Huntington's disease-like 1

Term ID

DOID:0090103

Synonyms

• autosomal dominant Huntington-like neurodegenerative disorder
• early-onset prion disease with prominent psychiatric features
• HDL1
• HLN1
• Huntington disease-like 1
• Huntington-like neurodegenerative disorder 1

Definition

A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. (2)

References

• ICD10CM:G10
• OMIM:603218
• ORDO:157941

Ontology

Human Disease   ( DOID:0090103 )