HBLRR
MCID: HYP236
MIFTS: 44

Hyperbilirubinemia, Rotor Type (HBLRR)

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

Aliases & Classifications for Hyperbilirubinemia, Rotor Type

MalaCards integrated aliases for Hyperbilirubinemia, Rotor Type:

Name: Hyperbilirubinemia, Rotor Type 57 20 43 58 72 39
Rotor Syndrome 57 73 25 20 43 58 72 36 29 54 6 70
Hyperbilirubinemia, Rotor Type, Digenic 57 13
Rotor-Type Hyperbilirubinemia 25 20
Hblrr 57 72

Characteristics:

Orphanet epidemiological data:

58
rotor syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in infancy or childhood

Inheritance:
digenic recessive


HPO:

31
hyperbilirubinemia, rotor type:
Inheritance digenic inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 237450
OMIM Phenotypic Series 57 PS237450
KEGG 36 H02057
MeSH 44 D006932
ICD10 via Orphanet 33 E80.6
UMLS via Orphanet 71 C0220991
Orphanet 58 ORPHA3111
MedGen 41 C0220991
SNOMED-CT via HPO 68 18165001 44574006 9326001
UMLS 70 C0220991

Summaries for Hyperbilirubinemia, Rotor Type

MedlinePlus Genetics : 43 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.There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.

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 liver and colon, and related phenotypes are abnormal enzyme/coenzyme activity and conjugated hyperbilirubinemia

GARD : 20 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.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted to cause complete deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3.

UniProtKB/Swiss-Prot : 72 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 : 73 Rotor syndrome (also known as Rotor type hyperbilirubinemia) is a rare cause of mixed direct... more...

GeneReviews: NBK114805

Related Diseases for Hyperbilirubinemia, Rotor Type

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 dubin-johnson syndrome 31.0 SLCO1B3 SLCO1B1 ABCC2
2 bilirubin metabolic disorder 30.8 SLCO1B3 SLCO1B1 ALB ABCC2
3 gilbert syndrome 30.0 SLCO1B3-SLCO1B7 SLCO1B3 SLCO1B1 ALB ABCC2
4 cholestasis 29.6 SLCO1B1 ALB ABCC2
5 crigler-najjar syndrome, type i 28.9 SLCO1B3 SLCO1B1 ALB ABCC2
6 crigler-najjar syndrome, type ii 11.0
7 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.1
8 pigmentation disease 10.0 SLCO1B1 ALB
9 glucosephosphate dehydrogenase deficiency 10.0 SLCO1B1 ALB
10 obstructive jaundice 9.9 ALB ABCC2
11 coproporphyria, hereditary 9.9
12 wilson disease 9.9
13 beta-thalassemia 9.9
14 autosomal recessive disease 9.9
15 non-alcoholic fatty liver disease 9.9
16 siderosis 9.9
17 porphyria 9.9
18 cutaneous porphyria 9.9
19 colon adenocarcinoma 9.9
20 hemolytic anemia 9.9
21 thalassemia 9.9
22 aneurysm 9.9
23 cerebral aneurysms 9.9
24 cholestasis, progressive familial intrahepatic, 3 9.9 SLCO1B3 ABCC2
25 cholangitis, primary sclerosing 9.9 ALB ABCC2
26 hepatocellular adenoma 9.9 SLCO1B3 SLCO1B1
27 bile duct disease 9.8 ALB ABCC2
28 cholestasis, progressive familial intrahepatic, 1 9.8 SLCO1B3 ABCC2
29 muscular disease 9.8 SLCO1B1 ALB
30 biliary tract disease 9.7 SLCO1B1 ALB ABCC2
31 primary biliary cholangitis 9.7 SLCO1B1 ALB ABCC2
32 bile duct cancer 9.7 ALB ABCC2
33 familial intrahepatic cholestasis 9.6 SLCO1B3 SLCO1B1 ABCC2
34 cholestasis, progressive familial intrahepatic, 2 9.6 SLCO1B3 SLCO1B1 ABCC2
35 progressive familial intrahepatic cholestasis 9.6 SLCO1B3 SLCO1B1 ABCC2
36 intrahepatic cholestasis of pregnancy 9.6 SLCO1B3 SLCO1B1 ABCC2
37 cholestasis, benign recurrent intrahepatic, 1 9.6 SLCO1B3 SLCO1B1 ABCC2
38 leber plus disease 9.6 SLCO1B1 ALB ABCC2

