Primary dystonia, DYT27 type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT27 type | |
| fr | Dystonie primaire type DYT27 | |
| de | Dystonie, primäre, Typ DYT27 | |
| es | Distonía primaria tipo DYT27 | |
| it | Distonia primitiva tipo DYT27 | |
| nl | Primaire dystonie, DYT27-type | |
| pt | Distonia primária, tipo DYT27 | |
| pl | Dystonia pierwotna, typ DYT27 | |
| cs | Primární dystonie, typ DYT27 | |
| uk | Первинна дистонія, тип DYT27 | |
| zh | DYT27型原发性张力障碍 | |
| tr | Primer distoni, DYT27 tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616411 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| MONDO | 0014627 | E | validated | |
| UMLS | C4225336 | 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 (1):
- ORPHA:1866Focal, segmental or multifocal dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL6A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2213 | ENSG00000163359 | 120250 | 2q37.3 | collagen type VI alpha 3 chain | 26004199[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26260724[PMID]_26004199[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26260724[PMID]_26004199[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
8 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012049 | Laryngeal dystonia | |
| HP:0012048 | Oromandibular dystonia | |
| Frequent (79-30%) | ||
| HP:0002345 | Action tremor | |
| HP:0002530 | Axial dystonia | |
| HP:0004373 | Focal dystonia | |
| HP:0002451 | Limb dystonia | |
| HP:0007351 | Upper limb postural tremor | |
| HP:0002356 | Writer's cramp | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26004199[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464440
- This record as JSON: /data/d/464440.json