

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

Pathways for Hyperbilirubinemia, Rotor Type

Pathways related to Hyperbilirubinemia, Rotor Type according to KEGG:

38
# Name Kegg Source Accession
1 Bile secretion hsa04976

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 ABCC2 ALB SLCO1B1 SLCO1B3
2
Show member pathways
11.74 ALB SLCO1B1 SLCO1B3
3
Show member pathways
11.55 ABCC2 SLCO1B1
4
Show member pathways
11.49 ABCC2 SLCO1B1 SLCO1B3
6 10.99 ABCC2 SLCO1B1 SLCO1B3
7 10.63 ABCC2 SLCO1B1
8 10.48 ABCC2 SLCO1B3
9
Show member pathways
10.1 ABCC2 SLCO1B1 SLCO1B3

GO Terms for Hyperbilirubinemia, Rotor Type

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

# 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 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 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 organic anion transport GO:0015711 8.96 SLCO1B1 SLCO1B3
5 thyroid hormone transport GO:0070327 8.32 ABCC2

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

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.16 SLCO1B1 SLCO1B3
2 bile acid transmembrane transporter activity GO:0015125 8.96 SLCO1B1 SLCO1B3
3 organic anion transmembrane transporter activity GO:0008514 8.62 ABCC2 SLCO1B3

Sources for Hyperbilirubinemia, Rotor Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....