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
2 conjugated hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002908
3 porphyrinuria 58 31 frequent (33%) Frequent (79-30%) HP:0010473
4 bilirubinuria 58 31 frequent (33%) Frequent (79-30%) HP:0031811
5 intermittent jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001046
6 conjunctival icterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0032106
7 jaundice 58 31 Very frequent (99-80%) HP:0000952
8 abnormality of the skeletal system 31 HP:0000924
9 abnormality of skin pigmentation 31 HP:0001000
10 hyperbilirubinemia 58 Frequent (79-30%)
11 pruritus 58 Excluded (0%)
12 storage in hepatocytes 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Hyperbilirubinemia, Rotor Type:


icterus

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 29 SLCO1B1 SLCO1B3

Anatomical Context for Hyperbilirubinemia, Rotor Type

MalaCards organs/tissues related to Hyperbilirubinemia, Rotor Type:

40
Liver, Colon

Publications for Hyperbilirubinemia, Rotor Type

Articles related to Hyperbilirubinemia, Rotor Type:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. 57 25 6 61
22232210 2012
2
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. 61 6 25
25546334 2015
3
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
4
Genetic variations and frequencies of major haplotypes in SLCO1B1 encoding the transporter OATP1B1 in Japanese subjects: SLCO1B1*17 is more prevalent than *15. 6
18159134 2007
5
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. 25 61
17403188 2007
6
Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes. 57
850521 1977
7
Rotor's syndrome. A distinct inheritable pathophysiologic entity. 57
766621 1976
8
Chronic familial hyperbilirubinemia. Hepatic defect(s) associated with occult hemolysis. 57
6024890 1967
9
Familial nonhemolytic jaundice with conjugated bilirubin in the serum; a case study. 57
13666961 1959
10
Clinical importance of OATP1B1 and OATP1B3 in drug-drug interactions. 25
21297316 2011
11
Organic anion transporting polypeptide 1B1: a genetically polymorphic transporter of major importance for hepatic drug uptake. 25
21245207 2011
12
The diagnostic value of hepatobiliary scintigraphy in Rotor syndrome in a 3-year-old boy: is it enough? 61
33722924 2021
13
Elucidation of OATP1B1 and 1B3 transporter function using transgenic rodent models and commonly known single nucleotide polymorphisms. 61
32407928 2020
14
Characterization of organic anion transporting polypeptide 1b2 knockout rats generated by CRISPR/Cas9: a novel model for drug transport and hyperbilirubinemia disease. 61
32528832 2020
15
The first Turkish family with Rotor syndrome diagnosed at the molecular level. 61
33414662 2020
16
Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype. 61
32082363 2019
17
Mutation responsible for congenital photosensitivity and hyperbilirubinemia in Southdown sheep. 61
29688779 2018
18
Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion. 61
26448335 2017
19
Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci. 61
27539103 2016
20
ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes. 61
26926206 2016
21
Inherited disorders of bilirubin clearance. 61
26595536 2016
22
Organic anion transporting polypeptide (OATP)-mediated transport of coproporphyrins I and III. 61
26383540 2016
23
Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome. 61
26508179 2015
24
Gene replacement therapy for genetic hepatocellular jaundice. 61
25315738 2015
25
Down-regulation of OATP1B proteins correlates with hyperbilirubinemia in advanced cholestasis. 61
26191226 2015
26
Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences. 61
24704527 2014
27
Management of a patient with colon cancer and rotor syndrome: A case report. 61
24520296 2014
28
New insights in bilirubin metabolism and their clinical implications. 61
24151358 2013
29
[Neonatal hyperbilirubinemia and molecular mechanisms of jaundice]. 61
23909260 2013
30
Hereditary conjugated hyperbilirubinaemia: 37 years later. 61
22982575 2013
31
Loss of OATP1B3 function causes Rotor syndrome: implications for potential use of inhibitors in cancer. 61
22954695 2012
32
Rotor Syndrome 61
23236639 2012
33
A child with rotor syndrome and Capillaria philippinensis: case report and review of literature. 61
21980780 2011
34
Dubin-Johnson syndrome presenting after acute viral hepatitis. 61
24834177 2011
35
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). 61
20955959 2010
36
Anesthetic management of a patient with rotor syndrome for cerebral aneurysm clipping. 61
19098629 2009
37
[A case with Rotor syndrome in hyperbilirubinemic family]. 61
17464171 2007
38
[Inherited disorders of bilirubin metabolism]. 61
15985997 2005
39
Congenital nonhemolytic hyperbilirubinemias. 61
16146029 2004
40
[Report of a case with Rotor syndrome]. 61
14754532 2003
41
Coinheritance of Rotor syndrome, G-6-PD deficiency, and heterozygous beta thalassemia: a possible genetic interaction. 61
11568527 2001
42
Clinical quiz. Dubin-Johnson syndrome or Rotor syndrome. 61
10507830 1999
43
The hereditary hyperbilirubinaemias. 61
9890077 1998
44
[Rotor syndrome]. 61
9645058 1998
45
Diagnostic approach of Rotor syndrome with cholescintigraphy. 61
9298301 1997
46
Cholescintigraphy in the diagnosis of Rotor syndrome. 61
9152529 1997
47
Cholescintigraphy in the diagnosis of Rotor syndrome. 61
8195868 1994
48
Pediatric liver disease in the eastern province of Saudi Arabia: A clinicopathological study. 61
17589093 1993
49
[Diagnostic porphyrinopathies in hereditary hyperbilirubinemia]. 54
7483689 1993
50
[Rotor syndrome: relevance of the determination of coproporphyrin isomers in the urine in comparison with intrahepatic (alcohol-induced) cholestasis]. 61
3218284 1988

