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 51 - 60 of 81 in total
Gene ID Gene Symbol Description Source
6515 SLC2A3 solute carrier family 2 member 3
6517 SLC2A4 solute carrier family 2 member 4
7108 TM7SF2 transmembrane 7 superfamily member 2
7903 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
8526 DGKE diacylglycerol kinase epsilon
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
8877 SPHK1 sphingosine kinase 1
8879 SGPL1 sphingosine-1-phosphate lyase 1
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9365 KL klotho
The Human Phenotype Ontology
Displaying entries 11 - 20 of 53 in total
HPO ID HPO Term
HP:0000746 Delusion
HP:0000750 Delayed speech and language development
HP:0001250 Seizure
HP:0001260 Dysarthria
HP:0001272 Cerebellar atrophy
HP:0001288 Gait disturbance
HP:0001290 Generalized hypotonia
HP:0001310 Dysmetria
HP:0001350 Slurred speech
HP:0001824 Weight loss
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