PIK3R5 gene related symptoms and diseases

All the information presented here about the PIK3R5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PIK3R5 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Distal sensory impairment Very Common - Between 80% and 100% cases
Oculomotor apraxia Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Apraxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PIK3R5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Polyneuropathy
  • Sensory impairment
  • Hyporeflexia
  • Areflexia
  • Cerebellar atrophy
  • Dysarthria
  • Muscle weakness
  • Not very common - Between 30% and 50% cases

  • Diplopia

And 59 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PIK3R5 gene

Here you will find a list of rare diseases related to the PIK3R5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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 ).

Most common symptoms of ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy


More info about ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

SOURCES: OMIM

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Alternate names

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2, scan 2, scar1, ataxia-ocular apraxia 2, aoa2, ataxia-oculomotor apraxia type 2

Description

Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

Most common symptoms of SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

SOURCES: OMIM ORPHANET


Potential gene panels for PIK3R5 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Ataxia-oculomotor apraxia type 3 (sequence analysis of PIK3R5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PIK3R5 gene.

More info about this panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

More info about this panel

Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection that also includes the following genes: APTX PIK3R5 SETX

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Ataxia-oculomotor apraxia 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3R5 gene.

More info about this panel

Ataxia-oculomotor apraxia 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3R5 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

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 recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel

PIK3R5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIK3R5 gene.

More info about this panel

ATAXIA-OCULOMOTOR APRAXIA 3 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PIK3R5 gene.

More info about this panel

Ataxia with Oculomotor Apraxia , Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia with Oculomotor Apraxia , Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes that also includes the following genes: APTX PIK3R5 SETX

More info about this panel


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