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: NCBIGENE,ORPHANET,HGNC,OMIM.

Top 5 symptoms associated to ABCB4 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance 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
Jaundice Very Common - Between 80% and 100% cases
Cirrhosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with ABCB4 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Autosomal dominant inheritance

Not very common - Between 30% and 50% cases

Cholesterol gallstones

Commonly - More than 50% cases

Cholangitis

Not very common - Between 30% and 50% cases

Intrahepatic cholestasis

Commonly - More than 50% cases

Pruritus

Not very common - Between 30% and 50% cases

Cholelithiasis

Commonly - More than 50% cases

Pain

Not very common - Between 30% and 50% cases

Hepatosplenomegaly

And 21 more phenotypes.

Mendelian

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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.


CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3

Description

Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012).Mutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by Ziol et al., 2008).For a discussion of genetic heterogeneity of ICP, see ICP1 (OMIM ).

Most common symptoms of CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Pain
  • Elevated hepatic transaminase
  • Jaundice


More info about CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3

SOURCES: MONDO EFO UMLS OMIM

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3

Alternate names

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3 Is also known as mdr3 deficiency, cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase;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 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3

  • Autosomal recessive inheritance
  • Hepatomegaly
  • Infantile onset
  • Splenomegaly
  • Fever


More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3

SOURCES: MESH OMIM UMLS GARD MONDO ORPHANET

GALLBLADDER DISEASE 1; GBD1

Alternate names

GALLBLADDER DISEASE 1; GBD1 Is also known as cholelithiasis, low phospholipid-associated;lpac;abcb4 gene mutation-associated cholelithiasis; cholelithiasis with abcb4 gene mutation; lpac

Description

In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes (OMIM ), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome (OMIM ) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer et al., 2005).Low phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by Pasmant et al., 2012).Mutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3 ), intrahepatic cholestasis of pregnancy-3 (ICP3 ), andoral contraceptive-induced cholestasis (OCIC; see {614972}). Genetic Heterogeneity of Gallbladder DiseaseTwo major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, {609918}; GBD3, {609919}). In addition, variations in the ABCG8 gene (OMIM ) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4 ).

Most common symptoms of GALLBLADDER DISEASE 1; GBD1

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Pain
  • Elevated hepatic transaminase
  • Jaundice


More info about GALLBLADDER DISEASE 1; GBD1

SOURCES: ORPHANET UMLS MONDO OMIM SCTID

Potential gene panels for ABCB4 gene

ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB4 gene.

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ABCB4 Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB4 gene.

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ABCB4 Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB4 gene.

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ABCB4 Sequence Analysis (Prenatal Diagnosis) Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the ABCB4 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

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Cholestasis Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Cholestasis that also includes the following genes: ABCB4 ATP8B1 JAG1 SLC25A13 AKR1D1

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ABCB4 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 ABCB4 gene.

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ABCB4 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 ABCB4 gene.

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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

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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

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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

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ABCB4 mutation analysis Panel

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

This panel specifically test the ABCB4 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

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ABCB4. Complete sequencing Panel

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

This panel specifically test the ABCB4 gene.

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ABCB4. MLPA testing Panel

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

This panel specifically test the ABCB4 gene.

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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

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Familial Intrahepatic Cholestasis (sequence analysis of ABCB4 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCB4 gene.

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Familial intrahepatic cholestasis (deletions/duplications on ABCB4 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCB4 gene.

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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

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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 the ABCB4 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ABCB4 gene.

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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

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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

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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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Progressive Familial Intrahepatic Cholestasis 3 Panel

By Bioscientia GmbH Center for Human Genetics in Germany.

This panel specifically test the ABCB4 gene.

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PFIC3 Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

This panel specifically test the ABCB4 gene.

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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 familial intrahepatic of pregnancy Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCB4 gene.

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Cholestasis progressive familial intrahepatic 3 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCB4 gene.

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Gallbladder disease 1 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCB4 gene.

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Single gene testing GRN Panel

By CeGaT GmbH in Germany.

This panel specifically test the ABCB4 gene.

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Single gene testing ABCB4 Panel

By CeGaT GmbH in Germany.

This panel specifically test the ABCB4 gene.

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Familial intrahepatic cholestasis type 3 (PFIC3-ABCB4) Panel

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

This panel specifically test the ABCB4 gene.

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Cholestasis, intrahepatic, of pregnancy, 3 Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the ABCB4 gene.

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Cholestasis, progressive familial intrahepatic 3 Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the ABCB4 gene.

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Gallbladder disease 1 Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the ABCB4 gene.

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ABCB4 Panel

By Division Human Genetics Medical University Innsbruck in Austria.

This panel specifically test the ABCB4 gene.

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Cholestasis, intrahepatic, of pregnancy, 3 Panel

By MedGene in Slovakia.

This panel specifically test the ABCB4 gene.

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Cholestasis, progressive familial intrahepatic 3 Panel

By MedGene in Slovakia.

This panel specifically test the ABCB4 gene.

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Gallbladder disease 1 Panel

By MedGene in Slovakia.

This panel specifically test the ABCB4 gene.

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Cholestasis Progressive Familial Intrahepatic: ABCB4 gene deletion-duplication analysis(MLPA) Panel

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

This panel specifically test the ABCB4 gene.

More info about this panel

Cholestasis Progressive Familial type 3 (PFIC), Intrahepatic: ABCB4 gene sequence analysis Panel

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

This panel specifically test the ABCB4 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

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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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ABCB4 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCB4 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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Progressive familial intrahepatic cholestasis type 3 Panel

By Bioarray in Spain.

This panel specifically test the ABCB4 gene.

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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

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ABCB4 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 ABCB4 gene.

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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

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Progressive Familial Intrahepatic Cholestasis Type 3, Sequencing ABCB4 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCB4 gene.

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Progressive Familial Intrahepatic Cholestasis Type 3 , Deletions-Duplications (MLPA) ABCB4 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCB4 gene.

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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

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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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