ATXN7 gene related symptoms and diseases
All the information presented here about the ATXN7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATXN7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Visual loss | Common - Between 50% and 80% cases |
| Ataxia | Common - Between 50% and 80% cases |
| Orofacial dyskinesia | Common - Between 50% and 80% cases |
| Ophthalmoparesis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ATXN7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Macular degeneration
- Dysmetria
- Mental deterioration
- Reduced visual acuity
- Babinski sign
- Ophthalmoplegia
- Hyperreflexia
- Blindness
And 54 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATXN7 gene
Here you will find a list of rare diseases related to the ATXN7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 7
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy, sca7, cerebellar syndrome-pigmentary maculopathy syndrome
Description
Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 7
- Global developmental delay
- Ataxia
- Nystagmus
- Failure to thrive
- Muscle weakness
More info about SPINOCEREBELLAR ATAXIA TYPE 7
SOURCES: ORPHANET
SPINOCEREBELLAR ATAXIA 7; SCA7
Alternate names
SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii, opca with macular degeneration and external ophthalmoplegia, adca, type ii, olivopontocerebellar atrophy iii, opca3, opca with retinal degeneration, autosomal dominant cerebellar ataxia, type ii
Description
Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).
Most common symptoms of SPINOCEREBELLAR ATAXIA 7; SCA7
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
- Failure to thrive
More info about SPINOCEREBELLAR ATAXIA 7; SCA7
SOURCES: OMIM
HYPERREFLEXIA; HRX
Description
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
Most common symptoms of HYPERREFLEXIA; HRX
- Microcephaly
- Abnormality of retinal pigmentation
- Ankle clonus
More info about HYPERREFLEXIA; HRX
Search interest in ATXN7
Potential gene panels for ATXN7 gene
SCA7 (ATXN7) Repeat Expansion Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the ATXN7 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 7 Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the ATXN7 gene.
More info about this panel United States.
Spinocerebellar ataxia type 7 Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the ATXN7 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 7 Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the ATXN7 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 7 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the ATXN7 gene.
More info about this panel Switzerland.
Spinocerebellar Ataxia Type 7 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ATXN7 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 7 (ATXN7) gene CAG triplet repeat test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the ATXN7 gene.
More info about this panel Cyprus.
Spinocerebellar Ataxia 7 Panel
Italy.
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the ATXN7 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.
ATXN7. CAG expansion detection by PCR Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATXN7 gene.
More info about this panel Spain.
Spinocerebellar ataxia 7 (SCA7, CAG expansion on ATXN7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATXN7 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.
SCA 7 Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ATXN7 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 7 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ATXN7 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 7 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATXN7 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.
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.
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 ATXN7 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ATXN7 gene.
More info about this panel Germany.
Test for Spinocerebellar Ataxia Type 7 Panel
United Kingdom.
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the ATXN7 gene.
More info about this panel United Kingdom.
Spinocerebellar ataxia 7 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ATXN7 gene.
More info about this panel Germany.
SCA7 Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ATXN7 gene.
More info about this panel United States.
Spinocerebellar Ataxia 07 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ATXN7 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 7 (SCA7): CAG expansion analysis (TP-PCR) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATXN7 gene.
More info about this panel Spain.
Spinocerebellar ataxia type 7 (SCA7): CAG expansion analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATXN7 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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
ATXN7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATXN7 gene.
More info about this panel United States.
Spinocerebellar ataxia type 7 Panel
Spain.
By Bioarray
This panel specifically test the ATXN7 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 7 Panel
India.
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the ATXN7 gene.
More info about this panel India.
Spinocerebellar ataxia type 7 presymptomatic testing Panel
India.
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the ATXN7 gene.
More info about this panel India.
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