Details of Disease

General Information of Disease (ID: DISM3G09)

Disease Name Huntington disease-like 2
Synonyms Huntington's disease-like 2; Huntington disease-like 2; HDL2; Huntington disease-like type 2
Definition
Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Disease Hierarchy
DISUSDSN: Neuroacanthocytosis
DISM3G09: Huntington disease-like 2
Disease Identifiers
MONDO ID
MONDO_0011671
UMLS CUI
C1847987
OMIM ID
606438
MedGen ID
341120
Orphanet ID
98934
SNOMED CT ID
721228006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJC2 TTPOCAL Strong Biomarker [1]
MBNL2 TTH9OLG Strong Biomarker [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PPP2R2B OTSFVC82 Limited Genetic Variation [3]
PANK2 OTFBW889 Disputed Genetic Variation [4]
ATXN10 OTKRDUNN moderate Biomarker [5]
BEAN1 OT0WLH27 moderate Genetic Variation [6]
TK2 OTS1V4XB moderate Genetic Variation [6]
MBNL1 OTOV7J85 Strong Biomarker [2]
JPH3 OTHTJO2I Definitive Autosomal dominant [7]
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⏷ Show the Full List of 7 DOT(s)

References

1 A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.Hum Mol Genet. 2016 Aug 1;25(15):3164-3177. doi: 10.1093/hmg/ddw166. Epub 2016 Jun 10.
2 Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.Ann Neurol. 2007 Mar;61(3):272-82. doi: 10.1002/ana.21081.
3 Trinucleotide repeat disorders.Handb Clin Neurol. 2017;145:383-391. doi: 10.1016/B978-0-12-802395-2.00027-4.
4 Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.Eur J Med Genet. 2018 Nov;61(11):699-705. doi: 10.1016/j.ejmg.2017.12.007. Epub 2017 Dec 16.
5 RNA-mediated neuromuscular disorders.Annu Rev Neurosci. 2006;29:259-77. doi: 10.1146/annurev.neuro.29.051605.113014.
6 CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.RNA Biol. 2011 Jul-Aug;8(4):565-71. doi: 10.4161/rna.8.4.15397. Epub 2011 Jul 1.
7 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.