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.

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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

SOURCES: OMIM ORPHANET

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


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

DRPLA (ATN1) Repeat Expansion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ATN1 gene.

More info about this panel

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

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

Dentatorubral pallidoluysian atrophy Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ATN1 gene.

More info about this panel

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

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

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

Dentatorubro-pallidoluysian atrophy Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the ATN1 gene.

More info about this panel

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

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

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

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

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

DRPLA Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATN1 gene.

More info about this panel

Dentatorubral-pallidoluysian atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATN1 gene.

More info about this panel

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

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

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

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

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

DRPLA - Dentatorubral-pallidoluysian Atrophy Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the ATN1 gene.

More info about this panel

Dentato-rubro-pallido-luysian atrophy Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ATN1 gene.

More info about this panel

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

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

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

ATN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATN1 gene.

More info about this panel

Dentatorubral-pallidoluysian atrophy Panel

Spain.

By Bioarray

This panel specifically test the ATN1 gene.

More info about this panel

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

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

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


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