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.

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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

SOURCES: MESH OMIM


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

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 7 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ATXN7 gene.

More info about this panel

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

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 7 Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the ATXN7 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 7 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the ATXN7 gene.

More info about this panel

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

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 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

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

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

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

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

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

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

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 7 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATXN7 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 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATXN7 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

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

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 ATXN7 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATXN7 gene.

More info about this panel

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

Spinocerebellar ataxia 7 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATXN7 gene.

More info about this panel

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

Spinocerebellar Ataxia 07 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ATXN7 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 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

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

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

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

ATXN7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATXN7 gene.

More info about this panel

Spinocerebellar ataxia type 7 Panel

Spain.

By Bioarray

This panel specifically test the ATXN7 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 7 Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the ATXN7 gene.

More info about this panel

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


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