ORPHA:694922
Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
Synonyms: CONDSIAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome | CONDSIAS |
| fr | Syndrome neurodégénératif-ataxie-épilepsie induit par un stress de l'enfance | = en |
| de | Stressbedingte Neurodegeneration im Kindesalter mit variabler Ataxie und Krampfanfällen | CONDSIAS · Stressinduziertes epileptisches Ataxie-Syndrom mit Beginn im Kindesalter |
| es | Síndrome de ataxia neurodegenerativa-crisis-inducidas por estrés de inicio en la infancia | = en |
| it | Sindrome atassia neurodegenerativa-crisi epilettiche indotte dallo stress ad esordio infantile | = en |
| nl | Syndroom van in de kindertijd optredende stressgeïnduceerde neurodegeneratieve ataxie - insulten | = en |
| pt | Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome | |
| pl | Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome | = en |
| cs | Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618170 | 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 (3):
- ORPHA:98098Autosomal recessive degenerative and progressive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:207028Cerebellar ataxia with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADPRS | Disease-causing germline mutation(s) in | Assessed | HGNC:21304 | ENSG00000116863 | 610624 | 1p34.3 | ADP-ribosylserine hydrolase | 30100084[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/694922
- This record as JSON: /data/d/694922.json