Rotor Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Rotor Syndrome

SLCO1B3
SLCO1B1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Rotor Syndrome

Fever
Abdominal pain
Jaundice
Conjugated hyperbilirubinemia
Abnormality of the gastric mucosa

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Rotor Syndrome Is also known as hyperbilirubinemia, rotor type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Rotor Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Hemolytic Anemia Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS , (...) View the complete list with 6 more genes Panel complete gene list SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS, ANK1, HK1, PFKL, PFKM, PGK1, PKLR Specificity 8 % Genes 100 %
SLCO1B3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SLCO1B3 Specificity 100 % Genes 50 %
Hyperbilirubinemia, Rotor type (sequence analysis of SLCO1B1 and SLCO1B3 gene). By CGC Genetics (Portugal). SLCO1B1, SLCO1B3 Specificity 100 % Genes 100 %
Hyperbilirubinemia, Rotor type (sequence analysis of SLCO1B3 gene). By CGC Genetics (Portugal). SLCO1B3 Specificity 100 % Genes 50 %
Rotor Syndrome via SLCO1B3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLCO1B3 Specificity 100 % Genes 50 %
Rotor Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLCO1B1, SLCO1B3 Specificity 100 % Genes 100 %
Hepatic and pancreatic diseases - panels. By MGZ Medical Genetics Center (Germany). SLCO1B1, SLCO1B3, SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UROD, UROS, VPS33B, NPC2, INVS, HSD3B7, CFTR, NPHP4, UTP4, CLDN1, VIPAS39, PEX26, CPOX , (...) View the complete list with 49 more genes Panel complete gene list SLCO1B1, SLCO1B3, SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UROD, UROS, VPS33B, NPC2, INVS, HSD3B7, CFTR, NPHP4, UTP4, CLDN1, VIPAS39, PEX26, CPOX, TMEM216, TRMU, CYP27A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EPHX1, FAH, FECH, ATP8B1, AKR1D1, ALAD, ALAS2, GALT, ABCB11, ABCB4, HFE, HMBS, ABCC2, JAG1, LIPA, MKS1, MPV17, ASS1, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, PKHD1, POLG, PPOX, BAAT, PEX2, PEX5 Specificity 3 % Genes 100 %
Hyperbilirubinemia, Rotor type, digenic. By Centogene AG - the Rare Disease Company (Germany). SLCO1B3 Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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