Gallbladder Disease 1; Gbd1

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Gallbladder Disease 1; Gbd1

  • Pain
  • Elevated hepatic transaminase
  • Jaundice
  • Carcinoma
  • Cirrhosis
  • Cholestasis
  • Hepatic fibrosis
  • Hypercholesterolemia
  • Pancreatitis
  • Elevated alkaline phosphatase
And another 4 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Gallbladder Disease 1; Gbd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCB4
Specificity
100 %
Genes
100 %
ABCB4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCB4
Specificity
100 %
Genes
100 %
ABCB4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCB4
Specificity
100 %
Genes
100 %
ABCB4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ABCB4
Specificity
100 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Cholestasis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABCB4, ATP8B1, JAG1, SLC25A13, AKR1D1
Specificity
20 %
Genes
100 %
ABCB4 Sequencing.

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

ABCB4
Specificity
100 %
Genes
100 %
ABCB4 Deletion/duplication analysis.

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

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis Deletion/duplication panel.

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

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, TJP2, BAAT
Specificity
13 %
Genes
100 %
Jaundice Deletion/duplication panel.

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

ABCB11, ABCB4, ATP8B1, JAG1, TJP2
Specificity
20 %
Genes
100 %
Cholestasis Panel by next-generation sequencing (NGS).

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

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, CYP7B1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7
Specificity
6 %
Genes
100 %
Jaundice Panel by next-generation sequencing (NGS).

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

ABCB11, ABCB4, ATP8B1, JAG1, TJP2
Specificity
20 %
Genes
100 %
ABCB4 mutation analysis.

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

ABCB4
Specificity
100 %
Genes
100 %
ATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS.

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

ABCB11, ABCB4, ATP8B1
Specificity
34 %
Genes
100 %
ABCB4. Complete sequencing.

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

ABCB4
Specificity
100 %
Genes
100 %
ABCB4. MLPA testing.

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

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Familial Intrahepatic Cholestasis (sequence analysis of ABCB4 gene).

By CGC Genetics in Portugal.

ABCB4
Specificity
100 %
Genes
100 %
Familial intrahepatic cholestasis (deletions/duplications on ABCB4 gene).

By CGC Genetics in Portugal.

ABCB4
Specificity
100 %
Genes
100 %
Progressive familial intrahepatic cholestasis (NGS panel for 4 genes).

By CGC Genetics in Portugal.

ABCB11, ABCB4, ATP8B1, TJP2
Specificity
25 %
Genes
100 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, CLDN1, NOTCH2, HSD3B7, NR1H4
Specificity
7 %
Genes
100 %
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, TJP2, NOTCH2
Specificity
17 %
Genes
100 %
Intrahepatic Cholestasis via the ABCB4 Gene.

By PreventionGenetics PreventionGenetics in United States.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

ABCB11, ABCB4, ATP8B1, TJP2
Specificity
25 %
Genes
100 %
Cholestasis Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

ABCB11, ABCB4, ATP8B1, TJP2
Specificity
25 %
Genes
100 %
Cholestasis NGS Panel.

By Connective Tissue Gene Tests in United States.

ABCB11, ABCB4, ATP8B1, TJP2
Specificity
25 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Progressive Familial Intrahepatic Cholestasis 3.

By Bioscientia GmbH Center for Human Genetics in Germany.

ABCB4
Specificity
100 %
Genes
100 %
PFIC3.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ABCB4
Specificity
100 %
Genes
100 %
Intrahepatic cholestasis panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ABCB11, ABCB4, ATP8B1
Specificity
34 %
Genes
100 %
Cholestasis familial intrahepatic of pregnancy.

By Centogene AG - the Rare Disease Company in Germany.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis progressive familial intrahepatic 3.

By Centogene AG - the Rare Disease Company in Germany.

ABCB4
Specificity
100 %
Genes
100 %
Gallbladder disease 1.

By Centogene AG - the Rare Disease Company in Germany.

ABCB4
Specificity
100 %
Genes
100 %
Single gene testing GRN.

By CeGaT GmbH in Germany.

ABCB4
Specificity
100 %
Genes
100 %
Single gene testing ABCB4.

By CeGaT GmbH in Germany.

ABCB4
Specificity
100 %
Genes
100 %
Familial intrahepatic cholestasis type 3 (PFIC3-ABCB4).

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

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis, intrahepatic, of pregnancy, 3.

By Praxis fuer Humangenetik Wien in Austria.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis, progressive familial intrahepatic 3.

By Praxis fuer Humangenetik Wien in Austria.

ABCB4
Specificity
100 %
Genes
100 %
Gallbladder disease 1.

By Praxis fuer Humangenetik Wien in Austria.

ABCB4
Specificity
100 %
Genes
100 %
ABCB4.

By Division Human Genetics Medical University Innsbruck in Austria.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis, intrahepatic, of pregnancy, 3.

By MedGene in Slovakia.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis, progressive familial intrahepatic 3.

By MedGene in Slovakia.

ABCB4
Specificity
100 %
Genes
100 %
Gallbladder disease 1.

By MedGene in Slovakia.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis Progressive Familial Intrahepatic: ABCB4 gene deletion-duplication analysis(MLPA).

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

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis Progressive Familial type 3 (PFIC), Intrahepatic: ABCB4 gene sequence analysis.

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

ABCB4
Specificity
100 %
Genes
100 %
CHOLESTASIS INTRAHEPATIC.

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

ABCB11, ABCB4, ATP8B1, TJP2
Specificity
25 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Cholestasis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, AKR1D1
Specificity
15 %
Genes
100 %
ABCB4.

By Fulgent Genetics Fulgent Genetics in United States.

ABCB4
Specificity
100 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Progressive familial intrahepatic cholestasis type 3.

By Bioarray in Spain.

ABCB4
Specificity
100 %
Genes
100 %
Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel.

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

ABCB11, ABCB4, ATP8B1, TJP2, NR1H4, MYO5B
Specificity
17 %
Genes
100 %
ABCB4 Gene Sequencing and Deletion/Duplication Analysis.

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

ABCB4
Specificity
100 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC.

By Laboratorio de Genetica Clinica SL in Spain.

ABCB11, ABCB4, ATP8B1
Specificity
34 %
Genes
100 %
Progressive Familial Intrahepatic Cholestasis Type 3, Sequencing ABCB4 Gene.

By Reference Laboratory Genetics in Spain.

ABCB4
Specificity
100 %
Genes
100 %
Progressive Familial Intrahepatic Cholestasis Type 3 , Deletions-Duplications (MLPA) ABCB4 Gene.

By Reference Laboratory Genetics in Spain.

ABCB4
Specificity
100 %
Genes
100 %
Familial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes.

By Reference Laboratory Genetics in Spain.

ABCB11, ABCB4, ATP8B1, TJP2
Specificity
25 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

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.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B PYCNODYSOSTOSIS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more