Details of Disease | DrugMAP

General Information of Disease (ID: DISOIVXL)

Disease Name	Ribose-5-P isomerase deficiency
Synonyms	ribose 5-phosphate isomerase deficiency
Definition	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.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISR5M3F: Inborn disorder of pentose phosphate metabolism DISOIVXL: Ribose-5-P isomerase deficiency
Disease Identifiers	MONDO ID MONDO_0012073 MESH ID C563212 UMLS CUI C1291609 OMIM ID 608611 MedGen ID 220946 Orphanet ID 440706 SNOMED CT ID 124667004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPIA	OT805SMH	Strong	Autosomal recessive	[1]
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References

1	Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. doi: 10.1086/383204. Epub 2004 Feb 25.