HD HTT
Disease ID
HD
Gene ID
HTT
Updated
Feb 5, 2025
v2.2.1
v2.2.1
Disease
Name
Huntington disease
Inheritance
Autosomal dominant Description
Locus
Details
Mechanism
GoF/LoF
Alleles
Ref. Motif
CAG
Pathogenic (ref.)
CAG
Pathogenic (gene)
AGC
gnomAD
References
Direct supporting references for info on this page.
2
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti
American journal of human genetics · 2017-11-02
pmid:291000843
Huntington Disease
Nicholas S.,Caron, Galen EB,Wright, Michael R.,Hayden
GeneReviews® · 1993-01-01
genereviews:NBK13054
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.
Zöe,Powis, Jonathon,Lutz, Khalida,Liaquat, Jyes A,Querubin, Sat Dev,Batish
American journal of medical genetics. Part A · 2024-10-23
pmid:394410745
Huntington's disease: a clinical review.
Raymund A C,Roos
Orphanet journal of rare diseases · 2010-12-20
pmid:211719776
Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.
Magdalena,Vater, Nicolas,Rost, Gertrud,Eckstein, Susann,Sauer, Alina,Tontsch, Angelika,Erhardt, Susanne,Lucae, Tanja,Brückl, Thomas,Klopstock, Philipp G,Sämann, Elisabeth B,Binder
European journal of human genetics : EJHG · 2024-11-21
pmid:395727707
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson
Science advances · 2022-03-04
pmid:352451108
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
Audrey E,Hendricks, Jeanne C,Latourelle, Kathryn L,Lunetta, L Adrienne,Cupples, Vanessa,Wheeler, Marcy E,MacDonald, James F,Gusella, Richard H,Myers
American journal of medical genetics. Part A · 2009-07-01
pmid:195072589
Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.
Maria,Jimenez-Sanchez, Floriana,Licitra, Benjamin R,Underwood, David C,Rubinsztein
Cold Spring Harbor perspectives in medicine · 2017-07-05
pmid:2794060210
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Cell · 1993-03-26
pmid:8458085Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)