Dentatorubral-Pallidoluysian Atrophy

Preferred Label : Dentatorubral-Pallidoluysian Atrophy;

NCIt synonyms : DRPLA; Dentatorubropallidoluysian Atrophy;

NCIt definition : A rare, autosomal dominant inherited progressive neurodegenerative disorder. It is caused by a mutation in the ATN1 gene, resulting in a combined degeneration of the dentatorubral and pallidoluysian systems. It can appear at any age, but it usually affects individuals between 20 and 30 years and leads to death within 10-15 years. The clinical presentation depends on the age of the affected individual; juvenile patients develop severe progressive myoclonus epilepsy and cognitive decline, whereas adult patients develop ataxia, choreoathetosis and dementia.;

Details

Origin ID

C122653;

UMLS CUI

C0751781;

Automatic exact mappings (from CISMeF team)
- Atrophin 1 [OMIM gene]
Currated CISMeF NLP mapping
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Dentatorubral-Pallidoluysian atrophy [MeSH concept]
- Dentatorubral-pallidoluysian atrophy [MedDRA Preferred Term]
- Dentatorubral-pallidoluysian atrophy [OMIM Phenotype]
- Dentatorubral-pallidoluysian atrophy (disorder) [Inactive SNOMED CT concept]
- Dentatorubropallidoluysian atrophy [PASCAL descriptor]
- Dentatorubropallidoluysian degeneration (disorder) [SNOMED CT concept]
- dentatorubral pallidoluysian atrophy [Disease (Nov.)]
- dentatorubral-pallidoluysian atrophy [DO Concept]
- dentatorubropallidoluysian degeneration [SNOMED Notion]
DO Cross reference
- dentatorubral-pallidoluysian atrophy [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- atrophin 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Dentatorubral-Pallidoluysian atrophy [MeSH concept]
- Dentatorubral-pallidoluysian atrophy [OMIM Phenotype]
- Dentatorubral-pallidoluysian atrophy [MedDRA Preferred Term]
- Dentatorubropallidoluysian atrophy [PASCAL descriptor]
- Dentatorubropallidoluysian degeneration (disorder) [SNOMED CT concept]
- dentatorubral pallidoluysian atrophy [Disease (Nov.)]
- dentatorubral-pallidoluysian atrophy [DO Concept]
- dentatorubropallidoluysian degeneration [SNOMED Notion]
Validated automatic mappings to NTBT
- myoclonic epilepsies, progressive [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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