Huntington's disease-like 1

Summary
Synonym
  • HDL1
  • HLN1
  • Huntington disease-like 1
  • Huntington-like neurodegenerative disorder 1
  • autosomal dominant Huntington-like neurodegenerative disorder
  • early-onset prion disease with prominent psychiatric features
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.
Super Class
prion disease
External Links
Disease Ontology
DOID:0090103
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 31 - 40 of 81 in total
Gene ID Gene Symbol Description Source
4023 LPL lipoprotein lipase
4153 MBL2 mannose binding lectin 2
4360 MRC1 mannose receptor C-type 1
4595 MUTYH mutY DNA glycosylase
4684 NCAM1 neural cell adhesion molecule 1
4860 PNP purine nucleoside phosphorylase
4907 NT5E 5'-nucleotidase ecto
4968 OGG1 8-oxoguanine DNA glycosylase
5091 PC pyruvate carboxylase
5226 PGD phosphogluconate dehydrogenase
The Human Phenotype Ontology
Displaying entries 31 - 40 of 53 in total
HPO ID HPO Term
HP:0002354 Memory impairment
HP:0002359 Frequent falls
HP:0002375 Hypokinesia
HP:0002457 Abnormal head movements
HP:0002533 Abnormal posturing
HP:0003043 Abnormal shoulder morphology
HP:0004305 Involuntary movements
HP:0006801 Hyperactive deep tendon reflexes
HP:0006961 Jerky head movements
HP:0007010 Poor fine motor coordination
Displaying 1 entry
Gene ID Gene Symbol Description
5621 PRNP prion protein (Kanno blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024