Details of Disease | DrugMAP

General Information of Disease (ID: DIS82Q7U)

Disease Name	Huntington disease-like 1
Synonyms	Huntington's disease-like 1; prion disease, early-onset, with prominent psychiatric features; Huntington-like neurodegenerative disorder, autosomal dominant; Huntington disease-like 1; early-onset prion disease with prominent psychiatric features; HLN1; Huntington-like neurodegenerative disorder 1; PRNP neurodegenerative disease with chorea; HDL1; Huntington disease-like type 1; autosomal dominant Huntington-like neurodegenerative disorder; neurodegenerative disease with chorea caused by mutation in PRNP
Definition	Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.
Disease Hierarchy	DISPN7D2: Inherited neurodegenerative disorder DISOUMB0: Prion disease DIS82Q7U: Huntington disease-like 1
Disease Identifiers	MONDO ID MONDO_0011299 MESH ID C566398 UMLS CUI C1864112 OMIM ID 603218 MedGen ID 355137 Orphanet ID 157941 SNOMED CT ID 784371009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRNP	TTY5F9C	Strong	CausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRNP	OTE85L1Q	Strong	Autosomal dominant	[2]
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References

1	Quantifying prion disease penetrance using large population control cohorts.Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.