Rotor Syndrome

Description

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

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.


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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
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
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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