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.
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
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
Search interest in ABCC2
Potential gene panels for ABCC2 gene
ABCC2 Sequencing Panel
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 panelLiver Diseases Panel by next-generation sequencing (NGS) Panel
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 panelABCC2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCC2 gene.
More info about this panelCholestasis Seq + Del/Dup Panel Panel
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 panelCholestasis Del/Dup Panel Panel
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 panelDubin-Johnson Syndrome (sequence analysis of ABCC2 gene) Panel
By CGC Genetics
This panel specifically test the ABCC2 gene.
More info about this panelDubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCC2 gene.
More info about this panelHepatic and pancreatic diseases - panels Panel
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 panelDubin-Johnson syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCC2 gene.
More info about this panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelDubin-Johnson Syndrome Panel
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the ABCC2 gene.
More info about this panelNeonatal and Adult Cholestasis: Sequencing Panel Panel
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 panelAmyotrophic Lateral Sclerosis NGS Panel Panel
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 panelABCC2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCC2 gene.
More info about this panelCholestasis Panel Panel
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 panelDubin-Johnson syndrome Panel
By Bioarray
This panel specifically test the ABCC2 gene.
More info about this panelABCC2 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ABCC2 gene.
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
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 panelDUBIN-JOHNSON SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ABCC2 gene.
More info about this panelDubin-Johnson Syndrome, Sequencing ABCC2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ABCC2 gene.
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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