ABCB4 gene related symptoms and diseases
All the information presented here about the ABCB4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCB4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Jaundice | Very Common - Between 80% and 100% cases |
| Cholestasis | Very Common - Between 80% and 100% cases |
| Elevated hepatic transaminase | Very Common - Between 80% and 100% cases |
| Intrahepatic cholestasis | Very Common - Between 80% and 100% cases |
| Cirrhosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ABCB4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cholelithiasis
- Cholesterol gallstones
- Pain
- Pruritus
- Cholangitis
Not very common - Between 30% and 50% cases
- Increased serum bile acid concentration during pregnancy
- Abnormal liver function tests during pregnancy
- Obesity
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCB4 gene
Here you will find a list of rare diseases related to the ABCB4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3
Alternate names
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 Is also known as cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase, mdr3 deficiency, pfic3
Description
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Most common symptoms of PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3
- Failure to thrive
- Hypertension
- Hepatomegaly
- Fever
- Diarrhea
More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3
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
LOW PHOSPHOLIPID ASSOCIATED CHOLELITHIASIS
Alternate names
LOW PHOSPHOLIPID ASSOCIATED CHOLELITHIASIS Is also known as abcb4 gene mutation-associated cholelithiasis, cholelithiasis with abcb4 gene mutation, cholelithiasis, low phospholipid-associated, lpac
Description
Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.
Most common symptoms of LOW PHOSPHOLIPID ASSOCIATED CHOLELITHIASIS
- Pain
- Obesity
- Jaundice
- Elevated hepatic transaminase
- Carcinoma
More info about LOW PHOSPHOLIPID ASSOCIATED CHOLELITHIASIS
Search interest in ABCB4
Potential gene panels for ABCB4 gene
ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB4 gene.
More info about this panel United States.
ABCB4 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB4 gene.
More info about this panel United States.
ABCB4 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB4 gene.
More info about this panel United States.
ABCB4 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ABCB4 gene.
More info about this panel United States.
MitoMet®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 panel United States.
Cholestasis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cholestasis that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB4 JAG1
More info about this panel United States.
ABCB4 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 ABCB4 gene.
More info about this panel United States.
ABCB4 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 ABCB4 gene.
More info about this panel United States.
Liver 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 panel United States.
Jaundice 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 panel United States.
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 United States.
Jaundice 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 panel United States.
ABCB4 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the ABCB4 gene.
More info about this panel Netherlands.
ATP8B1, 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 panel Spain.
ABCB4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
ABCB4. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
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 United States.
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 United States.
Familial Intrahepatic Cholestasis (sequence analysis of ABCB4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ABCB4 gene.
More info about this panel Portugal.
Familial intrahepatic cholestasis (deletions/duplications on ABCB4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ABCB4 gene.
More info about this panel Portugal.
Progressive 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 panel Portugal.
Cholestasis 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 panel United States.
Progressive 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 panel United States.
Intrahepatic Cholestasis via ABCB4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCB4 gene.
More info about this panel United States.
Cholestasis 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 panel United States.
Cholestasis 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 panel United States.
Cholestasis 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 panel United States.
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 Germany.
Progressive Familial Intrahepatic Cholestasis 3 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ABCB4 gene.
More info about this panel Germany.
PFIC3 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ABCB4 gene.
More info about this panel Netherlands.
Intrahepatic 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 panel Netherlands.
Cholestasis familial intrahepatic of pregnancy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCB4 gene.
More info about this panel Germany.
Cholestasis progressive familial intrahepatic 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCB4 gene.
More info about this panel Germany.
Gallbladder disease 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCB4 gene.
More info about this panel Germany.
Single gene testing GRN Panel
Germany.
By CeGaT GmbH
This panel specifically test the ABCB4 gene.
More info about this panel Germany.
Single gene testing ABCB4 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ABCB4 gene.
More info about this panel Germany.
Familial intrahepatic cholestasis type 3 (PFIC3-ABCB4) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the ABCB4 gene.
More info about this panel Belgium.
Cholestasis, intrahepatic, of pregnancy, 3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ABCB4 gene.
More info about this panel Austria.
Cholestasis, progressive familial intrahepatic 3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ABCB4 gene.
More info about this panel Austria.
Gallbladder disease 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ABCB4 gene.
More info about this panel Austria.
ABCB4 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ABCB4 gene.
More info about this panel Austria.
Cholestasis, intrahepatic, of pregnancy, 3 Panel
Slovakia.
By MedGene
This panel specifically test the ABCB4 gene.
More info about this panel Slovakia.
Cholestasis, progressive familial intrahepatic 3 Panel
Slovakia.
By MedGene
This panel specifically test the ABCB4 gene.
More info about this panel Slovakia.
Gallbladder disease 1 Panel
Slovakia.
By MedGene
This panel specifically test the ABCB4 gene.
More info about this panel Slovakia.
Cholestasis Progressive Familial Intrahepatic: ABCB4 gene deletion-duplication analysis(MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
Cholestasis Progressive Familial type 3 (PFIC), Intrahepatic: ABCB4 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
CHOLESTASIS 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 panel Spain.
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 United States.
Cholestasis 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 panel United States.
ABCB4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCB4 gene.
More info about this panel United States.
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 Finland.
Progressive familial intrahepatic cholestasis type 3 Panel
Spain.
By Bioarray
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
Progressive 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 panel United States.
ABCB4 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 ABCB4 gene.
More info about this panel United States.
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 Taiwan.
CHOLESTASIS, 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 panel Spain.
CHOLESTASIS, 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 panel Spain.
Progressive Familial Intrahepatic Cholestasis Type 3, Sequencing ABCB4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
Progressive Familial Intrahepatic Cholestasis Type 3 , Deletions-Duplications (MLPA) ABCB4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ABCB4 gene.
More info about this panel Spain.
Familial 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 panel Spain.
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 United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NAA15 PRKRA KANK2 BTLA