Huntington disease

Preferred Label : Huntington disease;

Symbol : HD;

CISMeF acronym : HD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Huntington chorea;

Description : Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CAG)n in the huntingtin gene (HTT, 613004.0001);

Prefixed ID : #143100;

Détails

Origin ID

143100;

UMLS CUI

C0020179;

DO Cross reference
- Huntington's disease [DO Concept]
Genes related to phenotype
- Huntingtin [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Chorea [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Gait ataxia [HPO term]
- Gliosis [HPO term]
- Hyperreflexia [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Personality changes [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Huntington disease [ORDO Disease]
- Juvenile Huntington disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Huntington chorea [Radlex concept]
- Huntington chorea [Disease (Nov.)]
- Huntington disease [ORDO Disease]
- Huntington's Disease [NCIt concept]
- Huntington's chorea [ICD-9 code]
- Huntington's chorea [MedDRA LLT]
- Huntington's chorea (disorder) [SNOMED CT concept]
- Huntington's disease [MedDRA Preferred Term]
- Huntington's disease [ICD-10 category]
- Huntington's disease [DO Concept]
- Huntingtons disease [ICD-10 category (who)]
- huntington disease [MeSH Descriptor]
- huntington disease [MeSH concept]
- huntington's chorea [SNOMED Notion]
- huntington's disease [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Juvenile onset Huntington's disease (disorder) [SNOMED CT concept]

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