Parkinsonian-pyramidal syndrome
Synonyms: Pallidopyramidal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parkinsonian-pyramidal syndrome | Pallidopyramidal syndrome |
| fr | Syndrome parkinsonien-pyramidal | Syndrome pallido-pyramidal |
| de | Parkinson-pyramidales Syndrom | Pallido-pyramidales Syndrom |
| es | Síndrome parkinsoniano piramidal | Síndrome palidopiramidal |
| it | Sindrome parkinsoniana piramidale | Sindrome pallido-piramidale |
| nl | Parkinson-piramidaal syndroom | Pallidopiramidaal syndroom |
| pt | Síndrome parkinsoniano-piramidal | |
| pl | Zespół parkinsonowsko-piramidowy | Zespół palidopiramidalny |
| cs | Parkinsonicko-pyramidální syndrom | Palido-pyramidální syndrom |
| uk | Паркінсонічно-пірамідний синдром | Палідопірамідний синдром |
| zh | 帕金森-锥体综合征 | 苍白球椎体综合征 |
| tr | Parkinson-piramidal sendrom | Pallidopiramidal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168100 | BTNT | validated | |
| OMIM | 168601 | NTBT | validated | |
| OMIM | 260300 | E | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| ICD-11 | 8A00.1Y | NTBT | index | validated |
| MONDO | 0009830 | E | validated | |
| MeSH | C538104 | E | validated | |
| UMLS | C1850100 | E | validated | |
| GARD | 9175 | 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.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBXO7 | Disease-causing germline mutation(s) in | Assessed | HGNC:13586 | ENSG00000100225 | 605648 | 22q12.3 | F-box protein 7 | 19038853[PMID] |
| SNCA | Disease-causing germline mutation(s) in | Assessed | HGNC:11138 | ENSG00000145335 | 163890 | 4q22.1 | synuclein alpha | 23526723[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
25 annotations · validated 2018-06-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001300 | Parkinsonism | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0100543 | Cognitive impairment | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000338 | Hypomimic face | |
| HP:0002080 | Intention tremor | |
| HP:0031435 | Monotonic speech | |
| HP:0001336 | Myoclonus | |
| HP:0000011 | Neurogenic bladder | |
| HP:0002172 | Postural instability | |
| HP:0002063 | Rigidity | |
| HP:0002362 | Shuffling gait | |
| HP:0002360 | Sleep abnormality | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0001257 | Spasticity | |
| HP:0011960 | Substantia nigra gliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002367 | Visual hallucinations | |
| Occasional (29-5%) | ||
| HP:0000726 | Dementia | |
| HP:0100315 | Lewy bodies | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 11261505[PMID]_18513678[PMID]_942621[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171695
- This record as JSON: /data/d/171695.json