ATP8B1 gene related symptoms and diseases
All the information presented here about the ATP8B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP8B1 gene
Symptoms // Phenotype | % Cases |
---|---|
Jaundice | Common - Between 50% and 80% cases |
Intrahepatic cholestasis | Common - Between 50% and 80% cases |
Abnormality of the liver | Common - Between 50% and 80% cases |
Pruritus | Common - Between 50% and 80% cases |
Cholestasis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ATP8B1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Short stature
- Increased serum bile acid concentration during pregnancy
- Fetal distress
- Premature birth
- Elevated hepatic transaminase
- Hearing impairment
- Intrahepatic cholestasis with episodic jaundice
- Increased serum bile acid concentration
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP8B1 gene
Here you will find a list of rare diseases related to the ATP8B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 1
Alternate names
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 1 Is also known as bric1, bric type 1
More info about BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 1
SOURCES: ORPHANET
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1
Alternate names
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1 Is also known as byler disease, fic1 deficiency, pfic1
Description
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1
SOURCES: ORPHANET
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
Alternate names
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome
Description
Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.'
Most common symptoms of CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
- Short stature
- Hearing impairment
- Neoplasm
- Failure to thrive
- Cognitive impairment
More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
Alternate names
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease
Description
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004).
Most common symptoms of CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
- Short stature
- Hearing impairment
- Growth delay
- Failure to thrive
- Sensorineural hearing impairment
More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
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
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
Alternate names
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 Is also known as cholestasis, pregnancy-related, 1
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. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012).
Most common symptoms of CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
- Jaundice
- Elevated hepatic transaminase
- Abnormality of the liver
- Pruritus
- Premature birth
More info about CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
SOURCES: OMIM
Search interest in ATP8B1
Potential gene panels for ATP8B1 gene
ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP8B1 gene.
More info about this panelMitoMet®Plus aCGH Analysis Panel
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 panelCholestasis Panel
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 panelATP8B1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ATP8B1 gene.
More info about this panelLiver Diseases Deletion/duplication panel Panel
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 panelJaundice Deletion/duplication panel Panel
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 panelLiver Diseases 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 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 panelJaundice 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 Jaundice Panel by next-generation sequencing (NGS) that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1
More info about this panelATP8B1 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS Panel
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 panelATP8B1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP8B1 gene.
More info about this panelCholestasis Seq + Del/Dup Panel Panel
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 panelCholestasis Del/Dup Panel Panel
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 panelFamilial Intrahepatic Cholestasis (sequence analysis of ATP8B1 gene) Panel
By CGC Genetics
This panel specifically test the ATP8B1 gene.
More info about this panelProgressive familial intrahepatic cholestasis (NGS panel for 4 genes) Panel
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 panelATP8B1 mutation analysis Panel
By Hehr Laboratory Center for Human Genetics - University of Regensburg
This panel specifically test the ATP8B1 gene.
More info about this panelCholestasis Sequencing Panel with CNV Detection Panel
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 panelProgressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection Panel
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 panelIntrahepatic Cholestasis via ATP8B1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ATP8B1 gene.
More info about this panelAlagille syndrome NGS panel Panel
By Connective Tissue Gene Tests Alagille syndrome NGS panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panelAlagille syndrome Deletion/ Duplication panel Panel
By Connective Tissue Gene Tests Alagille syndrome Deletion/ Duplication panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panelAlagille syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Alagille syndrome Comprehensive panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panelCholestasis Comprehensive Panel Panel
By Connective Tissue Gene Tests Cholestasis Comprehensive Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelCholestasis Deletion / Duplication Panel Panel
By Connective Tissue Gene Tests Cholestasis Deletion / Duplication Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelCholestasis NGS Panel Panel
By Connective Tissue Gene Tests Cholestasis NGS Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4
More info about this panelHepatic and pancreatic diseases - panels Panel
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 panelATP8B1-Related Intrahepatic Cholestasis Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ATP8B1 gene.
More info about this panelPFIC1 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ATP8B1 gene.
More info about this panelIntrahepatic cholestasis panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Intrahepatic cholestasis panel that also includes the following genes: ATP8B1 ABCB11 ABCB4
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelCholestasis, progressive familial intrahepatic 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP8B1 gene.
More info about this panelSingle gene testing ATP8B1 Panel
By CeGaT GmbH
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1-Related Intrahepatic Cholestasis Panel
By GGA - Galil Genetic Analysis
This panel specifically test the ATP8B1 gene.
More info about this panelLow GGT familial intrahepatic cholestasis, ATP8B1 sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ATP8B1 gene.
More info about this panelFamilial intrahepatic cholestasis type 1 (PFIC1-ATP8B1) Panel
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the ATP8B1 gene.
More info about this panelCholestasis, Benign recurrent intrahepatic: ATP8B1 gene mutation analysis (p.I661T) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP8B1 gene.
More info about this panelCHOLESTASIS INTRAHEPATIC Panel
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 panelNeonatal and Adult Cholestasis: Sequencing Panel Panel
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 panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelCholestasis NGS Panel Panel
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 panelATP8B1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP8B1 gene.
More info about this panelCholestasis Panel Panel
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 panelProgressive familial intrahepatic cholestasis type 1 Panel
By Bioarray
This panel specifically test the ATP8B1 gene.
More info about this panelATP8B1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ATP8B1 gene.
More info about this panelAlagille Syndrome NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Alagille Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panelProgressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel Panel
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 panelByler Disease (ATP8B1) Targeted Testing Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ATP8B1 gene.
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
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 panelCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC Panel
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 panelCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL Panel
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 panelProgressive Familial Intrahepatic Cholestasis Type 1, Massive Sequencing (NGS) ATP8B1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ATP8B1 gene.
More info about this panelFamilial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes Panel
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
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