ORPHA:363654
X-linked parkinsonism-spasticity syndrome
Synonyms: XPDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked parkinsonism-spasticity syndrome | XPDS |
| fr | Syndrome parkinsonien et spasticité liés à l'X | = en |
| de | Parkinsonismus-Spastik-Syndrom, X-chromosomal | = en |
| es | Síndrome de parkinsonismo ligado al cromosoma X-espasticidad | = en |
| it | Sindrome da parkinsonismo spasticità legata all'X | = en |
| nl | X-gebonden parkinsonisme - spasticiteit-syndroom | = en |
| pt | Síndrome de parkinsonismo espasticidade, ligada ao cromossoma X | |
| pl | Zespół parkinsonizm - spastyczność sprzężony z chromosomem X | = en |
| cs | X-vázaný syndrom zahrnující parkinsonismus a spasticitu | = en |
| uk | Х-зчеплений синдром паркінсонізму-спастичності | = en |
| zh | X连锁痉挛性帕金森病 | = en |
| tr | X'e bağlı parkinsonizm-spastisite sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300911 | E | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| MONDO | 0010482 | E | validated | |
| UMLS | C3806722 | 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 (2):
- 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 |
|---|---|---|---|---|---|---|---|---|
| ATP6AP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18305 | ENSG00000182220 | 300556 | Xp11.4 | ATPase H+ transporting accessory protein 2 | 23595882[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 20629132[PMID]_23595882[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
14 annotations · validated 2018-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002396 | Cogwheel rigidity | |
| HP:0002322 | Resting tremor | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0007082 | Dilated third ventricle | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000298 | Mask-like facies | |
| HP:0012407 | Scissor gait | |
| HP:0001250 | Seizure | |
| HP:0002313 | Spastic paraparesis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20629132[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363654
- This record as JSON: /data/d/363654.json