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  3. RPIA

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.

Table of contents:

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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for RPIA gene

Ribose 5-fosfaat isomerase (RPIA) deficiency Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the RPIA gene.

More info about this panel
Netherlands.

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.

RPIA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RPIA gene.

More info about this panel
United States.

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