ORPHA:306734
Primary dystonia, DYT21 type
Synonyms: DYT21
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT21 type | DYT21 |
| fr | Dystonie primaire type DYT21 | = en |
| de | Dystonie, primäre, Typ DYT21 | = en |
| es | Distonía primaria tipo DYT21 | |
| it | Distonia primitiva, tipo DYT21 | = en |
| nl | Primaire dystonie, DYT21-type | = en |
| pt | Distonia primária, tipo DYT21 | |
| pl | Dystonia pierwotna, typ DYT21 | = en |
| cs | Primární dystonie, typ DYT21 | = en |
| uk | Первинна дистонія, тип DYT21 | = en |
| zh | 原发性肌张力障碍DYT21型 | DYT21型 |
| tr | Primer distoni, DYT21 tipi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614588 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| MONDO | 0013813 | E | validated | |
| UMLS | C3281236 | 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:376724Generalized isolated dystonia
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 |
|---|---|---|---|---|---|---|---|---|
| DYT21 | Disease-causing germline mutation(s) in | Assessed | HGNC:39436 | 2q14.3-q21.3 | dystonia 21, torsion (autosomal dominant) | 21301909[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 21301909[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21301909[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
9 annotations · validated 2018-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001332 | Dystonia | |
| Frequent (79-30%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0004373 | Focal dystonia | |
| HP:0007325 | Generalized dystonia | |
| HP:0002268 | Paroxysmal dystonia | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0002530 | Axial dystonia | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0002451 | Limb dystonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21301909[PMID]_3400518[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306734
- This record as JSON: /data/d/306734.json