Hyperbilirubinemia, Rotor Type; Hblrr

Table of contents:

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

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).

Genes related to Hyperbilirubinemia, Rotor Type; Hblrr

ABCC2
SLCO1B1
SLCO1B3

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Clinical Features

Top most frequent phenotypes and symptoms related to Hyperbilirubinemia, Rotor Type; Hblrr

Hepatomegaly
Fever
Fatigue
Abnormality of the skeletal system
Abdominal pain
Jaundice
Abnormality of skin pigmentation
Hyperbilirubinemia
Abnormality of coagulation
Conjugated hyperbilirubinemia

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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

Hyperbilirubinemia, Rotor Type; Hblrr Is also known as rotor syndrome.

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.

Hyperbilirubinemia, Rotor Type; Hblrr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ABCC2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ABCC2 Specificity 100 % Genes 34 %
Liver Diseases Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...) View the complete list with 52 more genes Panel complete gene list SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4, GPBAR1, CLDN1, VIPAS39, PEX26, TMEM216, CTRC, TRMU, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EHHADH, EPHX1, FAH, ATP8B1, AKR1D1, ALDOB, ABCB11, ABCB4, AMACR, HSD17B4, ABCC2, JAG1, LIPA, ABCD3, MKS1, MPV17, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, POLG, BAAT, PEX19, PEX2, PEX5 Specificity 2 % Genes 34 %
ABCC2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ABCC2 Specificity 100 % Genes 34 %
Cholestasis Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...) View the complete list with 1 more genes Panel complete gene list SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1, BAAT Specificity 5 % Genes 34 %
Cholestasis Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...) View the complete list with 1 more genes Panel complete gene list SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1, BAAT Specificity 5 % Genes 34 %
Dubin-Johnson Syndrome (sequence analysis of ABCC2 gene). By CGC Genetics (Portugal). ABCC2 Specificity 100 % Genes 34 %
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ABCC2 Specificity 100 % Genes 34 %
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 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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