Atypical juvenile parkinsonism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical juvenile parkinsonism | |
| fr | Parkinsonisme atypique juvénile | |
| de | Juveniler atypischer Parkinsonismus | Parkinson-Syndrom, atypisches juveniles |
| es | Parkinsonismo juvenil atípico | |
| it | Parkinsonismo giovanile atipico | |
| nl | Atypisch juveniel parkinsonisme | |
| pt | Parkinsonismo juvenil atípico | |
| pl | Atypowy parkinsonizm młodzieńczy | |
| cs | Atypický juvenilní parkinsonismus | |
| uk | Атиповий ювенільний паркінсонізм | |
| zh | 非典型青少年帕金森病 | |
| tr | Atipik jüvenil parkinsonizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615528 | BTNT | validated | |
| OMIM | 615530 | BTNT | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| MONDO | 0018321 | E | validated | |
| UMLS | C4510873 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:352497OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency referred to · inactive
- ORPHA:352504OBSOLETE: Levodopa-unresponsive juvenile parkinsonism referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJC6 | Disease-causing germline mutation(s) in | Assessed | HGNC:15469 | ENSG00000116675 | 608375 | 1p31.3 | DnaJ heat shock protein family (Hsp40) member C6 | 22563501[PMID]_23211418[PMID] |
| PODXL | Disease-causing germline mutation(s) in | Assessed | HGNC:9171 | ENSG00000128567 | 602632 | 7q32.3 | podocalyxin like | 26864383[PMID] |
| SYNJ1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11503 | ENSG00000159082 | 604297 | 21q22.11 | synaptojanin 1 | 23804563[PMID]_23804577[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 25085748[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.
HPO phenotypes
27 annotations · validated 2017-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0001332 | Dystonia | |
| HP:0000338 | Hypomimic face | |
| HP:0002540 | Inability to walk | |
| HP:0002172 | Postural instability | |
| HP:0002322 | Resting tremor | |
| HP:0002063 | Rigidity | |
| HP:0007164 | Slowed slurred speech | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0100022 | Abnormality of movement | |
| HP:0012638 | Abnormality of nervous system physiology | |
| HP:0002304 | Akinesia | |
| HP:0012444 | Brain atrophy | |
| HP:0012378 | Fatigue | |
| HP:0002066 | Gait ataxia | |
| HP:0001265 | Hyporeflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0004305 | Involuntary movements | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0007311 | Short stepped shuffling gait | |
| HP:0001621 | Weak voice | |
| Occasional (29-5%) | ||
| HP:0002425 | Anarthria | |
| HP:0001336 | Myoclonus | |
| HP:0002362 | Shuffling gait | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 23804577[PMID]_23211418[PMID]_22563501[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391411
- This record as JSON: /data/d/391411.json