Sporadic infantile bilateral striatal necrosis
disease diseaseOn this page
Also known as ABSNacute bilateral striatal necrosissporadic IBSNsporadic infantile striatonigral degenerationsporadic infantile striatonigral necrosis
Summary
Sporadic infantile bilateral striatal necrosis (MONDO:0016394) is a disease. A subtype of infantile bilateral striatal necrosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 38
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
38 HPO clinical features (Orphanet curated; top 38 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030215 | Inappropriate crying | Frequent (30-79%) |
| HP:0100022 | Abnormality of movement | Frequent (30-79%) |
| HP:0000273 | Facial grimacing | Frequent (30-79%) |
| HP:0001250 | Seizure | Frequent (30-79%) |
| HP:0001260 | Dysarthria | Frequent (30-79%) |
| HP:0001328 | Specific learning disability | Frequent (30-79%) |
| HP:0002015 | Dysphagia | Frequent (30-79%) |
| HP:0002533 | Abnormal posturing | Frequent (30-79%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Frequent (30-79%) |
| HP:0008936 | Axial hypotonia | Frequent (30-79%) |
| HP:0000020 | Urinary incontinence | Occasional (5-29%) |
| HP:0000298 | Mask-like facies | Occasional (5-29%) |
| HP:0000338 | Hypomimic face | Occasional (5-29%) |
| HP:0000736 | Short attention span | Occasional (5-29%) |
| HP:0001288 | Gait disturbance | Occasional (5-29%) |
| HP:0001300 | Parkinsonism | Occasional (5-29%) |
| HP:0001332 | Dystonia | Occasional (5-29%) |
| HP:0001347 | Hyperreflexia | Occasional (5-29%) |
| HP:0002033 | Poor suck | Occasional (5-29%) |
| HP:0002066 | Gait ataxia | Occasional (5-29%) |
| HP:0002067 | Bradykinesia | Occasional (5-29%) |
| HP:0002072 | Chorea | Occasional (5-29%) |
| HP:0002300 | Mutism | Occasional (5-29%) |
| HP:0002301 | Hemiplegia | Occasional (5-29%) |
| HP:0002307 | Drooling | Occasional (5-29%) |
| HP:0002322 | Resting tremor | Occasional (5-29%) |
| HP:0002465 | Poor speech | Occasional (5-29%) |
| HP:0003487 | Babinski sign | Occasional (5-29%) |
| HP:0004372 | Reduced consciousness/confusion | Occasional (5-29%) |
| HP:0005366 | Recurrent streptococcus pneumoniae infections | Occasional (5-29%) |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | Occasional (5-29%) |
| HP:0007185 | Loss of consciousness | Occasional (5-29%) |
| HP:0007359 | Focal-onset seizure | Occasional (5-29%) |
| HP:0008947 | Floppy infant | Occasional (5-29%) |
| HP:0011151 | Obtundation status | Occasional (5-29%) |
| HP:0025439 | Pharyngitis | Occasional (5-29%) |
| HP:0030187 | Titubation | Occasional (5-29%) |
| HP:0040288 | Nasogastric tube feeding | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | sporadic infantile bilateral striatal necrosis |
| Mondo ID | MONDO:0016394 |
| Orphanet | 225147 |
| ICD-11 | 1174703901 |
| UMLS | C4087175 |
| MedGen | 1672494 |
| GARD | 0020549 |
| Is cancer (heuristic) | no |
Also known as: ABSN · acute bilateral striatal necrosis · sporadic IBSN · sporadic infantile striatonigral degeneration · sporadic infantile striatonigral necrosis
Disease family
This is a subtype of infantile bilateral striatal necrosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › neurodegenerative disease › infantile bilateral striatal necrosis › sporadic infantile bilateral striatal necrosis
Related subtypes (1): familial infantile bilateral striatal necrosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.