Overview
Deficiency of phosphoriboisomerase is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Incoordination
Always present (100%)HP:0002311
Increased circulating ribitol concentration
Always present (100%)HP:0025550
Ataxia
HP:0001251
Decreased CSF erythritol concentration
HP:0410056
Decreased level of erythritol in urine
HP:0410055
Difficulty articulating speech
HP:0001260
Elevated brain polyol compounds by MRS
HP:0034894
Epilepsy
HP:0001250
Increased CSF D-threitol concentration
HP:0410058
Increased CSF xylitol concentration
HP:0410075
Increased level of D-threitol in plasma
HP:0410057
Increased level of D-threitol in urine
HP:0410059
Increased level of ribitol in cerebrospinal fluid
HP:0410071
Increased level of ribitol in urine
HP:0410070
Increased level of ribose in CSF
HP:0410073
Increased level of ribose in urine
HP:0410072
Increased level of xylitol in urine
HP:0410074
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Involuntary, rapid, rhythmic eye movements
HP:0000639
Leukoencephalopathy
HP:0002352
Nerve damage causing decreased feeling and movement
HP:0007141
Optic atrophy
HP:0000648
Polyneuropathy
HP:0001271
Related Conditions
Quick Facts
- SNOMED CT
- 124667004
- UMLS CUI
- C1291609
- Fully Specified Name
- Deficiency of ribose-5-phosphate isomerase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.