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
The Human Phenotype Ontology
Displaying entries 21 - 30 of 53 in total
HPO ID HPO Term
HP:0002066 Gait ataxia
HP:0002067 Bradykinesia
HP:0002072 Chorea
HP:0002119 Ventriculomegaly
HP:0002120 Cerebral cortical atrophy
HP:0002134 Abnormal basal ganglia morphology
HP:0002171 Gliosis
HP:0002311 Incoordination
HP:0002312 Clumsiness
HP:0002353 EEG abnormality
Displaying 1 entry
Gene ID Gene Symbol Description
5621 PRNP prion protein (Kanno blood group)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024