ATP7B gene related symptoms and diseases
All the information presented here about the ATP7B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP7B gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Leukoencephalopathy | Very Common - Between 80% and 100% cases |
Pathologic fracture | Very Common - Between 80% and 100% cases |
Global brain atrophy | Very Common - Between 80% and 100% cases |
Oral-pharyngeal dysphagia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATP7B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Personality changes
- Abnormality of mitochondrial metabolism
- Hypercalciuria
- Back pain
- Abnormality of the hand
- Schizophrenia
- Drooling
- Leukopenia
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP7B gene
Here you will find a list of rare diseases related to the ATP7B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WILSON DISEASE
Alternate names
WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd
Description
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Most common symptoms of WILSON DISEASE
- Intellectual disability
- Growth delay
- Neoplasm
- Failure to thrive
- Spasticity
More info about WILSON DISEASE
Search interest in ATP7B
Potential gene panels for ATP7B gene
ATP7B Comprehensive - Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B Sequence Analysis (Prenatal Diagnosis) Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ATP7B gene.
More info about this panel
MitoMet®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 panel
GeneAware Complete Panel Version 2 (Female) Panel

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
GeneAware Complete Panel Version 2 (Male) Panel

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel
Wilson's disease Panel

By Center for Human Genetics, Inc
This panel specifically test the ATP7B gene.
More info about this panel
Dystonia Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel
Movement Disorders Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel
Wilson's Disease Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease Panel

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the ATP7B gene.
More info about this panel
Wilsons disease Panel

By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B 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 ATP7B gene.
More info about this panel
Liver 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 panel
ATP7B 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 ATP7B gene.
More info about this panel
Liver 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 panel
ATP7B sequencing Panel

By Genetic Services Laboratory University of Chicago
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B deletion/duplication analysis Panel

By Genetic Services Laboratory University of Chicago
This panel specifically test the ATP7B gene.
More info about this panel
Dystonia Exome Panel Panel

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel
Ataxia Exome Panel Panel

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel
Wilson Disease Panel

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease (ATP7B) Sequencing Panel

By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B. Sequencing of the exons 6, 8, 13, 14, 15, 16, 17 and 20 Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B. MLPA testing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease (deletion/duplication analysis of ATP7B gene) Panel

By CGC Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease (sequence analysis of ATP7B gene) Panel

By CGC Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Dystonia (NGS panel for 43 genes) Panel

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel
Wilson Disease Panel

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease / Hepatolenticular Degeneration via ATP7B Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the ATP7B gene.
More info about this panel
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel
Wilson disease Comprehensive Test Panel

By Connective Tissue Gene Tests
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease NGS Test Panel

By Connective Tissue Gene Tests
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Deletion / Duplication Test Panel

By Connective Tissue Gene Tests
This panel specifically test the ATP7B gene.
More info about this panel
Hereditary kidney disorders - different panels Panel

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel
Hepatic 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 panel
Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel
Wilson Disease Panel

By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By DNA Diagnostics Laboratory University Hospital Ostrava
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease Panel

By GeneTech ATS GeneTech Private Limited
This panel specifically test the ATP7B gene.
More info about this panel
Comprehensive mitochondrial disorders panel Panel

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel
Wilson disease Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the ATP7B gene.
More info about this panel
AllNeuro panel Panel

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel
CentoICU 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 panel
New 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 panel
ATP7B full gene sequencing Panel

By Michigan Medical Genetics Laboratories University of Michigan
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease Panel

By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the ATP7B gene.
More info about this panel
Hereditary Degenerative Syndromes Panel Panel

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panel
Ataxia and differential diagnoses Panel Panel

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel
Dystonia All Panel Panel

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel
Single gene testing ATP7B Panel

By CeGaT GmbH
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease (ATP7B) Panel

By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease Panel

By Asper Biogene Asper Biogene LLC
This panel specifically test the ATP7B gene.
More info about this panel
Dystonia Panel

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) Panel

By BLOODGENETICS BLOODGENETICS NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) that also includes the following genes: SLC11A2 TF TMPRSS6 ACVR1 CP STEAP3 ATP4A ATP7B
More info about this panel
Wilson disease, ATP7B sequencing Panel

By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease Panel

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By Praxis fuer Humangenetik Wien
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B Panel

By Division Human Genetics Medical University Innsbruck
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B mutation screen (Wilson disease) Panel

By Molecular Diagnosis Centre National University Hospital
This panel specifically test the ATP7B gene.
More info about this panel
Family Prep Screen Panel

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel
qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel
Wilson disease Panel

By MedGene
This panel specifically test the ATP7B gene.
More info about this panel
Invitae Wilson Disease Test Panel

By Invitae
This panel specifically test the ATP7B gene.
More info about this panel
Invitae Copper Metabolism Disorders Panel Panel

By Invitae Invitae Copper Metabolism Disorders Panel that also includes the following genes: CP AP1S1 ATP7A ATP7B SLC33A1
More info about this panel
Invitae Treatable Neurometabolic Disorders Panel Panel

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel
Wilson syndrome: ATP7B gene Deletions-Duplications analysis (MLPA) Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease: ATP7B gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease: ATP7B gene screening (exons 2, 14, 18) Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease: ATP7B Full Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ATP7B gene.
More info about this panel
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel
Dystonia: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel
Wilson Disease (ATP7B), Full Gene Analysis Panel

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the ATP7B gene.
More info about this panel
Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panel
Wilson Disease (ATP7B) Panel

By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Inheritest NGS, Comprehensive Panel

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel
Nuclear-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 panel
ATP7B Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP7B gene.
More info about this panel
WILSON-Complete Panel

By PentaCoreLab WILSON-Complete that also includes the following genes: ATP7B PRNP
More info about this panel
KidneySeq - 264 Genes Panel

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel
Comprehensive Metabolism Panel Panel

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel
Metabolic Liver Failure Panel Panel

By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1
More info about this panel
Wilson disease Panel

By Bioarray
This panel specifically test the ATP7B gene.
More info about this panel
ATP7B 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 ATP7B 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 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
WILSON DISEASE Panel

By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP7B gene.
More info about this panel
PARKINSON NGS PANEL Panel

By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6
More info about this panel
Wilson Disease, Sequencing ATP7B Gene Panel

By Reference Laboratory Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease, Sequencing Exons (2,14,18) ATP7B Gene Panel

By Reference Laboratory Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson Disease , Deletions-Duplications (MLPA) ATP7B Gene Panel

By Reference Laboratory Genetics
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By Labor Dr. Wisplinghoff
This panel specifically test the ATP7B gene.
More info about this panel
Wilson disease Panel

By Joingenome Diagnostics
This panel specifically test the ATP7B gene.
More info about this panel
planTrue Extended Panel

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel
Tempus xT assay Panel

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
Wilson disease Panel

By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the ATP7B gene.
More info about this panel
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