ATP1A3 gene related symptoms and diseases
All the information presented here about the ATP1A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP1A3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dystonia | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Abnormality of eye movement | Common - Between 50% and 80% cases |
| Dysphagia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ATP1A3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cognitive impairment
- Intellectual disability
- Areflexia
- Parkinsonism
- Abnormality of the eye
- Hearing impairment
- Nystagmus
- Hemiparesis
And 128 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP1A3 gene
Here you will find a list of rare diseases related to the ATP1A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RAPID-ONSET DYSTONIA-PARKINSONISM
Alternate names
RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12, dystonia-parkinsonism, rapid-onset, rdp, dystonia 12
Description
Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
Most common symptoms of RAPID-ONSET DYSTONIA-PARKINSONISM
- Intellectual disability
- Seizures
- Generalized hypotonia
- Ataxia
- Motor delay
More info about RAPID-ONSET DYSTONIA-PARKINSONISM
ALTERNATING HEMIPLEGIA OF CHILDHOOD
Alternate names
ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc
Description
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
Most common symptoms of ALTERNATING HEMIPLEGIA OF CHILDHOOD
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD
CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME
Alternate names
CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome
Description
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
Most common symptoms of CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME
- Seizures
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Nystagmus
More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
Alternate names
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome, doa+
Description
Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).
Most common symptoms of OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
- Seizures
- Hearing impairment
- Ataxia
- Strabismus
- Sensorineural hearing impairment
More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
SOURCES: OMIM
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2
Description
Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).
Most common symptoms of ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2
SOURCES: OMIM
Search interest in ATP1A3
Potential gene panels for ATP1A3 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
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 panel United States.
Dystonia Panel
United States.
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 United States.
Movement Disorders Panel Panel
United States.
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 United States.
Parkinson's Disease Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R
More info about this panel United States.
ATP1A3 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 ATP1A3 gene.
More info about this panel United States.
ATP1A3 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the ATP1A3 gene.
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
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 United States.
Ataxia Exome Panel Panel
United States.
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 United States.
ATP1A3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ATP1A3 gene.
More info about this panel Germany.
Epilepsy Panel - Comprehensive Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel Argentina.
ATP1A3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
Alternating hemiplegia of childhood 2 (sequence analysis of ATP1A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATP1A3 gene.
More info about this panel Portugal.
Parkinson disease (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
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 Portugal.
CAPOS syndrome (sequence analysis of ATP1A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATP1A3 gene.
More info about this panel Portugal.
CAPOS syndrome (sequence analysis of ATP1A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATP1A3 gene.
More info about this panel Portugal.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Dystonia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
ATP1A3 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ATP1A3 gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
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 Germany.
Familial Hemiplegic Migraine Panel
Germany.
By MGZ Medical Genetics Center Familial Hemiplegic Migraine that also includes the following genes: SCN1A SLC2A1 CACNA1A ATP1A2 ATP1A3
More info about this panel Germany.
DYT12 dystonia parkinsonism Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP1A3 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 Germany.
Parkinsons disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
Migraine Panel Panel
Germany.
By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panel Germany.
Parkinson all Panel Panel
Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
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 Germany.
Atypical Parkinson syndrome Panel Panel
Germany.
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panel Germany.
Parkinson Dystonia Panel Panel
Germany.
By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA
More info about this panel Germany.
Dystonia Plus Syndrome Panel Panel
Germany.
By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
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 Germany.
Single gene testing ATP1A3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ATP1A3 gene.
More info about this panel Germany.
Ataxia, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR
More info about this panel Germany.
Dystonia Panel
Estonia.
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 Estonia.
Parkinson Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
Invitae Dystonia Comprehensive Panel Panel
United States.
By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Invitae Alternating Hemiplegia of Childhood Panel Panel
United States.
By Invitae Invitae Alternating Hemiplegia of Childhood Panel that also includes the following genes: ATP1A2 ATP1A3
More info about this panel United States.
Dystonia type 12: ATP1A3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
Hemiplejia of chidhood, Alternating 2: ATP1A3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
DYSTONIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
NGS panel - Parkinson Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
Dystonia: Sequencing Panel Panel
United States.
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 United States.
Dystonia Dyskinesia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A
More info about this panel United States.
Parkinson-Alzheimer-Dementia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panel United States.
Hemiplegia/Stroke NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hemiplegia/Stroke NGS Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 COL4A2 NOTCH3 ATP1A2 ATP1A3 OTC POLG
More info about this panel United States.
ATP1A3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP1A3 gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
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 panel Finland.
Migraine Panel Panel
Finland.
By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panel Finland.
Parkinson Disease Panel Panel
Finland.
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 panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
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 panel Finland.
Dystonia Panel Panel
Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
Alternating hemiplegia of childhood type 2 Panel
Spain.
By Bioarray
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
ALTERNATING HEMIPLEGIA OF CHILDHOOD Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
RAPID-ONSET DYSTONIA-PARKINSONISM (DYT12) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
SPINOCEREBELLAR ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
Dystonia 12 Panel
Canada.
By LifeLabs Genetics
This panel specifically test the ATP1A3 gene.
More info about this panel Canada.
Rapid Onset Dystonia-Parkinsonism (DPR) , Sequencing ATP1A3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ATP1A3 gene.
More info about this panel Spain.
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
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