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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH ORPHANET


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 panel

ABCB11 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ABCB11 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

ABCB11 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 panel

ABCB11 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 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

ABCB11 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 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

ABCB11. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCB11 gene.

More info about this panel

CHOP 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 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 ABCB11 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCB11 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

ABCB11 Sequencing Panel

Germany.

By Hehr Laboratory Center for Human Genetics - University of Regensburg

This panel specifically test the ABCB11 gene.

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 ABCB11 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCB11 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

ABCB11- Related Intrahepatic Cholestasis Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ABCB11 gene.

More info about this panel

PFIC2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ABCB11 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, progressive familial intrahepatic 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 - Cholestasis, progressive familial intrahepatic 2 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 Panel

Israel.

By ProntoLab - MLPA Lab Pronto Diagnostics Ltd.

This panel specifically test the ABCB11 gene.

More info about this panel

Low 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 panel

Familial 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 panel

qCarrier 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 panel

Cholestasis, 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 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

ABCB11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCB11 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

Benign recurrent intrahepatic cholestasis type 2 Panel

Spain.

By Bioarray

This panel specifically test the ABCB11 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

ABCB11 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 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

Benign 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 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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