ORPHA:199351
PLA2G6-related neurodegeneration, adult-onset
Synonyms: Dystonia-parkinsonism, Paisan-Ruiz type · PARK14 · PLA2G6-related dystonia-parkinsonism · PLA2G6-associated neurodegeneration, adult-onset · Adult-onset dystonia-parkinsonism · Adult PLAN · Adult phospholipase A2-associated neurodegeneration
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLA2G6-related neurodegeneration, adult-onset | Dystonia-parkinsonism, Paisan-Ruiz type · PARK14 · PLA2G6-related dystonia-parkinsonism · PLA2G6-associated neurodegeneration, adult-onset · Adult-onset dystonia-parkinsonism · Adult PLAN · Adult phospholipase A2-associated neurodegeneration |
| fr | Neurodégénérescence de l'adulte associée à PLA2G6 | Dystonie-parkinsonisme associées à PLA2G6 · Dystonie-parkinsonisme type Paisan-Ruiz · PARK14 · Dystonie-parkinsonisme de l'adulte · Neurodégénérescence de l'adulte associée à la phospholipase A2 |
| de | PLA2G6-assoziierte Neurodegeneration, adulte Form | Adulte PLAN · Dystonie-Parkinsonismus mit Beginn im Erwachsenenalter · Dystonie-Parkinson-Syndrom Typ Paisan-Ruiz · PARK14 · PLA2G6-abhängiger-Dystonie-Parkinsonismus · Phospholipase A2-assoziierte Neurodegeneration mit Beginn im Erwachsenenalter |
| es | Neurodegeneración asociada al gen PLA2G6 de inicio en el adulto | PLAN en el adulto · Neurodegeneración asociada a la fosfolipasa A2 en el adulto · Distonía-parkinsonismo tipo Paisan-Ruiz · PARK14 · Distonía-parkinsonismo de inicio en el adulto · Distonía-parkinsonismo asociados al gen PLA2G6 |
| it | Neurodegenerazione correlata a PLA2G6 ad esordio nell'età adulta | Distonia-parkinsonismo PLA2G6-correlato · PLAN dell'adulto · Distonia-parkinsonismo a esordio nell'età adulta · PARK14 · Distonia-parkinsonismo, tipo Paisan-Ruiz · Neurodegenerazione associata a PLA2G6 ad esordio nell'età adulta · Neurodegenerazione associata alla fosfolipasi A2 nell'adulto |
| nl | PLA2G6-gerelateerde neurodegeneratie, volwassen aanvang | PLA2G6-geassocieerde neurodegeneratie beginnend op volwassen leeftijd · Dystonie-parkinsonisme beginnend op volwassen leeftijd · PLAN bij volwassene · Neurodegeneratie geassocieerd met fosfolipase A2 bij volwassene · Dystonie-parkinsonisme, Paisan-Ruiz-type · PARK14 · PLA2G6-gerelateerde dystonie-parkinsonisme |
| pt | Distonia-parkinsonismo de início no adulto | Distonia-parkinsonismo tipo Paisan-Ruiz |
| pl | Dystonia-parkinsonizm o początku w wieku dorosłym | Dystonia-parkinsonizm związana z plA2G6 · Dystonia-parkinsonizm, typ Paisana i Ruiza · PARK14 |
| cs | Dystonie a parkinsonismus s nástupem v dospělosti | Dystonie a parkinsonismus, Paisan-Ruizové typ · PARK14 · Dystonie a parkinsonismus související s PLA2G6 |
| uk | Дистонія-паркінсонізм у дорослих | Дистонія-паркінсонізм, тип Пайсан-Руїса · PARK14 · Дистонія-паркінсонізм, повязана з PLA2G6 |
| zh | 成人发病的肌张力障碍-帕金森综合征 | Paisan-Ruiz型肌张力障碍-帕金森症 |
| tr | Yetişkin başlangıçlı distoni-parkinsonizm | PARK14 · PLA2G6-ilişkili distoni-parkinsonizm · Distoni-parkinsonizm, Paisan-Ruiz tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612953 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A00.1Y | NTBT | index | validated |
| MONDO | 0013060 | E | validated | |
| MeSH | C567844 | E | validated | |
| UMLS | C2751842 | E | validated | |
| GARD | 12568 | 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:329303PLA2G6-related neurodegeneration
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLA2G6 | Disease-causing germline mutation(s) in | Assessed | HGNC:9039 | ENSG00000184381 | 603604 | 22q13.1 | phospholipase A2 group VI |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 18570303[PMID]_20938027[PMID] | |
| 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
32 annotations · validated 2018-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0002067 | Bradykinesia | |
| HP:0002312 | Clumsiness | |
| HP:0001260 | Dysarthria | |
| HP:0010522 | Dyslexia | |
| HP:0002015 | Dysphagia | |
| HP:0000658 | Eyelid apraxia | |
| HP:0004373 | Focal dystonia | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000571 | Hypometric saccades | |
| HP:0000338 | Hypomimic face | |
| HP:0002185 | Neurofibrillary tangles | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0002172 | Postural instability | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| HP:0025262 | Stiff hip | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000746 | Delusion | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0001263 | Global developmental delay | |
| HP:0012675 | Iron accumulation in brain | |
| HP:0001336 | Myoclonus | |
| HP:0011999 | Paranoia | |
| HP:0000751 | Personality changes | |
| HP:0001250 | Seizure | |
| HP:0000605 | Supranuclear gaze palsy | |
Annotation source: 26196026[PMID]_20619503[PMID]_20938027[PMID]_21700586[PMID]_22030388[PMID]_20482602[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199351
- This record as JSON: /data/d/199351.json