ORPHA:101
Dentatorubral pallidoluysian atrophy
Synonyms: DRPLA · Dentatorubropallidoluysian atrophy · Naito-Oyanagi disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentatorubral pallidoluysian atrophy | DRPLA · Dentatorubropallidoluysian atrophy · Naito-Oyanagi disease |
| fr | Atrophie dentato-rubro-pallido-luysienne | ADRPL · DRPLA · Maladie de Naito-Oyanagi |
| de | Atrophie, dentatorubrale-pallidolysiale | DRPLA · Naito-Oyanagi-Krankheit |
| es | Atrofia dentato-rubro-pálido-luisiana | DRPLA |
| it | Atrofia dentato-rubro-pallido-luisiana | DRPLA · Malattia di Naito-Oyanagi |
| nl | Dentatorubro-pallidoluysische atrofie | DRPLA · Ziekte van Naito-Oyanagi |
| pt | Atrofia dentato-rubro-palido-luisiana | DRPLA · Síndrome Naito-Oyanagi |
| pl | Zanik jądra zębatego, jądra czerwiennego, gałki bladej i jądra niskowzgórzowego | Choroba Naito i Oyanagi · DRplA · Zanik jądra zębatego, jądra czerwiennego, gałki bladej i jądra niskowzgórzowego |
| cs | Dentatorubropalidoluysická atrofie | DRPLA · Dentato-rubro-pallidoluysianská atrofie · Nemoc Naito-Oyanagi |
| uk | Дентаторубрал-палідолуїзійна атрофія | Атрофія зубощелепно-піднебінної ділянки · DRPLA · Хвороба Найто-Оянагі |
| zh | 齿状核红核苍白球路易体萎缩 | 齿状核红核苍白球丘脑下核萎缩 |
| tr | Dentatorubral pallidoluysian atrofisi | DRPLA · Naito-Oyanagi hastalığı · Dentatorubropallidoluysian atrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125370 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A01.12 | E | specific | validated |
| MONDO | 0007435 | E | validated | |
| UMLS | C0751781 | E | validated | |
| GARD | 5643 | E | validated | |
| MedDRA | 10075298 | 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 (2):
- ORPHA:94149Autosomal dominant cerebellar ataxia type IV
rare genetic diseases; rare neurological diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3033 | ENSG00000111676 | 607462 | 12p13.31 | atrophin 1 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.48 / 100 000 | Japan | Value and class | Validated | 18418674[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.71 / 100 000 | United Kingdom | Value and class | Not yet validated | 17965145[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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
26 annotations · validated 2018-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0002345 | Action tremor | |
| HP:0001251 | Ataxia | |
| HP:0001266 | Choreoathetosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0000726 | Dementia | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0010867 | Dyssynergia | |
| HP:0002066 | Gait ataxia | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001265 | Hyporeflexia | |
| HP:0010831 | Impaired proprioception | |
| HP:0004305 | Involuntary movements | |
| HP:0002070 | Limb ataxia | |
| HP:0001336 | Myoclonus | |
| HP:0000639 | Nystagmus | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0001138 | Optic neuropathy | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0001250 | Seizure | |
| HP:0002078 | Truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0002354 | Memory impairment | |
| HP:0012048 | Oromandibular dystonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7614090[PMID]_21827919[PMID]_21619691[PMID]_6808417[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101
- This record as JSON: /data/d/101.json