ORPHA:683
Progressive supranuclear palsy
Synonyms: PSP syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive supranuclear palsy | PSP syndrome |
| fr | Paralysie supranucléaire progressive | Syndrome PSP |
| de | Progressive supranukleäre Blickparese | PSP-Syndrom |
| es | Parálisis supranuclear progresiva | Síndrome PSP |
| it | Paralisi sopranucleare progressiva | PSP |
| nl | Progressieve supranucleaire paralyse | PSP-syndroom · Progressieve supranucleaire verlamming |
| pt | Parésia supranuclear progressiva | Doença de Steele-Richardson-Olszewski · PSP |
| pl | Postępujące porażenie nadjądrowe | PSP |
| cs | Progresivní supranukleární obrna | Syndrom PSP |
| uk | Прогресуючий надядерний параліч | PSP-синдром |
| zh | 进行性核上性麻痹 | PSP综合征 |
| tr | İlerleyici supranüklear felç | PSP sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260540 | BTNT | validated | |
| OMIM | 601104 | BTNT | validated | |
| OMIM | 609454 | BTNT | validated | |
| OMIM | 610898 | BTNT | validated | |
| ICD-10 | G23.1 | E | specific | validated |
| ICD-11 | 8A00.10 | E | specific | validated |
| MONDO | 0019037 | E | validated | |
| MeSH | D013494 | E | validated | |
| UMLS | C0038868 | E | validated | |
| GARD | 7471 | E | validated | |
| MedDRA | 10036813 | 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 (4):
- ORPHA:98535Frontotemporal degeneration with dementia
rare neurological diseases - ORPHA:306708Frontotemporal neurodegeneration with movement disorder
rare genetic diseases; rare neurological diseases - ORPHA:276061Genetic frontotemporal degeneration with dementia
rare genetic diseases - ORPHA:98687Supranuclear eye movement disorder
rare genetic diseases; rare ophthalmic disorders
4
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MAPT | ORPHA:240071Classic progressive supranuclear palsy syndrome | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.75 / 100 000 | United Kingdom | Value and class | Validated | 21088431[PMID]_10577638[PMID]_11408338[PMID]_ORPHANET |
| Annual incidence | 1-9 / 100 000 | 0.65 / 100 000 | Worldwide | Value and class | Validated | 11487180[PMID]_9371909[PMID]_4792160[PMID]_3405368[PMID]_6333204[PMID]_3386818[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 5.26 / 100 000 | Worldwide | Value and class | Validated | 27037234[PMID]_34220661[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 14 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1.39 / 100 000 | United States | Value and class | Validated | 3386818[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.2 / 100 000 | Italy | Value and class | Validated | 9613728[PMID] |
| Point prevalence | 1-5 / 10 000 | 14 / 100 000 | Guadeloupe | Value and class | Validated | 11912113[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | Libyan Arab Jamahiriya | Value and class | Validated | 3405368[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.63 / 100 000 | United States | Value and class | Validated | 6333204[PMID]_9371909[PMID]_3386818[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | Australia | Value and class | Validated | 4792160[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
32 annotations · validated 2023-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012535 | Abnormal synaptic transmission | |
| HP:0002015 | Dysphagia | |
| HP:0002527 | Falls | |
| HP:0100710 | Impulsivity | |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0002172 | Postural instability | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0000623 | Supranuclear ophthalmoplegia | |
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0000741 | Apathy | |
| HP:0002381 | Aphasia | |
| HP:0000643 | Blepharospasm | |
| HP:0002067 | Bradykinesia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0000712 | Emotional lability | |
| HP:0002171 | Gliosis | |
| HP:0000737 | Irritability | |
| HP:0002354 | Memory impairment | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
| HP:0002321 | Vertigo | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000726 | Dementia | |
| HP:0002063 | Rigidity | |
| HP:0001337 | Tremor | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 31779824[PMID]_6847139[PMID]_25732053[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/683
- This record as JSON: /data/d/683.json