ORPHA:178509
Perry syndrome
Synonyms: Parkinsonism with alveolar hypoventilation and mental depression
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perry syndrome | Parkinsonism with alveolar hypoventilation and mental depression |
| fr | Syndrome de Perry | Parkinsonisme avec hypoventilation alvéolaire et depression |
| de | Perry-Syndrom | Parkinsonismus - alveolare Hypoventilation - psychische Depression |
| es | Síndrome de Perry | Parkinsonismo con hipoventilación alveolar y depresión mental |
| it | Sindrome di Perry | Parkinsonismo con ipoventilazione alveolare e depressione mentale |
| nl | Syndroom van Perry | Parkinsonisme met alveolaire hypoventilatie en mentale depressie |
| pt | Síndrome de Perry | |
| pl | Zespół Perry'ego | Parkinsonizm z hipowentylacją pęcherzykową i depresją mentalną |
| cs | Perryho syndrom | Parkinsonismus asociovaný s alveolární hypoventilací a mentální depresí |
| uk | Синдром Перрі | Паркінсонізм з альвеолярною гіповентиляцією та психічною депресією |
| zh | Perry综合征 | 帕金森症伴肺泡通气不足和精神抑郁 |
| tr | Perry sendromu | Alveolar hipoventilasyon ve mental depresyon ile seyreden parkinsonizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168605 | E | validated | |
| ICD-10 | G23.8 | NTBT | attributed | validated |
| ICD-11 | 8A00.1Y | NTBT | index | validated |
| MONDO | 0008201 | E | validated | |
| MeSH | C566822 | E | validated | |
| UMLS | C1868594 | E | validated | |
| GARD | 10453 | E | validated | |
| MedDRA | 10079207 | 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 |
|---|---|---|---|---|---|---|---|---|
| DCTN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2711 | ENSG00000204843 | 601143 | 2p13.1 | dynactin subunit 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000741 | Apathy | |
| HP:0007110 | Central hypoventilation | |
| HP:0000716 | Depression | |
| HP:0001300 | Parkinsonism | |
| HP:0002360 | Sleep abnormality | |
| HP:0001337 | Tremor | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000726 | Dementia | |
| HP:0002615 | Hypotension | |
| HP:0000751 | Personality changes | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178509
- This record as JSON: /data/d/178509.json