ABCB11 gene related symptoms and diseases
All the information presented here about the ABCB11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCB11 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cholestasis | Common - Between 50% and 80% cases |
| Hepatomegaly | Common - Between 50% and 80% cases |
| Jaundice | Common - Between 50% and 80% cases |
| Cholelithiasis | Common - Between 50% and 80% cases |
| Intrahepatic cholestasis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ABCB11 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pruritus
Not very common - Between 30% and 50% cases
- Hepatic failure
- Elevated alkaline phosphatase
- Conjugated hyperbilirubinemia
- Pain
- Splenomegaly
Rarely - Less than 30% cases
- Poor appetite
- Leukocytosis
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to ABCB11 gene
Here you will find a list of rare diseases related to the ABCB11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 2
Alternate names
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 2 Is also known as bric2, bric type 2
More info about BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 2
SOURCES: ORPHANET
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
Alternate names
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 Is also known as pfic2, bsep deficiency
Description
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
Most common symptoms of PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
- Hepatomegaly
- Jaundice
- Hepatosplenomegaly
- Pruritus
- Hepatic failure
More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2
Most common symptoms of CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2
- Short stature
- Neoplasm
- Failure to thrive
- Hepatomegaly
- Diarrhea
More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2
SOURCES: OMIM
INTRAHEPATIC CHOLESTASIS OF PREGNANCY
Alternate names
INTRAHEPATIC CHOLESTASIS OF PREGNANCY Is also known as pregnancy-related cholestasis, gravidic intrahepatic cholestasis, recurrent intrahepatic cholestasis of pregnancy
Description
Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
Most common symptoms of INTRAHEPATIC CHOLESTASIS OF PREGNANCY
- Pain
- Jaundice
- Elevated hepatic transaminase
- Abnormality of the liver
- Pruritus
More info about INTRAHEPATIC CHOLESTASIS OF PREGNANCY
SICKLE CELL ANEMIA
Alternate names
SICKLE CELL ANEMIA Is also known as sickle cell disease
Description
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Most common symptoms of SICKLE CELL ANEMIA
- Intellectual disability
- Pain
- Anemia
- Hypertension
- Hepatomegaly
More info about SICKLE CELL ANEMIA
Search interest in ABCB11
Potential gene panels for ABCB11 gene
ABCB11 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB11 gene.
More info about this panelABCB11 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB11 gene.
More info about this panelABCB11 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB11 gene.
More info about this panelABCB11 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB11 gene.
More info about this panelMitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelABCB11 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 ABCB11 gene.
More info about this panelABCB11 Deletion/duplication analysis 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 ABCB11 gene.
More info about this panelLiver Diseases Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panelJaundice Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Jaundice Deletion/duplication panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1
More info about this panelLiver 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 panelJaundice 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 Jaundice Panel by next-generation sequencing (NGS) that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1
More info about this panelABCB11 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the ABCB11 gene.
More info about this panelATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica ATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS that also includes the following genes: ATP8B1 ABCB11 ABCB4
More info about this panelABCB11. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCB11 gene.
More info about this panelCHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panelCholestasis 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 panelCholestasis 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 panelFamilial Intrahepatic Cholestasis (sequence analysis of ABCB11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ABCB11 gene.
More info about this panelProgressive familial intrahepatic cholestasis (NGS panel for 4 genes) Panel
Portugal.
By CGC Genetics Progressive familial intrahepatic cholestasis (NGS panel for 4 genes) that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelABCB11 Sequencing Panel
Germany.
By Hehr Laboratory Center for Human Genetics - University of Regensburg
This panel specifically test the ABCB11 gene.
More info about this panelCholestasis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4
More info about this panelProgressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1 NOTCH2
More info about this panelIntrahepatic Cholestasis via ABCB11 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCB11 gene.
More info about this panelCholestasis Comprehensive Panel Panel
United States.
By Connective Tissue Gene Tests Cholestasis Comprehensive Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelCholestasis Deletion / Duplication Panel Panel
United States.
By Connective Tissue Gene Tests Cholestasis Deletion / Duplication Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelCholestasis NGS Panel Panel
United States.
By Connective Tissue Gene Tests Cholestasis NGS Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelHepatic 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 panelABCB11- Related Intrahepatic Cholestasis Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ABCB11 gene.
More info about this panelPFIC2 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ABCB11 gene.
More info about this panelIntrahepatic cholestasis panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Intrahepatic cholestasis panel that also includes the following genes: ATP8B1 ABCB11 ABCB4
More info about this panelCholestasis, progressive familial intrahepatic 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCB11 gene.
More info about this panelABCB11 - Cholestasis, progressive familial intrahepatic 2 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the ABCB11 gene.
More info about this panelABCB11 Panel
Israel.
By ProntoLab - MLPA Lab Pronto Diagnostics Ltd.
This panel specifically test the ABCB11 gene.
More info about this panelLow GGT familial intrahepatic cholestasis, ABCB11 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ABCB11 gene.
More info about this panelFamilial intrahepatic cholestasis type 2 (PFIC2-ABCB11) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the ABCB11 gene.
More info about this panelqCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelCholestasis, Intrahepatic: ABCB11 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCB11 gene.
More info about this panelCHOLESTASIS INTRAHEPATIC Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHOLESTASIS INTRAHEPATIC that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelNeonatal 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 panelCholestasis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cholestasis NGS Panel that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB11 ABCB4 JAG1 SERPINA1
More info about this panelABCB11 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCB11 gene.
More info about this panelCholestasis 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 panelBenign recurrent intrahepatic cholestasis type 2 Panel
Spain.
By Bioarray
This panel specifically test the ABCB11 gene.
More info about this panelProgressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 MYO5B NR1H4
More info about this panelABCB11 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 ABCB11 gene.
More info about this panelNext 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 panelCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC Panel
Spain.
By Laboratorio de Genetica Clinica SL CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 NR1H4
More info about this panelCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL that also includes the following genes: SLC25A13 TJP2 ATP8B1 ABCB11 ABCB4 NR1H4
More info about this panelBenign Recurrent Intrahepatic Cholestasis Type 2, Sequencing ABCB11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ABCB11 gene.
More info about this panelFamilial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes Panel
Spain.
By Reference Laboratory Genetics Familial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelTempus 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
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