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: HGNC,NCBIGENE,ORPHANET,OMIM.

Top 5 symptoms associated to ABCB11 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Cholestasis Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Hepatomegaly Very Common - Between 80% and 100% cases
Intrahepatic cholestasis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with ABCB11 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Conjugated hyperbilirubinemia

Not very common - Between 30% and 50% cases

Cholelithiasis

Commonly - More than 50% cases

Elevated alkaline phosphatase

Not very common - Between 30% and 50% cases

Pruritus

Commonly - More than 50% cases

Jaundice

Not very common - Between 30% and 50% cases

Abnormality of the vasculature Iron deficiency anemia Myeloid leukemia

And 72 more phenotypes.

Mendelian

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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.


CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2

Alternate names

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2 Is also known as ;bsep deficiency; pfic2

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 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2

  • Autosomal recessive inheritance
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2

SOURCES: OMIM ORPHANET

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

Most common symptoms of CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

  • Autosomal recessive inheritance
  • Short stature
  • Failure to thrive
  • Neoplasm
  • Hepatomegaly


More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

SOURCES: GARD MONDO OMIM

SICKLE CELL ANEMIA

Alternate names

SICKLE CELL ANEMIA Is also known as ;sickle cell disease

Description

Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant ({141900.0243}), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010).See review of infection in sickle cell disease by Booth et al. (2010).Piel et al. (2017) reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease.

Most common symptoms of SICKLE CELL ANEMIA

  • Autosomal recessive inheritance
  • Intellectual disability
  • Pica
  • Anemia
  • Hepatomegaly


More info about SICKLE CELL ANEMIA

SOURCES: OMIM MESH MONDO ICD10 NCIT SCTID ORPHANET

Potential gene panels for ABCB11 gene

ABCB11 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB11 gene.

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ABCB11 Sequence Analysis (Prenatal Diagnosis) Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB11 gene.

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MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

ABCB11 Sequencing Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

This panel specifically test the ABCB11 gene.

More info about this panel

ABCB11 Deletion/duplication analysis Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

This panel specifically test the ABCB11 gene.

More info about this panel

Cholestasis Deletion/duplication panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. Cholestasis Deletion/duplication panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 SERPINA1 TJP2 BAAT

More info about this panel

Jaundice Deletion/duplication panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. Jaundice Deletion/duplication panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 TJP2

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Cholestasis 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 in United States. Cholestasis Panel by next-generation sequencing (NGS) that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 SERPINA1 CYP7B1 TJP2 AKR1D1 VPS33B

More info about this panel

Jaundice 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 in United States. Jaundice Panel by next-generation sequencing (NGS) that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 TJP2

More info about this panel

ABCB11 mutation analysis Panel

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

This panel specifically test the ABCB11 gene.

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ATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS that also includes the following genes: ABCB11 ABCB4 ATP8B1

More info about this panel

ABCB11. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the ABCB11 gene.

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CHOP Comprehensive Hereditary Cancer Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: BRCA1 BRCA2 HFE APC EPCAM MSH2 PMS2 MSH6 MLH1 MUTYH

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Cholestasis Seq + Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Cholestasis Seq + Del/Dup Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 CFTR LIPA NPC1 NPC2 SERPINA1

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Cholestasis Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Cholestasis Del/Dup Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 CFTR LIPA NPC1 NPC2 SERPINA1

More info about this panel

Familial Intrahepatic Cholestasis (sequence analysis of ABCB11 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCB11 gene.

More info about this panel

Progressive familial intrahepatic cholestasis (NGS panel for 4 genes) Panel

By CGC Genetics in Portugal. Progressive familial intrahepatic cholestasis (NGS panel for 4 genes) that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2

More info about this panel

ABCB11 Sequencing Panel

By Hehr Laboratory Center for Human Genetics - University of Regensburg in Germany.

This panel specifically test the ABCB11 gene.

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Cholestasis Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 SERPINA1 TJP2 AKR1D1 VPS33B VIPAS39

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Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 TJP2 NOTCH2

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Intrahepatic Cholestasis via ABCB11 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ABCB11 gene.

