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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM


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

ABCB4 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCB4 gene.

More info about this panel

ABCB4 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCB4 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PFIC3 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ABCB4 gene.

More info about this panel

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

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

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

Gallbladder disease 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCB4 gene.

More info about this panel

Single gene testing GRN Panel

Germany.

By CeGaT GmbH

This panel specifically test the ABCB4 gene.

More info about this panel

Single gene testing ABCB4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ABCB4 gene.

More info about this panel

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

Cholestasis, intrahepatic, of pregnancy, 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ABCB4 gene.

More info about this panel

Cholestasis, progressive familial intrahepatic 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ABCB4 gene.

More info about this panel

Gallbladder disease 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ABCB4 gene.

More info about this panel

ABCB4 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ABCB4 gene.

More info about this panel

Cholestasis, intrahepatic, of pregnancy, 3 Panel

Slovakia.

By MedGene

This panel specifically test the ABCB4 gene.

More info about this panel

Cholestasis, progressive familial intrahepatic 3 Panel

Slovakia.

By MedGene

This panel specifically test the ABCB4 gene.

More info about this panel

Gallbladder disease 1 Panel

Slovakia.

By MedGene

This panel specifically test the ABCB4 gene.

More info about this panel

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

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

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

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

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

ABCB4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCB4 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

Progressive familial intrahepatic cholestasis type 3 Panel

Spain.

By Bioarray

This panel specifically test the ABCB4 gene.

More info about this panel

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

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

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

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

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

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

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

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

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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