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 71 - 80 of 81 in total
Gene ID Gene Symbol Description Source
27163 NAAA N-acylethanolamine acid amidase
27306 HPGDS hematopoietic prostaglandin D synthase
51548 SIRT6 sirtuin 6
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54732 TMED9 transmembrane p24 trafficking protein 9
56848 SPHK2 sphingosine kinase 2
57704 GBA2 glucosylceramidase beta 2
64116 SLC39A8 solute carrier family 39 member 8
148738 HJV hemojuvelin BMP co-receptor
253430 IPMK inositol polyphosphate multikinase
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 1 - 10 of 53 in total
HPO ID HPO Term
HP:0000298 Mask-like facies
HP:0000496 Abnormality of eye movement
HP:0000514 Slow saccadic eye movements
HP:0000570 Abnormal saccadic eye movements
HP:0000617 Abnormality of ocular smooth pursuit
HP:0000639 Nystagmus
HP:0000708 Atypical behavior
HP:0000711 Restlessness
HP:0000716 Depression
HP:0000726 Dementia
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