More info about this panel

Cholestasis Comprehensive Panel Panel

By Connective Tissue Gene Tests in United States. Cholestasis Comprehensive Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2

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Cholestasis Deletion / Duplication Panel Panel

By Connective Tissue Gene Tests in United States. Cholestasis Deletion / Duplication Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2

More info about this panel

Cholestasis NGS Panel Panel

By Connective Tissue Gene Tests in United States. Cholestasis NGS Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2

More info about this panel

Hepatic and pancreatic diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Hepatic and pancreatic diseases - panels that also includes the following genes: HFE ABCB11 ABCB4 ATP7B ATP8B1 INVS HNF1B TRMU CC2D2A JAG1

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ABCB11- Related Intrahepatic Cholestasis Panel

By Bioscientia GmbH Center for Human Genetics in Germany.

This panel specifically test the ABCB11 gene.

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PFIC2 Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

This panel specifically test the ABCB11 gene.

More info about this panel

Intrahepatic cholestasis panel Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. Intrahepatic cholestasis panel that also includes the following genes: ABCB11 ABCB4 ATP8B1

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Cholestasis, progressive familial intrahepatic 2 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCB11 gene.

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ABCB11 - Cholestasis, progressive familial intrahepatic 2 Panel

By GGA - Galil Genetic Analysis in Israel.

This panel specifically test the ABCB11 gene.

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ABCB11 Panel

By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel.

This panel specifically test the ABCB11 gene.

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Low GGT familial intrahepatic cholestasis, ABCB11 sequencing Panel

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

This panel specifically test the ABCB11 gene.

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Familial intrahepatic cholestasis type 2 (PFIC2-ABCB11) Panel

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

This panel specifically test the ABCB11 gene.

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qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL in Spain. qCarrier Plus that also includes the following genes: F2 F5 FMR1 MTHFR MCCC1 MCCC2 ABCB11 ACADM ACADS AGL

More info about this panel

Cholestasis, Intrahepatic: ABCB11 gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

This panel specifically test the ABCB11 gene.

More info about this panel

CHOLESTASIS INTRAHEPATIC Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CHOLESTASIS INTRAHEPATIC that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 INVS HNF1B TRMU CC2D2A JAG1 NPHP3 NPHP1

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Cholestasis NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Cholestasis NGS Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 SERPINA1 AKR1D1

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ABCB11 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCB11 gene.

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Cholestasis Panel Panel

By Blueprint Genetics in Finland. Cholestasis Panel that also includes the following genes: EPCAM ABCB11 ABCB4 ATP8B1 TRMU JAG1 NPHP3 NPHP1 NPHP4 SLC25A13

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Benign recurrent intrahepatic cholestasis type 2 Panel

By Bioarray in Spain.

This panel specifically test the ABCB11 gene.

More info about this panel

CarrierMap Panel

By Recombine in United States. CarrierMap that also includes the following genes: FMR1 MTHFR MCCC1 MCCC2 ABCB11 ACADM ACADS AGL ACADVL ACAT1

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Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2 NR1H4 MYO5B

More info about this panel

ABCB11 Gene Sequencing and Deletion/Duplication Analysis Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

This panel specifically test the ABCB11 gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: HFE ABCB11 ABCB4 ATP7B ATP8B1 BCS1L TWNK INVS HBB HNF1B

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CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC Panel

By Laboratorio de Genetica Clinica SL in Spain. CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC that also includes the following genes: ABCB11 ABCB4 ATP8B1

More info about this panel

Benign Recurrent Intrahepatic Cholestasis Type 2, Sequencing ABCB11 Gene Panel

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain. Familial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes that also includes the following genes: ABCB11 ABCB4 ATP8B1 TJP2

More info about this panel

Tempus xO assay Panel

By Tempus Labs, Inc. in United States. Tempus xO assay that also includes the following genes: BRCA1 BRCA2 VHL APC EPCAM MSH2 PMS2 MSH6 MLH1 MUTYH

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