ORPHA:210571
Dystonia 16
Synonyms: DYT16 · Early-onset dystonia parkinsonism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dystonia 16 | DYT16 · Early-onset dystonia parkinsonism |
| fr | Dystonie 16 | DYT16 · Dystonie parkinsonisme précoce |
| de | Dystonie 16 | DYT16 · Dystonie-Parkinsonismus mit frühem Beginn |
| es | Distonía 16 | DYT16 · Distonía parkinsonismo de inicio precoz |
| it | Distonia 16 | DYT16 · Distonia - parkinsonismo, a esordio precoce |
| nl | Dystonie 16 | DYT16 · Vroeg optredende dystonie-parkinsonisme |
| pt | Distonia 16 | |
| pl | Dystonia 16 | Dystonia parkinsonizm o wczesnym początku · DYT16 |
| cs | Dystonie 16 | DYT16 · Dystonický parkinsonismus s časným nástupem |
| uk | Дистонія 16 | DYT16 · Паркінсонізм з дистонією на ранніх стадіях |
| zh | 肌张力障碍症16型 | 早发型肌张力障碍帕金森症 |
| tr | Distoni 16 | DYT16 · Erken başlangıçlı distoni parkinsonizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612067 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.12 | NTBT | index | validated |
| MONDO | 0012789 | E | validated | |
| MeSH | C567430 | E | validated | |
| UMLS | C2677567 | E | validated | |
| GARD | 10539 | 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:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases - ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKRA | Disease-causing germline mutation(s) in | Assessed | HGNC:9438 | ENSG00000180228 | 603424 | 2q31.2 | protein activator of interferon induced protein kinase EIF2AK2 | 18243799[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 18420150[PMID]_22842711[PMID]_25142429[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18420150[PMID]_22842711[PMID]_25142429[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.
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HPO phenotypes
15 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002451 | Limb dystonia | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002067 | Bradykinesia | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0012514 | Lower limb pain | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0001300 | Parkinsonism | |
| HP:0002174 | Postural tremor | |
| HP:0000473 | Torticollis | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0001270 | Motor delay | |
| Very rare (<4-1%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18243799[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210571
- This record as JSON: /data/d/210571.json