Childhood-onset benign chorea with striatal involvement
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset benign chorea with striatal involvement | |
| fr | Syndrome de chorée bénigne avec atteinte striatale | |
| de | Im Kindesalter beginnende benigne Chorea mit striataler Beteiligung | |
| es | Corea benigna de inicio en la infancia con afectación estriatal | |
| it | Corea benigna ad esordio infantile con interessamento dello striato | |
| nl | Goedaardige chorea - striatale betrokkenheid-syndroom met aanvang in de kindertijd | |
| pt | Coréia benigna com início na infância com envolvimento do estriado | |
| pl | Łagodna pląsawica z zajęciem prążkowia o początku w dzieciństwie | |
| cs | Syndrom zahrnující dětskou benigní choreu a postižená striata | |
| uk | Підліткова доброякісна хорея із залученням смугастого тіла | |
| zh | 儿童期良性舞蹈症伴纹状体受累 | |
| tr | Çocukluk çağı başlangıçlı striatal tutulumu olan selim kore |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616922 | E | validated | |
| ICD-10 | G25.5 | NTBT | attributed | not yet validated |
| MONDO | 0044332 | E | validated | |
| UMLS | C5567463 | 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:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:306719Neurodegenerative disease with chorea
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE10A | Disease-causing germline mutation(s) in | Assessed | HGNC:8772 | ENSG00000112541 | 610652 | 6q27 | phosphodiesterase 10A | 27058446[PMID]_27058447[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27058447[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27058447[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
7 annotations · validated 2018-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002072 | Chorea | |
| Frequent (79-30%) | ||
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0031206 | Striatal T2 hyperintensity | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| Excluded (0%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0000726 | Dementia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27058447[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494541
- This record as JSON: /data/d/494541.json