ABCC2 gene related symptoms and diseases

All the information presented here about the ABCC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCC2 gene

Symptoms // Phenotype % Cases
Abnormality of coagulation Very Common - Between 80% and 100% cases
Abnormal urinary color Very Common - Between 80% and 100% cases
Fever Very Common - Between 80% and 100% cases
Fatigue Very Common - Between 80% and 100% cases
Abdominal pain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ABCC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Jaundice
  • Hyperbilirubinemia
  • Hepatomegaly
  • Conjugated hyperbilirubinemia
  • Biliary tract abnormality
  • Abnormality of the gastric mucosa
  • Not very common - Between 30% and 50% cases

  • Abnormality of the skeletal system
  • Pain

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCC2 gene

Here you will find a list of rare diseases related to the ABCC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DUBIN-JOHNSON SYNDROME


Alternate names

DUBIN-JOHNSON SYNDROME Is also known as hyperbilirubinemia ii, hblrdj, hyperbilirubinemia, dubin-johnson type, hyperbilirubinemia type 2, dubin-sprinz disease, sprinz-nelson syndrome

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.

Most common symptoms of DUBIN-JOHNSON SYNDROME

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Abdominal pain


More info about DUBIN-JOHNSON SYNDROME

SOURCES: OMIM 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 ABCC2 gene

ABCC2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ABCC2 gene.

More info about this panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

ABCC2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCC2 gene.

More info about this panel

Cholestasis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Cholestasis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Dubin-Johnson Syndrome (sequence analysis of ABCC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC2 gene.

More info about this panel

Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCC2 gene.

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

Dubin-Johnson syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCC2 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

Dubin-Johnson Syndrome Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ABCC2 gene.

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN

More info about this panel

ABCC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCC2 gene.

More info about this panel

Cholestasis Panel Panel

Finland.

By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2

More info about this panel

Dubin-Johnson syndrome Panel

Spain.

By Bioarray

This panel specifically test the ABCC2 gene.

More info about this panel

ABCC2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ABCC2 gene.

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

DUBIN-JOHNSON  SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ABCC2 gene.

More info about this panel

Dubin-Johnson Syndrome, Sequencing ABCC2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCC2 gene.

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


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