ORPHA:2828
Young-onset Parkinson disease
Synonyms: Early-onset Parkinson disease · YOPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Young-onset Parkinson disease | Early-onset Parkinson disease · YOPD |
| fr | Maladie de Parkinson à début précoce | Maladie de Parkinson précoce · YOPD |
| de | Parkinson-Syndrom, früh-adultes | Früh beginnende Parkinson-Krankheit · Früh-adulte Form des Parkinson-Syndroms · YOPD |
| es | Enfermedad de Parkinson de inicio juvenil | Enfermedad de Parkinson de inicio precoz · YOPD |
| it | Malattia di Parkinson ad esordio giovanile | Malattia di Parkinson a esordio giovanile · Malattia di Parkinson a esordio precoce |
| nl | Ziekte van Parkinson met aanvang op jonge leeftijd | YOPD · Ziekte van Parkinson met vroege aanvang |
| pt | Doença de Parkinson de início juvenil | |
| pl | Parkinsonizm młodych dorosłych | Choroba Parkinsona o wczesnym początku · Młodzieńcza choroba Parkinsona |
| cs | Parkinsonova choroba s časným nástupem | YOPD · Parkinsonova choroba s časným začátkem |
| uk | Хвороба Паркінсона з раннім початком | Хвороба Паркінсона з раннім початком · YOPD |
| zh | 青年发病型帕金森病 | 早发帕金森病 |
| tr | Genç başlangıçlı Parkinson hastalığı | YOPD · Erken başlangıçlı Parkinson hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300557 | BTNT | validated | |
| OMIM | 600116 | BTNT | validated | |
| OMIM | 602404 | BTNT | validated | |
| OMIM | 605909 | BTNT | validated | |
| OMIM | 606324 | BTNT | validated | |
| OMIM | 606852 | BTNT | validated | |
| OMIM | 610297 | BTNT | validated | |
| OMIM | 613643 | BTNT | validated | |
| OMIM | 615528 | NTBT | validated | |
| OMIM | 616840 | BTNT | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| ICD-11 | 8A00.00 | NTBT | index | validated |
| MONDO | 0017279 | E | validated | |
| UMLS | C4275179 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:448426Genetic primary orthostatic hypotension
rare genetic diseases - ORPHA:182058Primary orthostatic hypotension
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.
4
Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HTRA2 | Candidate gene tested in | Not yet assessed | HGNC:14348 | ENSG00000115317 | 606441 | 2p13.1 | HtrA serine peptidase 2 | 21701785[PMID] |
| LRRK2 | Candidate gene tested in | Not yet assessed | HGNC:18618 | ENSG00000188906 | 609007 | 12q12 | leucine rich repeat kinase 2 | 22166458[PMID] |
| SNCA | Candidate gene tested in | Not yet assessed | HGNC:11138 | ENSG00000145335 | 163890 | 4q22.1 | synuclein alpha | 17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID] |
| UCHL1 | Candidate gene tested in | Not yet assessed | HGNC:12513 | ENSG00000154277 | 191342 | 4p13 | ubiquitin C-terminal hydrolase L1 | |
| DNAJC6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15469 | ENSG00000116675 | 608375 | 1p31.3 | DnaJ heat shock protein family (Hsp40) member C6 | 26528954[PMID] |
| PODXL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9171 | ENSG00000128567 | 602632 | 7q32.3 | podocalyxin like | 26864383[PMID] |
| VPS13C | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23594 | ENSG00000129003 | 608879 | 15q22.2 | vacuolar protein sorting 13 homolog C | 26942284[PMID] |
| PARK7 | Disease-causing germline mutation(s) in | Assessed | HGNC:16369 | ENSG00000116288 | 602533 | 1p36.23 | Parkinsonism associated deglycase | 22166458[PMID] |
| PINK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14581 | ENSG00000158828 | 608309 | 1p36.12 | PTEN induced kinase 1 | 22166458[PMID] |
| PRKN | Disease-causing germline mutation(s) in | Assessed | HGNC:8607 | ENSG00000185345 | 602544 | 6q26 | parkin RBR E3 ubiquitin protein ligase | 22166458[PMID] |
| SYNJ1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11503 | ENSG00000159082 | 604297 | 21q22.11 | synaptojanin 1 | 23804577[PMID]_23804563[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | Europe | Value and class | Validated | ORPHANET_23083512[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Not yet validated | 15172778[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.
6
HPO phenotypes
34 annotations · validated 2019-08-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002063 | Rigidity | |
| Frequent (79-30%) | ||
| HP:0000741 | Apathy | |
| HP:0000716 | Depression | |
| HP:0100660 | Dyskinesia | |
| HP:0000738 | Hallucinations | |
| HP:0002172 | Postural instability | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0000739 | Anxiety | |
| HP:0002067 | Bradykinesia | |
| HP:0100543 | Cognitive impairment | |
| HP:0000551 | Color vision defect | |
| HP:0002019 | Constipation | |
| HP:0000726 | Dementia | |
| HP:0002014 | Diarrhea | |
| HP:0001332 | Dystonia | |
| HP:0030014 | Female sexual dysfunction | |
| HP:0002141 | Gait imbalance | |
| HP:0002578 | Gastroparesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0004409 | Hyposmia | |
| HP:0100785 | Insomnia | |
| HP:0040307 | Male sexual dysfunction | |
| HP:0003394 | Muscle spasm | |
| HP:0002018 | Nausea | |
| HP:0025269 | Panic attack | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0012452 | Restless legs | |
| HP:0000736 | Short attention span | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0000713 | Agitation | |
| HP:0000651 | Diplopia | |
| HP:0000727 | Frontal lobe dementia | |
| HP:0100710 | Impulsivity | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24631501[PMID]_25744440[PMID]_31176633[PMID]_20301792[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2828
- This record as JSON: /data/d/2828.json