Infantile bilateral striatal necrosis
Synonyms: Infantile striatonigral degeneration · Infantile striatonigral necrosis · IBSN
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable
- Age of onset
- All ages
- Status
- active
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile bilateral striatal necrosis | Infantile striatonigral degeneration · Infantile striatonigral necrosis · IBSN |
| fr | Nécrose striatale bilatérale de l'enfant | Dégénérescence striato-nigrique de l'enfant · Dégénérescence strio-nigrique de l'enfant · Nécrose striato-nigrique de l'enfant · Nécrose strio-nigrique de l'enfant |
| de | Striatale Nekrose, infantile | Degeneration, infantile stratonigrale · IBSN |
| es | Necrosis estriatal bilateral infantil | Degeneración estriatonigral infantil · Necrosis estriatonigral infantil |
| it | Necrosi striatale bilaterale infantile | Degenerazione nigrostriatale infantile · IBSN · Necrosi nigrostriatale infantile |
| nl | Infantiele bilaterale striatale necrose | IBSN · Infantiele striatonigrale degeneratie · Infantiele striatonigrale necrose |
| pt | Necrose do estriado bilateral da infância | Degenerescência do corpo estriado familiar · Degenerescência estriato-nígrica do lactente |
| pl | Obustronna martwica prążkowia noworodków | Dziecięca martwica prążkowia i istoty czarnej · Dziecięce zwyrodnienie prążkowia i istoty czarnej · IBSN |
| cs | Infantilní bilaterální nekróza striata | IBSN · Infantilní striatonigrální degenerace · Infantilní striatonigrální nekróza |
| uk | Інфантильний двосторонній некроз стріатума | IBSN · Інфантильна стриатоніградна дегенерація · Інфантильний стриатонігральний некроз |
| zh | 婴幼儿双侧纹状体坏死 | 婴幼儿双侧纹状体变性 |
| tr | İnfantil bilateral striatal nekroz | IBSN · İnfantil striatonigral nekroz · İnfantil striatonigral dejenerasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271930 | BTNT | validated | |
| OMIM | 500003 | BTNT | validated | |
| MONDO | 0015518 | E | validated | |
| MONDO | 15518 | E | validated | |
| MeSH | C537500 | E | validated | |
| UMLS | C0795996 | E | validated | |
| GARD | 5040 | 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 (5):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
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/1576
- This record as JSON: /data/d/1576.json