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.
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
Search interest in PIK3R5
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 United States.
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 Portugal.
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 Portugal.
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 United States.
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 Germany.
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 Germany.
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 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.
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 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 Germany.
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 Spain.
PIK3R5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIK3R5 gene.
More info about this panel United States.
ATAXIA-OCULOMOTOR APRAXIA 3 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PIK3R5 gene.
More info about this panel Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EDA2R DCTN1 RLIM TCHH