ORPHA:225154
Familial infantile bilateral striatal necrosis
Synonyms: Familial IBSN · Familial infantile striatonigral degeneration · Familial infantile striatonigral necrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial infantile bilateral striatal necrosis | Familial IBSN · Familial infantile striatonigral degeneration · Familial infantile striatonigral necrosis |
| fr | Nécrose striatale bilatérale de l'enfant, forme familiale | Dégénérescence striato-nigrique de l'enfant, forme familiale · Dégénérescence strio-nigrique de l'enfant, forme familiale · Nécrose striato-nigrique de l'enfant, forme familiale · Nécrose strio-nigrique de l'enfant, forme familiale |
| de | Striatale Nekrose, infantile familiäre | Familiäre IBSN · Familiäre infantile striatonigrale Degeneration · Striatonigrale Nekrose, infantile familiäre |
| es | Necrosis estriatal bilateral infantil familiar | Degeneración estriatonigral infantil familiar · IBSN familiar · Necrosis estriatonigral infantil familiar |
| it | Necrosi striatale bilaterale infantile familiare | Degenerazione nigrostriatale infantile familiare · IBSN familiare · Necrosi nigrostriatale infantile familiare |
| nl | Familiale infantiele bilaterale striatale necrose | Familiale IBSN · Familiale infantiele striatonigrale degeneratie · Familiale infantiele striatonigrale necrose |
| pt | Necrose do estriado bilateral da infância familiar | |
| pl | Rodzinna dzięcięca obustronna martwica prążkowia | Rodzinna dziecięca martwica nigrostriatialna · Rodzinna IBSN · Rodzinne dziecięce zwyrodnienie nigrostriatialne |
| cs | Familiární infantilní bilaterální nekróza striata | Familiární IBSN · Familiární infantilní striatonigrální degenerace · Familiární infantilní striatonigrální nekróza |
| uk | Сімейний інфантильний двосторонній некроз стріатуму | Сімейний IBSN · Сімейна дитяча стриатоніградна дегенерація · Сімейний інфантильний стриатонігральний некроз |
| zh | 家族性婴幼儿双侧纹状体坏死 | 家族性婴幼儿黑质纹状体坏死 |
| tr | Ailesel infantil bilateral striatal nekroz | Ailesel IBSN · Ailesel infantil striatonigral nekroz · Ailesel infantil striatonigral dejenerasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271930 | E | validated | |
| OMIM | 500003 | BTNT | validated | |
| OMIM | 620427 | BTNT | validated | |
| ICD-10 | G23.2 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010080 | E | validated | |
| UMLS | C4087174 | E | validated | |
| MedDRA | 10077450 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1576Infantile bilateral striatal necrosis
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1575OBSOLETE: Infantile striatothalamic degeneration referred to · inactive
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:225 | ENSG00000160710 | 146920 | 1q21.3 | adenosine deaminase RNA specific | 24262145[PMID] |
| MT-ATP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7414 | ENSG00000198899 | 516060 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 6 | |
| NUP54 | Disease-causing germline mutation(s) in | Assessed | HGNC:17359 | ENSG00000138750 | 607607 | 4q21.1 | nucleoporin 54 | 36333996[PMID] |
| NUP62 | Disease-causing germline mutation(s) in | Assessed | HGNC:8066 | ENSG00000213024 | 605815 | 19q13.33 | nucleoporin 62 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 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.
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HPO phenotypes
36 annotations · validated 2019-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | |
| HP:0003487 | Babinski sign | |
| HP:0006999 | Basal ganglia gliosis | |
| HP:0001266 | Choreoathetosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0007811 | Horizontal pendular nystagmus | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000648 | Optic atrophy | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0001257 | Spasticity | |
| HP:0002273 | Tetraparesis | |
| Occasional (29-5%) | ||
| HP:0002446 | Astrocytosis | |
| HP:0006799 | Basal ganglia cysts | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0002359 | Frequent falls | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001276 | Hypertonia | |
| HP:0002505 | Loss of ambulation | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001336 | Myoclonus | |
| HP:0002063 | Rigidity | |
| HP:0012697 | Small basal ganglia | |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram | |
| HP:0003484 | Upper limb muscle weakness | |
Annotation source: 8734018[PMID]_16786527[PMID]_23334465[PMID]_29510394[PMID]_8554662[PMID)_12374138[PMID]_14718703[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/225154
- This record as JSON: /data/d/225154.json