ORPHA:53351
X-linked dystonia-parkinsonism
Synonyms: DYT3 · Lubag · Lubag syndrome · XDP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, X-linked recessive
- Age of onset
- Adult
- Status
- active
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked dystonia-parkinsonism | DYT3 · Lubag · Lubag syndrome · XDP |
| fr | Dystonie-parkinsonisme liée à l'X | DYT3 · Lubag · Syndrome de Lubag · XDP |
| de | Dystonie-Parkinson-Syndrom, X-chromosomales | DYT3 · Dystonie-Parkinson-Syndrom Lubag · Lubag-Syndrom · XDP |
| es | Distonía-parkinsonismo ligada al cromosoma X | DYT3 · Lubag · Síndrome de Lubag · XDP |
| it | Distonia - parkinsonismo, legato all'X | DYT3 · Lubag · Sindrome di Lubag · XDP |
| nl | X-gebonden dystonie - parkinsonisme | DYT3 · Lubag · Lubagsyndroom · XDP |
| pt | Distonia-Parkinsonismo ligado ao X | |
| pl | Dystonia sprzężona z chromosomem X-parkinsonizm | DYT3 · Lubag · XDP · Zespół Lubag |
| cs | X-vázaná dystonie a parkinsonismus | DYT3 · Lubag · Lubag syndrom · XDP |
| uk | Х-зчеплена дистонія-паркінсонізм | DYT3 · Lubag · Синдром Любага · XDP |
| zh | X连锁肌张力障碍型帕金森病 | Lubag综合征 |
| tr | X'e bağlı distoni-parkinsonizm | XDP · DYT3 · Lubag · Lubag sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314250 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A00.20 | NTBT | index | validated |
| MONDO | 0010747 | E | validated | |
| MeSH | C564048 | E | validated | |
| UMLS | C1839130 | E | validated | |
| GARD | 10533 | 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 |
|---|---|---|---|---|---|---|---|---|
| TAF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11535 | ENSG00000147133 | 313650 | Xq13.1 | TATA-box binding protein associated factor 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | 15390042[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.31 / 100 000 | Philippines | Value and class | Validated | 21047175[PMID]_20301662[PMID]_ [EXPERT] |
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
19 annotations · validated 2018-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0002067 | Bradykinesia | |
| HP:0002072 | Chorea | |
| HP:0004373 | Focal dystonia | |
| HP:0002378 | Hand tremor | |
| HP:0001336 | Myoclonus | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0002172 | Postural instability | |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | |
| HP:0002322 | Resting tremor | |
| HP:0002362 | Shuffling gait | |
| HP:0001304 | Torsion dystonia | |
| Occasional (29-5%) | ||
| HP:0011951 | Aspiration pneumonia | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0031162 | Impaired oropharyngeal swallow response | |
| HP:0006511 | Laryngeal stridor | |
| HP:0002451 | Limb dystonia | |
| HP:0010808 | Protruding tongue | |
Annotation source: 22030388[PMID]_20482602[PMID]_12928496[PMID]_941767[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53351
- This record as JSON: /data/d/53351.json