CP gene related symptoms and diseases
All the information presented here about the CP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CP gene
Symptoms // Phenotype | % Cases |
---|---|
Dementia | Very Common - Between 80% and 100% cases |
Dysarthria | Very Common - Between 80% and 100% cases |
Fatigue | Very Common - Between 80% and 100% cases |
Spasticity | Very Common - Between 80% and 100% cases |
Chondrocalcinosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Involuntary movements
- Hypocupremia
- Cirrhosis
- Neurodegeneration
- Chorea
- Progressive neurologic deterioration
- Intellectual disability
- Poor speech
And 207 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CP gene
Here you will find a list of rare diseases related to the CP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACERULOPLASMINEMIA
Alternate names
ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency
Description
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Most common symptoms of ACERULOPLASMINEMIA
- Ataxia
- Spasticity
- Cognitive impairment
- Anemia
- Delayed speech and language development
More info about ACERULOPLASMINEMIA
MENKES DISEASE
Alternate names
MENKES DISEASE Is also known as steely hair syndrome, md, trichopoliodystrophy, mnk, menkes syndrome, steely hair disease, copper transport disease, mk, kinky hair syndrome, x-linked copper deficiency, kinky hair disease
Description
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Most common symptoms of MENKES DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MENKES DISEASE
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 CP
Potential gene panels for CP gene
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panelDystonia 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 panelMaturity-Onset Diabetes of the Young Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP
More info about this panelMovement 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 panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panelCP deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the CP gene.
More info about this panelCP sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the CP gene.
More info about this panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panelNBIA Deletion/Duplication Analysis Panel
By Genetic Services Laboratory University of Chicago NBIA Deletion/Duplication Analysis that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNBIA Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago NBIA Sequencing Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelDystonia 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 panelAtaxia 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 panelHyperferritinemia Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2
More info about this panelCP. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CP gene.
More info about this panelCerebellar ataxia (sequence analysis of CP gene) Panel
By CGC Genetics
This panel specifically test the CP gene.
More info about this panelAceruloplasminemia/Hypoceruloplasminemia Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CP gene.
More info about this panelAceruloplasminemia via CP Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CP gene.
More info about this panelNeurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: PANK2 NALCN FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL
More info about this panelParkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panelNeurogenetic 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 panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel
By MGZ Medical Genetics Center Neurodegeneration with Brain Iron Accumulation (NBIA) that also includes the following genes: ATL1 SPAST PANK2 FA2H CP C19orf12 DCAF17 IBA57 WDR45 ATP13A2
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelCeruloplasmin (ferroxidase) deficiency (CP) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the CP gene.
More info about this panelCerebellar ataxia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CP gene.
More info about this panelAllNeuro 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 panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel Panel
By CeGaT GmbH Neurodegeneration with Brain Iron Accumulation (NBIA) Panel that also includes the following genes: SCP2 REPS1 PANK2 FA2H CP C19orf12 DCAF17 SLC25A42 WDR45 COASY
More info about this panelAtaxia 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 panelSingle gene testing CP Panel
By CeGaT GmbH
This panel specifically test the CP gene.
More info about this panelAtaxia, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panelAceruloplasminemia (CP) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CP gene.
More info about this panelNeurodegeneration with Brain Iron Accumulation Panel
By Asper Biogene Asper Biogene LLC Neurodegeneration with Brain Iron Accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelACERULOPLASMINEMIA Panel
By BLOODGENETICS BLOODGENETICS
This panel specifically test the CP gene.
More info about this panelNGS 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 panelNGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45
More info about this panelInvitae 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 panelInvitae Neurodegeneration with Brain Iron Accumulation Panel Panel
By Invitae Invitae Neurodegeneration with Brain Iron Accumulation Panel that also includes the following genes: SQSTM1 PANK2 CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL FUCA1
More info about this panelInvitae 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 panelAceruloplasminemia: CP gene equence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CP gene.
More info about this panelNeurodegeneration with Brain Iron Accumulation Disorders Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neurodegeneration with Brain Iron Accumulation Disorders that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panelNGS panel - Neurodegeneration with brain iron accumulation Panel
By Genome Diagnostics VU University Medical Center NGS panel - Neurodegeneration with brain iron accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelDystonia: 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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelMODY Neonatal Diabetes NGS Panel Panel
By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57
More info about this panelCP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CP gene.
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelAceruloplasminemia Panel
By Bioarray
This panel specifically test the CP gene.
More info about this panelNeurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panelCP 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 CP gene.
More info about this panelACERULOPLASMINEMIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the CP gene.
More info about this panelNEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelAceruloplasminemia (CP) Panel
By Genera
This panel specifically test the CP gene.
More info about this panelAceruloplasminemia , Sequencing CP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CP gene.
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNeurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panelNeurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
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