Dubin-johnson Syndrome

Table of contents:

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

Description

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.

Genes related to Dubin-johnson Syndrome

ABCC2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Dubin-johnson Syndrome

Pain
Hepatomegaly
Fever
Fatigue
Abdominal pain
Jaundice
Abnormality of the liver
Hyperbilirubinemia
Abnormality of coagulation
Conjugated hyperbilirubinemia

And another 5 symptoms. If you need more information about this disease we can help you.

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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

Dubin-johnson Syndrome Is also known as hyperbilirubinemia ii, hblrdj, hyperbilirubinemia, dubin-johnson type, hyperbilirubinemia type 2, dubin-sprinz disease, sprinz-nelson 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.

Dubin-johnson Syndrome 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 100 %
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 100 %
ABCC2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ABCC2 Specificity 100 % Genes 100 %
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 100 %
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 100 %
Dubin-Johnson Syndrome (sequence analysis of ABCC2 gene). By CGC Genetics (Portugal). ABCC2 Specificity 100 % Genes 100 %
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ABCC2 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 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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