Ribose 5-phosphate isomerase deficiency

Preferred Label : Ribose 5-phosphate isomerase deficiency;

Symbol : RPIAD;

CISMeF acronym : RPIAD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ribose 5-phosphate isomerase A gene (RPIA, 180430.0001);

Laboratory abnormalities : Elevated urinary and CSF ribitol and D-arabitol; Deficient ribose-S-phosphate isomerase (RPI) in fibroblasts;

Prefixed ID : #608611;

Details

Origin ID

608611;

UMLS CUI

C1291609;

Automatic exact mappings (from CISMeF team)
- Ribose-5-P isomerase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of ribose-5-phosphate isomerase (disorder) [SNOMED CT concept]
- Ribose-5-phosphate isomerase deficiency [ICD-11 More detail]
- ribose 5-Phosphate isomerase deficiency [MeSH concept]
- ribose 5-Phosphate isomerase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Ribose 5-phosphate isomerase a [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased level of erythritol in CSF [HPO term]
- Decreased level of erythritol in urine [HPO term]
- Dysarthria [HPO term]
- Elevated circulating ribitol concentration [HPO term]
- Global developmental delay [HPO term]
- Incoordination [HPO term]
- Increased level of D-threitol in CSF [HPO term]
- Increased level of D-threitol in plasma [HPO term]
- Increased level of D-threitol in urine [HPO term]
- Increased level of ribitol in CSF [HPO term]
- Increased level of ribitol in urine [HPO term]
- Increased level of ribose in CSF [HPO term]
- Increased level of ribose in urine [HPO term]
- Increased level of xylitol in CSF [HPO term]
- Increased level of xylitol in urine [HPO term]
- Leukoencephalopathy [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Polyneuropathy [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Sensorimotor neuropathy [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Ribose-5-P isomerase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of ribose-5-phosphate isomerase (disorder) [SNOMED CT concept]
- Ribose-5-P isomerase deficiency [ORDO Disease]
- Ribose-5-phosphate isomerase deficiency [ICD-11 More detail]
- ribose 5-Phosphate isomerase deficiency [MeSH Supplementary Concept]
- ribose 5-Phosphate isomerase deficiency [MeSH concept]

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