VPS13A gene related symptoms and diseases
All the information presented here about the VPS13A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VPS13A gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Neuronal loss in central nervous system | Very Common - Between 80% and 100% cases |
Personality changes | Very Common - Between 80% and 100% cases |
Self-injurious behavior | Very Common - Between 80% and 100% cases |
Abnormality of vision | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with VPS13A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Drooling
- EMG abnormality
- Vasculitis
- Involuntary movements
- Progressive neurologic deterioration
- Psychosis
- Memory impairment
- Abnormality of the thyroid gland
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VPS13A gene
Here you will find a list of rare diseases related to the VPS13A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHOREOACANTHOCYTOSIS
Alternate names
CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis, chorea-acanthocytosis, chac, levine-critchley syndrome, acanthocytosis with neurologic disorder
Description
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
Most common symptoms of CHOREOACANTHOCYTOSIS
- Seizures
- Short stature
- Ataxia
- Nystagmus
- Muscle weakness
More info about CHOREOACANTHOCYTOSIS
Search interest in VPS13A
Potential gene panels for VPS13A gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
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 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 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 panelVPS13A. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VPS13A gene.
More info about this panelVPS13A. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VPS13A gene.
More info about this panelNeuroacanthocytosis (sequence analysis of VPS13A gene) Panel
By CGC Genetics
This panel specifically test the VPS13A gene.
More info about this panelDystonia (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 panelChorea-acanthocytosis Panel
By MGZ Medical Genetics Center
This panel specifically test the VPS13A gene.
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 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 panelChoreoacanthocytosis Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the VPS13A 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 panelSelected Genetic Syndromes with Seizures Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE
More info about this panelHereditary 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 panelNeuroacanthocytosis Panel Panel
By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A
More info about this panelDystonia 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 panelSingle gene testing VPS13A Panel
By CeGaT GmbH
This panel specifically test the VPS13A gene.
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 panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelVPS13A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VPS13A gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelParkinson Disease Panel Panel
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelDilated Cardiomyopathy (DCM) Panel Panel
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panelChoreoacanthocytosis Panel
By Bioarray
This panel specifically test the VPS13A gene.
More info about this panelCHOREO-ACANTHOCYTOSIS Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the VPS13A gene.
More info about this panelChorea-acanthocytosis, Sequencing VPS13A Gene Panel
By Reference Laboratory Genetics
This panel specifically test the VPS13A gene.
More info about this panelNeuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes Panel
By Reference Laboratory Genetics Neuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes that also includes the following genes: XK VPS13A
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ADCY1 RASA2 PRDM5 CSMD2 HLA-C FPGT-TNNI3K WNT1