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.
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
Search interest in ATXN3
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 United States.
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 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.
Spinocerebellar ataxia 3 Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the ATXN3 gene.
More info about this panel United States.
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 Argentina.
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 United States.
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 Canada.
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.
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 United States.
Spinocerebellar ataxia 3 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the ATXN3 gene.
More info about this panel Switzerland.
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 United Kingdom.
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 Cyprus.
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 Cyprus.
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 Italy.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 India.
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 Argentina.
Spinocerebellar Ataxia Type 3 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ATXN3 gene.
More info about this panel Germany.
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 Netherlands.
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 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.
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.
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.
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 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.
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.
Single gene testing ATXN3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ATXN3 gene.
More info about this panel Germany.
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 India.
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 United Kingdom.
Spinocerebellar ataxia 3 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ATXN3 gene.
More info about this panel Germany.
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 United States.
Spinocerebellar Ataxia 03 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ATXN3 gene.
More info about this panel Austria.
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 Spain.
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 Spain.
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 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.
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.
ATXN3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATXN3 gene.
More info about this panel United States.
Spinocerebellar ataxia type 3 Panel
Spain.
By Bioarray
This panel specifically test the ATXN3 gene.
More info about this panel Spain.
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 Spain.
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.
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 Canada.
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 India.
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 India.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NCKAP5 GAS1 ACTG2