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.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

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

SOURCES: ORPHANET OMIM

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). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Intrahepatic Cholestasis of PregnancySee also ICP3 (OMIM ), caused by mutation in the ABCB4 gene (OMIM ).

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


Potential gene panels for ATP8B1 gene

ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

ATP8B1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

ATP8B1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

ATP8B1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

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
United States.

Cholestasis Panel

United States.

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 panel
United States.

ATP8B1 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 ATP8B1 gene.

More info about this panel
United States.

ATP8B1 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 ATP8B1 gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

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
United States.

ATP8B1 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the ATP8B1 gene.

More info about this panel
Netherlands.

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
Spain.

ATP8B1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP8B1 gene.

More info about this panel
Spain.

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
United States.

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
United States.

Familial Intrahepatic Cholestasis (sequence analysis of ATP8B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP8B1 gene.

More info about this panel
Portugal.

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
Portugal.

ATP8B1 mutation analysis Panel

Germany.

By Hehr Laboratory Center for Human Genetics - University of Regensburg

This panel specifically test the ATP8B1 gene.

More info about this panel
Germany.

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
United States.

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
United States.

Intrahepatic Cholestasis via ATP8B1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

Alagille syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Alagille syndrome NGS panel that also includes the following genes: ATP8B1 JAG1 NOTCH2

More info about this panel
United States.

Alagille syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Alagille syndrome Deletion/ Duplication panel that also includes the following genes: ATP8B1 JAG1 NOTCH2

More info about this panel
United States.

Alagille syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Alagille syndrome Comprehensive panel that also includes the following genes: ATP8B1 JAG1 NOTCH2

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

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
Germany.

ATP8B1-Related Intrahepatic Cholestasis Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ATP8B1 gene.

More info about this panel
Germany.

PFIC1 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ATP8B1 gene.

More info about this panel
Netherlands.

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
Netherlands.

CentoICU platinum plus Panel

Germany.

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 panel
Germany.

New Born testing (CentoICU) Panel

Germany.

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 panel
Germany.

Cholestasis, progressive familial intrahepatic 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP8B1 gene.

More info about this panel
Germany.

Single gene testing ATP8B1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP8B1 gene.

More info about this panel
Germany.

ATP8B1-Related Intrahepatic Cholestasis Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ATP8B1 gene.

More info about this panel
Israel.

Low GGT familial intrahepatic cholestasis, ATP8B1 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

Familial intrahepatic cholestasis type 1 (PFIC1-ATP8B1) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc

This panel specifically test the ATP8B1 gene.

More info about this panel
Belgium.

Cholestasis, Benign recurrent intrahepatic: ATP8B1 gene mutation analysis (p.I661T) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP8B1 gene.

More info about this panel
Spain.

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
Spain.

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
United States.

Nuclear-Mito NGS Panel Panel

United States.

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 panel
United States.

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
United States.

ATP8B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

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
Finland.

Progressive familial intrahepatic cholestasis type 1 Panel

Spain.

By Bioarray

This panel specifically test the ATP8B1 gene.

More info about this panel
Spain.

ATP8B1 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 ATP8B1 gene.

More info about this panel
United States.

Alagille Syndrome NGS and Deletion/Duplication Panel Panel

United States.

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 panel
United States.

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
United States.

Byler Disease (ATP8B1) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ATP8B1 gene.

More info about this panel
United States.

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
Taiwan.

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
Spain.

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
Spain.

Progressive Familial Intrahepatic Cholestasis Type 1, Massive Sequencing (NGS) ATP8B1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP8B1 gene.

More info about this panel
Spain.

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
Spain.

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