RPIA gene related symptoms and diseases
All the information presented here about the RPIA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPIA gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Elevated circulating ribitol concentration | Very Common - Between 80% and 100% cases |
Decreased level of erythritol in CSF | Very Common - Between 80% and 100% cases |
Increased level of xylitol in CSF | Very Common - Between 80% and 100% cases |
Increased level of D-threitol in plasma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPIA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased level of ribitol in CSF
- Increased level of D-threitol in urine
- Increased level of D-threitol in CSF
- Increased level of ribose in urine
- Increased level of ribitol in urine
- Increased level of xylitol in urine
- Increased level of ribose in CSF
- Global developmental delay
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPIA gene
Here you will find a list of rare diseases related to the RPIA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RIBOSE-5-P ISOMERASE DEFICIENCY
Description
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
Most common symptoms of RIBOSE-5-P ISOMERASE DEFICIENCY
- Seizures
- Global developmental delay
- Ataxia
- Nystagmus
- Spasticity
More info about RIBOSE-5-P ISOMERASE DEFICIENCY
Search interest in RPIA
Potential gene panels for RPIA gene
Ribose 5-fosfaat isomerase (RPIA) deficiency Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the RPIA gene.
More info about this panelAtaxia and differential diagnoses Panel Panel
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 panelRPIA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RPIA gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NUDT15 NALCN TDO2 FAM177A1 HMGB3 ZDHHC15 STAT2