Ataxia-oculomotor Apraxia 3; Aoa3

Description

AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia-oculomotor Apraxia 3; Aoa3

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy
  • Areflexia
  • Hyporeflexia
  • Dysmetria
  • Unsteady gait
  • Falls

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Ataxia-oculomotor Apraxia 3; Aoa3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Ataxia-oculomotor apraxia type 3 (sequence analysis of PIK3R5 gene).

By CGC Genetics (Portugal).

PIK3R5
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

APTX, PIK3R5, SETX
Specificity
34 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Ataxia-oculomotor apraxia 3.

By Centogene AG - the Rare Disease Company (Germany).

PIK3R5
Specificity
100 %
Genes
100 %
Ataxia-oculomotor apraxia 3.

By Centogene AG - the Rare Disease Company (Germany).

PIK3R5
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %

We have 6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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