Variations for Hyperbilirubinemia, Rotor Type

ClinVar genetic disease variations for Hyperbilirubinemia, Rotor Type:

6 (show top 50) (show all 211)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLCO1B1 NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) SNV Pathogenic 30437 rs71581941 GRCh37: 12:21375289-21375289
GRCh38: 12:21222355-21222355
2 SLCO1B1 NM_006446.5(SLCO1B1):c.757C>T (p.Arg253Ter) SNV Pathogenic 30439 rs183501729 GRCh37: 12:21349909-21349909
GRCh38: 12:21196975-21196975
3 SLCO1B3 SLCO1B3, 7.2-KB DEL Deletion Pathogenic 30487 GRCh37:
GRCh38:
4 SLCO1B3 R253* SNV Pathogenic 30488 GRCh37:
GRCh38:
5 overlap with 3 genes GRCh37/hg19 12p12.2-12.1(chr12:21017576-21404166) copy number loss Pathogenic 915961 GRCh37: 12:21017576-21404166
GRCh38:
6 SLCO1B3 NC_000012.11:g.21014093_21014094insLINE1 Insertion Pathogenic 977762 GRCh37:
GRCh38:
7 SLCO1B1 NM_006446.5(SLCO1B1):c.553G>T (p.Glu185Ter) SNV Pathogenic 998210 GRCh37: 12:21331581-21331581
GRCh38: 12:21178647-21178647
8 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1848T>A (p.Tyr616Ter) SNV Pathogenic 1028635 GRCh37: 12:21054384-21054384
GRCh38: 12:20901450-20901450
9 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1135+1G>A SNV Pathogenic 1032827 GRCh37: 12:21030871-21030871
GRCh38: 12:20877937-20877937
10 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs) Duplication Pathogenic 1032828 GRCh37: 12:21036488-21036489
GRCh38: 12:20883554-20883555
11 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1827_1830del (p.Gln610fs) Deletion Pathogenic 1033510 GRCh37: 12:21054363-21054366
GRCh38: 12:20901429-20901432
12 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.72C>A (p.Cys24Ter) SNV Pathogenic 1033511 GRCh37: 12:20968744-20968744
GRCh38: 12:20815810-20815810
13 SLCO1B1 NM_006446.5(SLCO1B1):c.1135+1G>A SNV Pathogenic 1034277 GRCh37: 12:21353607-21353607
GRCh38: 12:21200673-21200673
14 SLCO1B1 NM_006446.5(SLCO1B1):c.1865+1G>A SNV Pathogenic 1034279 GRCh37: 12:21377774-21377774
GRCh38: 12:21224840-21224840
15 SLCO1B1 NM_006446.5(SLCO1B1):c.1A>T (p.Met1Leu) SNV Pathogenic 1034280 GRCh37: 12:21294509-21294509
GRCh38: 12:21141575-21141575
16 SLCO1B1 NM_006446.5(SLCO1B1):c.1925_1929del (p.Ile642fs) Microsatellite Conflicting interpretations of pathogenicity 994248 GRCh37: 12:21391965-21391969
GRCh38: 12:21239031-21239035
17 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) SNV Conflicting interpretations of pathogenicity 883729 GRCh37: 12:21014025-21014025
GRCh38: 12:20861091-20861091
18 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) SNV Conflicting interpretations of pathogenicity 307886 rs145334570 GRCh37: 12:21011481-21011481
GRCh38: 12:20858547-20858547
19 SLCO1B1 NM_006446.5(SLCO1B1):c.481+1G>T SNV Conflicting interpretations of pathogenicity 307938 rs77271279 GRCh37: 12:21329832-21329832
GRCh38: 12:21176898-21176898
20 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.853_856del (p.Lys285fs) Deletion Conflicting interpretations of pathogenicity 307897 rs554933268 GRCh37: 12:21028294-21028297
GRCh38: 12:20875360-20875363
21 SLCO1B1 NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) SNV Conflicting interpretations of pathogenicity 811089 rs79135870 GRCh37: 12:21331891-21331891
GRCh38: 12:21178957-21178957
22 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) SNV Conflicting interpretations of pathogenicity 722875 rs12299012 GRCh37: 12:21036533-21036533
GRCh38: 12:20883599-20883599
23 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1741A>G (p.Thr581Ala) SNV Uncertain significance 881887 GRCh37: 12:21051428-21051428
GRCh38: 12:20898494-20898494
24 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1747+3A>G SNV Uncertain significance 881888 GRCh37: 12:21051437-21051437
GRCh38: 12:20898503-20898503
