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 1 - 10 of 81 in total
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
43 ACHE acetylcholinesterase (Yt blood group)
48 ACO1 aconitase 1
50 ACO2 aconitase 2
142 PARP1 poly(ADP-ribose) polymerase 1
240 ALOX5 arachidonate 5-lipoxygenase
248 ALPI alkaline phosphatase, intestinal
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
412 STS steroid sulfatase
Related Glycoprotein
Displaying entry 61 - 61 of 61 in total
UniProt ID Protein Name Source
Q9Y6A2 Cholesterol 24-hydroxylase
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