ATN1 gene related symptoms and diseases
All the information presented here about the ATN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Involuntary movements | Very Common - Between 80% and 100% cases |
| Nystagmus | Very Common - Between 80% and 100% cases |
| Cognitive impairment | Very Common - Between 80% and 100% cases |
| Dysarthria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dementia
- Myoclonus
- Ataxia
- Choreoathetosis
Not very common - Between 30% and 50% cases
- Dyssynergia
- Cerebellar atrophy
- Cerebral atrophy
- Dilatation
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATN1 gene
Here you will find a list of rare diseases related to the ATN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DENTATORUBRAL PALLIDOLUYSIAN ATROPHY
Alternate names
DENTATORUBRAL PALLIDOLUYSIAN ATROPHY Is also known as dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease
Description
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Most common symptoms of DENTATORUBRAL PALLIDOLUYSIAN ATROPHY
- Seizures
- Ataxia
- Nystagmus
- Cognitive impairment
- Dysarthria
More info about DENTATORUBRAL PALLIDOLUYSIAN ATROPHY
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
Alternate names
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs, ataxia, chorea, seizures, and dementia, haw river syndrome, nod, naito-oyanagi disease, myoclonic epilepsy with choreoathetosis
Most common symptoms of DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
- Seizures
- Ataxia
- Nystagmus
- Cognitive impairment
- Dysarthria
More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
SOURCES: OMIM
Search interest in ATN1
Potential gene panels for ATN1 gene
Chorea Differential Evaluation Panel
United States.
By Athena Diagnostics Inc Chorea Differential Evaluation that also includes the following genes: ATN1 HTT
More info about this panel United States.
DRPLA (ATN1) Repeat Expansion Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the ATN1 gene.
More info about this panel United States.
Ataxia, Comprehensive Evaluation Panel
United States.
By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA
More info about this panel United States.
Ataxia, Complete Dominant Evaluation Panel
United States.
By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A
More info about this panel United States.
Dentatorubral pallidoluysian atrophy Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the ATN1 gene.
More info about this panel United States.
Dentatorubro-pallidoluysian atrophy Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the ATN1 gene.
More info about this panel Argentina.
DRPLA - Dentatorubral-Pallidoluysian Atrophy Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the ATN1 gene.
More info about this panel United States.
Ataxia Repeat Expansion Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Repeat Expansion Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS TBP CACNA1A ATN1 FXN ATXN3
More info about this panel United States.
Dentatorubro-pallidoluysian atrophy Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the ATN1 gene.
More info about this panel Switzerland.
Dentatorubral-pallidoluysian atrophy Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ATN1 gene.
More info about this panel United Kingdom.
Atrophin 1 (ATN1) gene CAG triplet repeat test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the ATN1 gene.
More info about this panel Cyprus.
ATN1. CAG expansion detection by PCR Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATN1 gene.
More info about this panel Spain.
Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat expansion on ATN1 gene Panel
Portugal.
By CGC Genetics
This panel specifically test the ATN1 gene.
More info about this panel Portugal.
Dentatorubral-pallidoluysian atrophy (DRPLA) Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ATN1 gene.
More info about this panel India.
DRPLA Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ATN1 gene.
More info about this panel Germany.
Dentatorubral-pallidoluysian atrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATN1 gene.
More info about this panel Germany.
Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 TBP CACNA1A NOP56 ATN1 ATXN8 ATXN3
More info about this panel United States.
Hereditary Degenerative Syndromes Panel Panel
Germany.
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 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.
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.
Dentatorubral-pallidoluysian atrophy Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the ATN1 gene.
More info about this panel India.
DRPLA - Dentatorubral-pallidoluysian Atrophy Panel
Spain.
By Medical Genetics Unit Sistemas Genómicos
This panel specifically test the ATN1 gene.
More info about this panel Spain.
Dentato-rubro-pallido-luysian atrophy Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ATN1 gene.
More info about this panel Austria.
ATN1 Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the ATN1 gene.
More info about this panel Colombia.
Dentatorubral-pallidoluysian atrophy (DRPLA): ATN1 gene, CAG expansion analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATN1 gene.
More info about this panel Spain.
Spinocerebellar ataxia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panel Spain.
ATN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATN1 gene.
More info about this panel United States.
Dentatorubral-pallidoluysian atrophy Panel
Spain.
By Bioarray
This panel specifically test the ATN1 gene.
More info about this panel Spain.
Dentatorubropallidoluysian atrophy (DRPLA) mutation analysis Panel
India.
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the ATN1 gene.
More info about this panel India.
Spinocerebellar ataxia panel Panel
Canada.
By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56
More info about this panel Canada.
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
Spain.
By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A
More info about this panel Spain.
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