Ribose-5-P isomerase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ribose-5-P isomerase deficiency | |
| fr | Déficit en ribose-5-phosphate isomerase | |
| de | Ribose-5-phosphat-Isomerase-Mangel | |
| es | Deficiencia de ribosa-5-P isomerasa | |
| it | Deficit di ribosio-5-P isomerasi | |
| nl | Ribose-5-P isomerase-deficiëntie | |
| pt | Défice de ribose-5-P isomerase | |
| pl | Niedobór izomerazy rybozo-5-P | |
| cs | Deficit ribóza-5-fosfát izomerázy | |
| uk | Дефіцит рибозо-5-Р ізомерази | |
| zh | 核糖-5-磷酸异构酶缺乏症 | |
| tr | Riboz-5-P izomeraz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608611 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.0 | NTBT | attributed | validated |
| MONDO | 0012073 | E | validated | |
| MeSH | C563212 | E | validated | |
| UMLS | C1291609 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79186Disorder of pentose phosphate metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPIA | Disease-causing germline mutation(s) in | Assessed | HGNC:10297 | ENSG00000153574 | 180430 | 2p11.2 | ribose 5-phosphate isomerase A | 14988808[PMID]_20499043[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 14988808[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14988808[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440706
- This record as JSON: /data/d/440706.json