ATXN3 gene related symptoms and diseases

All the information presented here about the ATXN3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATXN3 gene

Symptoms // Phenotype % Cases
Gaze-evoked nystagmus Very Common - Between 80% and 100% cases
Progressive cerebellar ataxia Very Common - Between 80% and 100% cases
Proptosis Very Common - Between 80% and 100% cases
Facial-lingual fasciculations Very Common - Between 80% and 100% cases
Babinski sign Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATXN3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Supranuclear ophthalmoplegia
  • Dystonia
  • Cerebellar atrophy
  • Dysphagia
  • Muscle cramps
  • Skeletal muscle atrophy
  • Dysarthria
  • Abnormality of extrapyramidal motor function

And 89 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ATXN3 gene

Here you will find a list of rare diseases related to the ATXN3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MACHADO-JOSEPH DISEASE; MJD


Alternate names

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3, spinocerebellar atrophy iii, spinopontine atrophy, azorean neurologic disease, nigrospinodentatal degeneration, sca3

Description

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

Most common symptoms of MACHADO-JOSEPH DISEASE; MJD

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


More info about MACHADO-JOSEPH DISEASE; MJD

SOURCES: OMIM

MACHADO-JOSEPH DISEASE TYPE 1


Alternate names

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type, sca3, joseph type

Description

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

Most common symptoms of MACHADO-JOSEPH DISEASE TYPE 1

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


More info about MACHADO-JOSEPH DISEASE TYPE 1

SOURCES: ORPHANET

MACHADO-JOSEPH DISEASE TYPE 2


Alternate names

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type, spinocerebellar ataxia, thomas type

Description

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

Most common symptoms of MACHADO-JOSEPH DISEASE TYPE 2

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


More info about MACHADO-JOSEPH DISEASE TYPE 2

SOURCES: ORPHANET

MACHADO-JOSEPH DISEASE TYPE 3


Alternate names

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type, spinocerebellar ataxia type 3, machado type

Description

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

Most common symptoms of MACHADO-JOSEPH DISEASE TYPE 3

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


More info about MACHADO-JOSEPH DISEASE TYPE 3

SOURCES: ORPHANET


Potential gene panels for ATXN3 gene

SCA3 (MJD/ATXN3) Repeat Expansion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ATXN3 gene.

More info about this panel

Ataxia, Common Repeat Expansion Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Common Repeat Expansion Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS TBP CACNA1A ATXN3

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

Spinocerebellar ataxia 3 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxia type 3 Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7) that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

Spinocerebellar ataxia type 3 Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the ATXN3 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

Spinocerebellar Ataxia: Panel of SCA1, SCA2, SCA3, SCA6, SCA7 Panel

United States.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force Spinocerebellar Ataxia: Panel of SCA1, SCA2, SCA3, SCA6, SCA7 that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

Spinocerebellar ataxia 3 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia Type 3 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the ATXN3 gene.

More info about this panel

SCA Panel (SCA1, 2, 3, 6, 7) test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics SCA Panel (SCA1, 2, 3, 6, 7) test that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

Ataxin 3 (ATXN3) gene CAG triplet repeat test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia 3 Panel

Italy.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR

This panel specifically test the ATXN3 gene.

More info about this panel

ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A. Detection of the expansions associated to SCA1, SCA2, SCA3, SCA6 and SCA7 by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A. Detection of the expansions associated to SCA1, SCA2, SCA3, SCA6 and SCA7 by PCR that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

ATXN3. CAG expansion detection by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia type 3, Machado Joseph disease (CAG expansion on ATXN3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxias SCA1, SCA2, SCA3, SCA6 and SCA7 (CAG expansion on genes ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7) Panel

Portugal.

By CGC Genetics Spinocerebellar ataxias SCA1, SCA2, SCA3, SCA6 and SCA7 (CAG expansion on genes ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7) that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

Spinocerebellar ataxias SCA1, SCA2, SCA3 and SCA6 (CAG expansion on genes ATXN1, ATXN2, ATXN3 and CACNA1A) Panel

Portugal.

By CGC Genetics Spinocerebellar ataxias SCA1, SCA2, SCA3 and SCA6 (CAG expansion on genes ATXN1, ATXN2, ATXN3 and CACNA1A) that also includes the following genes: ATXN1 ATXN2 CACNA1A ATXN3

More info about this panel

SCA 3 Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia Panel (SCA1, SCA2, SCA3, SCA6, SCA7) Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Spinocerebellar Ataxia Panel (SCA1, SCA2, SCA3, SCA6, SCA7) that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

Spinocerebellar Ataxia Type 3 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATXN3 gene.

More info about this panel

Ataxia (AD/AR) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Ataxia (AD/AR) panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP CACNA1A APTX AFG3L2 FGF14 FXN SETX

More info about this panel

Spinocerebellar ataxia type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATXN3 gene.

More info about this panel

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

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

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

Choreatic Movement Disorders Panel Panel

Germany.

By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72

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

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

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

Single gene testing ATXN3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia 3 Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the ATXN3 gene.

More info about this panel

Test for Spinocerebellar Ataxia Type 3 Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxia 3 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATXN3 gene.

More info about this panel

SCA3 Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar Ataxia 03 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10 and SCA17 Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10 and SCA17 that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS TBP CACNA1A ATXN3

More info about this panel

Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6 and SCA7 Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6 and SCA7 that also includes the following genes: ATXN1 ATXN2 ATXN7 CACNA1A ATXN3

More info about this panel

Spinocerebellar ataxia type 3 (SCA3): CAG expansion analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATXN3 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

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

ATXN3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxia type 3 Panel

Spain.

By Bioarray

This panel specifically test the ATXN3 gene.

More info about this panel

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP CACNA1A NOP56 TGM6

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

Spinocerebellar Ataxia Type 3: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxia type 3 Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the ATXN3 gene.

More info about this panel

Spinocerebellar ataxia type 3 presymptomatic testing Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the ATXN3 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICA CYBB HECW2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more