SLCO1B1 gene related symptoms and diseases

All the information presented here about the SLCO1B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLCO1B1 gene

Symptoms // Phenotype % Cases
Fever Very Common - Between 80% and 100% cases
Abdominal pain Very Common - Between 80% and 100% cases
Jaundice Very Common - Between 80% and 100% cases
Conjugated hyperbilirubinemia Very Common - Between 80% and 100% cases
Abnormality of the gastric mucosa Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLCO1B1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hepatomegaly
  • Fatigue
  • Abnormality of the skeletal system
  • Abnormality of skin pigmentation
  • Hyperbilirubinemia
  • Abnormality of coagulation
  • Biliary tract abnormality
  • Abnormal urinary color
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Rare diseases associated to SLCO1B1 gene

Here you will find a list of rare diseases related to the SLCO1B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ROTOR SYNDROME


Alternate names

ROTOR SYNDROME Is also known as hyperbilirubinemia, rotor type

Description

Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.

Most common symptoms of ROTOR SYNDROME

  • Fever
  • Abdominal pain
  • Jaundice
  • Conjugated hyperbilirubinemia
  • Abnormality of the gastric mucosa


More info about ROTOR SYNDROME

SOURCES: ORPHANET

HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR


Alternate names

HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR Is also known as rotor syndrome

Description

The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS ) 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).

Most common symptoms of HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR

  • Hepatomegaly
  • Fever
  • Fatigue
  • Abnormality of the skeletal system
  • Abdominal pain


More info about HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR

SOURCES: OMIM


Potential gene panels for SLCO1B1 gene

Hereditary Hemolytic Anemia Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA

More info about this panel

Statin-induced myopathy Panel

Brazil.

By GENE Núcleo de Genética Médica de Minas Gerais

This panel specifically test the SLCO1B1 gene.

More info about this panel

FHNext Panel

United States.

By Ambry Genetics FHNext that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 LDLR

More info about this panel

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9

More info about this panel

SLCO1B1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SLCO1B1 gene.

More info about this panel

Hyperbilirubinemia, Rotor type (sequence analysis of SLCO1B1 and SLCO1B3 gene) Panel

Portugal.

By CGC Genetics Hyperbilirubinemia, Rotor type (sequence analysis of SLCO1B1 and SLCO1B3 gene) that also includes the following genes: SLCO1B1 SLCO1B3

More info about this panel

Hyperbilirubinemia, Rotor type (sequence analysis of SLCO1B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLCO1B1 gene.

More info about this panel

Rotor Syndrome via SLCO1B1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SLCO1B1 gene.

More info about this panel

Rotor Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Rotor Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SLCO1B1 SLCO1B3

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

Statin induced myopathy Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the SLCO1B1 gene.

More info about this panel

Hyperbilirubinemia, Rotor type, digenic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLCO1B1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Pharmacogenetic panel Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19

More info about this panel

Statin-Induced Myopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the SLCO1B1 gene.

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Familialhypercholesterolemia Basic Panel Panel

Spain.

By Health in Code Familialhypercholesterolemia Basic Panel that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 APOE LDLR

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Familialhypercholesterolemia Extended Panel Panel

Spain.

By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2

More info about this panel

SLCO1B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLCO1B1 gene.

More info about this panel

YouScript Cardio Panel

United States.

By Genelex YouScript Cardio that also includes the following genes: SLCO1B1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 F2 F5 MTHFR

More info about this panel

SLCO1B1 Panel

United States.

By Genelex

This panel specifically test the SLCO1B1 gene.

More info about this panel

Genetic study of Simvastatin pharmacogenetics Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA

This panel specifically test the SLCO1B1 gene.

More info about this panel

Hyperbilirubinemia, Rotor type, digenic Panel

Spain.

By Bioarray

This panel specifically test the SLCO1B1 gene.

More info about this panel

Comprehensive Pharmacogenomics (PGX) Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Pharmacogenomics (PGX) Panel that also includes the following genes: SLCO1B1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 F5 HTR2A MTHFR

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

Medication Response Genetic Test Panel

United States.

By Color Medication Response Genetic Test that also includes the following genes: SLCO1B1 TPMT IFNL3 NUDT15 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5

More info about this panel

OneOme RightMed comprehensive test Panel

United States.

By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19

More info about this panel

Rxight Pharmacogenetics Program Panel

United States.

By MD Labs MD Labs Rxight Pharmacogenetics Program that also includes the following genes: SLCO1B1 TPMT UGT2B15 ANKK1 VKORC1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2D6

More info about this panel

SLCO1B1 genotyping Panel

United States.

By Alpha Genomix Laboratories

This panel specifically test the SLCO1B1 gene.

More info about this panel

Rotor Syndrome, Sequencing SLCO1B1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLCO1B1 gene.

More info about this panel

PharmacoScan Panel

United States.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC PharmacoScan that also includes the following genes: SLCO1B1 TPMT UGT1A1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 DPYD

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Rotor Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Rotor Syndrome: gene sequencing panel that also includes the following genes: SLCO1B1 SLCO1B3

More info about this panel


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