ORPHA:411602
Hereditary late-onset Parkinson disease
Synonyms: Autosomal dominant late-onset Parkinson disease · LOPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary late-onset Parkinson disease | Autosomal dominant late-onset Parkinson disease · LOPD |
| fr | Maladie de Parkinson héréditaire à début tardif | LOPD · Maladie de Parkinson autosomal dominant à début tardif |
| de | Hereditäre Parkinson-Krankheit mit spätem Beginn | Autosomal-dominante spät-beginnende Parkinson-Krankheit · LOPD |
| es | Enfermedad de Parkinson hereditaria de inicio tardío | Enfermedad de Parkinson de inicio tardío autosómica dominante · LOPD |
| it | Malattia ereditaria di Parkison a esordio tardivo | LOPD · Malattia di Parkinson a esordio tardivo autosomica dominante |
| nl | Erfelijke ziekte van Parkinson met late aanvang | Autosomaal dominante ziekte van Parkinson met late aanvang · LOPD |
| pt | Doença de Parkinson hereditária com início tardio | |
| pl | Dziedziczna choroba Parkinsona o późnym początku | Autosomalna dominująca choroba Parkinsona o późnym początku · LOPD |
| cs | Hereditární Parkinsonova nemoc s pozdním nástupem | LOPD · Autozomálně dominantní Parkinsonova choroba s pozdním nástupem |
| uk | Спадкова хвороба Паркінсона з пізнім початком | Аутосомно-домінантна хвороба Паркінсона з пізнім початком · LOPD |
| zh | 遗传性迟发帕金森病 | 常染色体显性遗传晚期起病帕金森病 |
| tr | Kalıtsal geç başlangıçlı Parkinson hastalığı | LOPD · Otozomal dominant geç başlangıçlı Parkinson hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168601 | BTNT | validated | |
| OMIM | 605543 | BTNT | validated | |
| OMIM | 607060 | BTNT | validated | |
| OMIM | 607688 | BTNT | validated | |
| OMIM | 614203 | BTNT | validated | |
| OMIM | 614251 | BTNT | validated | |
| OMIM | 616361 | BTNT | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| MONDO | 0008199 | E | validated | |
| MONDO | 8199 | E | validated | |
| UMLS | C4274355 | 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 (6):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:448426Genetic primary orthostatic hypotension
rare genetic diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological 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.
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Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EIF4G1 | Candidate gene tested in | Not yet assessed | HGNC:3296 | ENSG00000114867 | 600495 | 3q27.1 | eukaryotic translation initiation factor 4 gamma 1 | |
| GIGYF2 | Candidate gene tested in | Not yet assessed | HGNC:11960 | ENSG00000204120 | 612003 | 2q37.1 | GRB10 interacting GYF protein 2 | |
| DNAJC13 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:30343 | ENSG00000138246 | 614334 | 3q22.1 | DnaJ heat shock protein family (Hsp40) member C13 | 24218364[PMID] |
| LRRK2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18618 | ENSG00000188906 | 609007 | 12q12 | leucine rich repeat kinase 2 | 22166458[PMID] |
| SNCA | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11138 | ENSG00000145335 | 163890 | 4q22.1 | synuclein alpha | 17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]_17489854[PMID]_18704525[PMID] |
| VPS35 | Disease-causing germline mutation(s) in | Assessed | HGNC:13487 | ENSG00000069329 | 601501 | 16q11.2 | VPS35 retromer complex component | 22166458[PMID] |
| GBA1 | Major susceptibility factor in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 18987351[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
34 annotations · validated 2018-06-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001300 | Parkinsonism | |
| Frequent (79-30%) | ||
| HP:0002304 | Akinesia | |
| HP:0012450 | Chronic constipation | |
| HP:0000651 | Diplopia | |
| HP:0002015 | Dysphagia | |
| HP:0002359 | Frequent falls | |
| HP:0004409 | Hyposmia | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0002322 | Resting tremor | |
| HP:0005340 | Spastic/hyperactive bladder | |
| Occasional (29-5%) | ||
| HP:0000713 | Agitation | |
| HP:0000741 | Apathy | |
| HP:0002067 | Bradykinesia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000716 | Depression | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0002171 | Gliosis | |
| HP:0000338 | Hypomimic face | |
| HP:0100710 | Impulsivity | |
| HP:0100315 | Lewy bodies | |
| HP:0000744 | Low frustration tolerance | |
| HP:0001268 | Mental deterioration | |
| HP:0031435 | Monotonic speech | |
| HP:0003394 | Muscle spasm | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0002172 | Postural instability | |
| HP:0002063 | Rigidity | |
| HP:0002362 | Shuffling gait | |
| HP:0002360 | Sleep abnormality | |
| HP:0002367 | Visual hallucinations | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0000726 | Dementia | |
| HP:0100753 | Schizophrenia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 19524782[PMID]_17251522[PMID]_19632874[PMID]_15541308[PMID]_20457952[PMID]_22801713[PMID]_18342564[PMID]_21907011[PMID]_24218364[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411602
- This record as JSON: /data/d/411602.json