25 SLCO1B1 NM_006446.5(SLCO1B1):c.-62+10A>G SNV Uncertain significance 881964 GRCh37: 12:21284180-21284180
GRCh38: 12:21131246-21131246
26 SLCO1B1 NM_006446.5(SLCO1B1):c.-3A>C SNV Uncertain significance 881965 GRCh37: 12:21294506-21294506
GRCh38: 12:21141572-21141572
27 SLCO1B1 NM_006446.5(SLCO1B1):c.124A>C (p.Thr42Pro) SNV Uncertain significance 881966 GRCh37: 12:21325623-21325623
GRCh38: 12:21172689-21172689
28 SLCO1B1 NM_006446.5(SLCO1B1):c.169C>T (p.Arg57Trp) SNV Uncertain significance 881967 GRCh37: 12:21325668-21325668
GRCh38: 12:21172734-21172734
29 SLCO1B1 NM_006446.5(SLCO1B1):c.170G>A (p.Arg57Gln) SNV Uncertain significance 881968 GRCh37: 12:21325669-21325669
GRCh38: 12:21172735-21172735
30 SLCO1B1 NM_006446.5(SLCO1B1):c.1032G>C (p.Leu344Phe) SNV Uncertain significance 882040 GRCh37: 12:21353503-21353503
GRCh38: 12:21200569-21200569
31 SLCO1B1 NM_006446.5(SLCO1B1):c.1034C>T (p.Thr345Met) SNV Uncertain significance 882041 GRCh37: 12:21353505-21353505
GRCh38: 12:21200571-21200571
32 SLCO1B1 NM_006446.5(SLCO1B1):c.1309G>A (p.Gly437Arg) SNV Uncertain significance 882042 GRCh37: 12:21355598-21355598
GRCh38: 12:21202664-21202664
33 SLCO1B1 NM_006446.5(SLCO1B1):c.*126T>C SNV Uncertain significance 882107 GRCh37: 12:21392249-21392249
GRCh38: 12:21239315-21239315
34 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) SNV Uncertain significance 881392 GRCh37: 12:21014050-21014050
GRCh38: 12:20861116-20861116
35 SLCO1B1 NM_006446.5(SLCO1B1):c.*145T>C SNV Uncertain significance 882109 GRCh37: 12:21392268-21392268
GRCh38: 12:21239334-21239334
36 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.26A>C (p.Lys9Thr) SNV Uncertain significance 882934 GRCh37: 12:20968698-20968698
GRCh38: 12:20815764-20815764
37 SLCO1B1 NM_006446.5(SLCO1B1):c.695A>C (p.Lys232Thr) SNV Uncertain significance 880626 GRCh37: 12:21331922-21331922
GRCh38: 12:21178988-21178988
38 SLCO1B1 NM_006446.5(SLCO1B1):c.758G>A (p.Arg253Gln) SNV Uncertain significance 880627 GRCh37: 12:21349910-21349910
GRCh38: 12:21196976-21196976
39 SLCO1B1 NM_006446.5(SLCO1B1):c.786C>T (p.Phe262=) SNV Uncertain significance 880628 GRCh37: 12:21349938-21349938
GRCh38: 12:21197004-21197004
40 SLCO1B1 NM_006446.5(SLCO1B1):c.797G>T (p.Gly266Val) SNV Uncertain significance 880629 GRCh37: 12:21349949-21349949
GRCh38: 12:21197015-21197015
41 SLCO1B1 NM_006446.5(SLCO1B1):c.1865C>T (p.Ser622Leu) SNV Uncertain significance 880702 GRCh37: 12:21377773-21377773
GRCh38: 12:21224839-21224839
42 SLCO1B1 NM_006446.5(SLCO1B1):c.2032C>T (p.His678Tyr) SNV Uncertain significance 880703 GRCh37: 12:21392079-21392079
GRCh38: 12:21239145-21239145
43 SLCO1B1 NM_006446.5(SLCO1B1):c.2040C>A (p.Val680=) SNV Uncertain significance 880704 GRCh37: 12:21392087-21392087
GRCh38: 12:21239153-21239153
44 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) SNV Uncertain significance 881393 GRCh37: 12:21015405-21015405
GRCh38: 12:20862471-20862471
45 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) SNV Uncertain significance 881394 GRCh37: 12:21015421-21015421
GRCh38: 12:20862487-20862487
46 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.1332-15A>G SNV Uncertain significance 881452 GRCh37: 12:21033774-21033774
GRCh38: 12:20880840-20880840
47 SLCO1B3 NM_019844.4(SLCO1B3):c.-147A>T SNV Uncertain significance 881786 GRCh37: 12:20966491-20966491
GRCh38: 12:20813557-20813557
48 SLCO1B3 NM_019844.4(SLCO1B3):c.-145G>C SNV Uncertain significance 881787 GRCh37: 12:20966493-20966493
GRCh38: 12:20813559-20813559
49 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.645A>G (p.Ile215Met) SNV Uncertain significance 881835 GRCh37: 12:21015706-21015706
GRCh38: 12:20862772-20862772
50 SLCO1B3-SLCO1B7 , SLCO1B3 NM_019844.4(SLCO1B3):c.712G>A (p.Gly238Arg) SNV Uncertain significance 881836 GRCh37: 12:21015773-21015773
GRCh38: 12:20862839-20862839

