Dentatorubral-pallidoluysian atrophy

Preferred Label : Dentatorubral-pallidoluysian atrophy;

Symbol : DRPLA;

CISMeF acronym : DRPLA; HRS; NOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ataxia, chorea, seizures, and dementia; NOD; Myoclonic epilepsy with choreoathetosis; Naito-oyanagi disease; HRS; Haw river syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by trinucleotide repeat expansion (CAG)n in the DRPLA gene (DRPLA, 607462.0001);

Prefixed ID : #125370;

Details

Origin ID

125370;

UMLS CUI

C0751781;

Automatic exact mappings (from CISMeF team)
- HARS1 wt Allele [NCIt concept]
- HGS wt Allele [NCIt concept]
- Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate [NCIt concept]
- High risk of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Hour [NCIt concept]
- NOD Mouse [NCIt concept]
- hepatorenal syndrome [MeSH Descriptor]
- hour (qualifier value) [SNOMED CT concept]
- myoclonic epilepsies, progressive [MeSH Descriptor]
- plant-type hypersensitive response [GO term]
Currated CISMeF NLP mapping
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Dentatorubral-Pallidoluysian Atrophy [NCIt concept]
- Dentatorubral-Pallidoluysian atrophy [MeSH concept]
- Dentatorubral-pallidoluysian atrophy [MedDRA Preferred Term]
- Dentatorubral-pallidoluysian atrophy (disorder) [Inactive SNOMED CT concept]
- Dentatorubropallidoluysian atrophy [PASCAL descriptor]
- Dentatorubropallidoluysian degeneration (disorder) [SNOMED CT concept]
- Myoclonic epilepsy with choreoathetosis [MeSH concept]
- dentatorubral pallidoluysian atrophy [Disease (Nov.)]
- dentatorubral-pallidoluysian atrophy [DO Concept]
- dentatorubropallidoluysian degeneration [SNOMED Notion]
- myoclonic epilepsy with choreoathetosis [MeSH Supplementary Concept]
DO Cross reference
- dentatorubral-pallidoluysian atrophy [DO Concept]
False automatic mappings
- Croatia [NCIt concept]
Genes related to phenotype
- Atrophin 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Atrophy of the dentate nucleus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chorea [HPO term]
- Choreoathetosis [HPO term]
- Dementia [HPO term]
- Fetal cystic hygroma [HPO term]
- Genetic anticipation [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Dentatorubral-Pallidoluysian Atrophy [NCIt concept]
- Dentatorubral-Pallidoluysian atrophy [MeSH concept]
- 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]

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