Progressive polyneuropathy with bilateral striatal necrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive polyneuropathy with bilateral striatal necrosis | |
| fr | Polyneuropathie progressive avec nécrose striatale bilatérale | |
| de | Polyneuropathie, progressive, mit bilateraler striataler Nekrose | |
| es | Polineuropatía progresiva con necrosis estriatal bilateral | |
| it | Polineuropatia progressiva con necrosi striatale bilaterale | |
| nl | Progressieve polyneuropathie met bilaterale striatale necrose | |
| pt | Polineuropatia progressiva com necrose do estriado bilateral | |
| pl | Postępująca demielinizująca neuropatia z obustronną martwicą prążkowia | |
| cs | Progresivní demyelinizační neuropatie s bilaterální nekrózou striata | |
| uk | Прогресуюча полінейропатія з двостороннім некрозом стріатуму | |
| zh | 进行性多发性神经病伴双边纹状体坏死 | |
| tr | Bilateral striatal nekroz ile seyreden ilerleyici polinöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613710 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5B5A.Y | NTBT | attributed | validated |
| MONDO | 0013382 | E | validated | |
| MONDO | 13382 | E | validated | |
| UMLS | C3150973 | 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 (2):
- ORPHA:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| SLC25A19 | Disease-causing germline mutation(s) in | Assessed | HGNC:14409 | ENSG00000125454 | 606521 | 17q25.1 | solute carrier family 25 member 19 | 19798730[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19798730[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19798730[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/217396
- This record as JSON: /data/d/217396.json