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:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 SLCO1B3 SLCO1B1 ALB ABCC2
2
Show member pathways
11.79 SLCO1B3 SLCO1B1 ALB
3
Show member pathways
11.69 SLCO1B1 ABCC2
4
Show member pathways
11.62 SLCO1B1 ABCC2
5
Show member pathways
11.55 SLCO1B3 SLCO1B1 ABCC2
6 11.39 SLCO1B3 SLCO1B1 ABCC2
7
Show member pathways
11.28 SLCO1B1 ABCC2
9
Show member pathways
11.21 SLCO1B3 ABCC2
10 11.04 SLCO1B3 SLCO1B1
11
Show member pathways
10.96 SLCO1B3 SLCO1B1
12
Show member pathways
10.9 SLCO1B3 SLCO1B1 ABCC2
13 10.63 SLCO1B1 ABCC2
14
Show member pathways
10.1 SLCO1B3 SLCO1B1 ABCC2

GO Terms for Hyperbilirubinemia, Rotor Type

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 SLCO1B3-SLCO1B7 SLCO1B3 SLCO1B1
2 transmembrane transport GO:0055085 9.46 SLCO1B3-SLCO1B7 SLCO1B3 SLCO1B1 ABCC2
3 sodium-independent organic anion transport GO:0043252 9.26 SLCO1B3 SLCO1B1
4 bile acid and bile salt transport GO:0015721 9.13 SLCO1B3 SLCO1B1 ABCC2
5 organic anion transport GO:0015711 8.8 SLCO1B3 SLCO1B1 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 9.26 SLCO1B3 SLCO1B1
2 organic anion transmembrane transporter activity GO:0008514 9.16 SLCO1B3 ABCC2
3 bile acid transmembrane transporter activity GO:0015125 8.96 SLCO1B3 SLCO1B1
4 transmembrane transporter activity GO:0022857 8.92 SLCO1B3-SLCO1B7 SLCO1B3 SLCO1B1 ABCC2

Sources for Hyperbilirubinemia, Rotor Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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