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 41 - 50 of 53 in total
HPO ID HPO Term
HP:0008003 Jerky ocular pursuit movements
HP:0011446 Abnormality of mental function
HP:0100543 Cognitive impairment
HP:0000751 Personality changes
HP:0006999 Basal ganglia gliosis
HP:0000718 Aggressive behavior
HP:0000739 Anxiety
HP:0100754 Mania
HP:0000006 Autosomal dominant inheritance
HP:0002063 Rigidity
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