HDL2 JPH3

Som. Inst.Len. → Pheno.Len. → OnsetLen. → Pen.Len. → Sev.
Disease ID
HDL2
Gene ID
JPH3
Clinical Links
GARD
16874
GeneReviews
NBK1529
MalaCard
HNT004
MedGen
341120
Mondo
0011671
OMIM
606438
Orphanet
98934
Bioinformatical Links
gnomAD
JPH3
STRipy
JPH3
TR-Atlas
TR143309
WebSTR hg38
8285165987878
WebSTR hg19
Expansion_HDL2/JPH3

Disease

Name
Huntington disease-like 2
Inheritance
Autosomal dominant
Description
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 abnormalities1 .
Prevalence
<1/1,000,0002 . Largely in individuals of African ancestry3 .
Age of Onset(Typical)Years12  6630  52
Age of Onset Details
Typical: 30-52; Range: 12-663 .

Locus

hg19
chr16:87637889-87637935
hg38
chr16:87604283-87604329
t2t
chr16:93675724-93675776
Details
Intermediate alleles (29-39) may either be premutations or associated with reduced penetrance; the longest pathogenic expansion (40+ motifs) to date is 60 repeats3
Mechanism
LoF/GoF
Non-mutually exclusive mechanisms include loss of function from RNA sequestration and gain of function from toxic transcripts and increased protein expression3
Year
20014
Location in Gene
Exon 2
Gene Strand

Alleles

Ref. Motif
CTG
Pathogenic (ref.)
CTG
Pathogenic (gene)
CTG
BenignIntermediatePathogenicUnits6  2829  3940  60

gnomAD

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0011671
2
Orphanet: Huntington disease-like 2
orphanet:98934
3
Huntington Disease-Like 2
David G.,Anderson, Amanda,Krause, Russell L.,Margolis
GeneReviews® · 1993-01-01
genereviews:NBK1529
4
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
S E,Holmes, E,O'Hearn, A,Rosenblatt, C,Callahan, H S,Hwang, R G,Ingersoll-Ashworth, A,Fleisher, G,Stevanin, A,Brice, N T,Potter, C A,Ross, R L,Margolis
Nature genetics · 2001-12-01
pmid:11694876

Additional 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)

NMR structures of small molecules bound to a model of an RNA CUG repeat expansion.
Jonathan L,Chen, Amirhossein,Taghavi, Alexander J,Frank, Matthew A,Fountain, Shruti,Choudhary, Soma,Roy, Jessica L,Childs-Disney, Matthew D,Disney
bioRxiv : the preprint server for biology · 2024-06-22
pmid:38948793
Atypical Presentations of Huntington Disease-like 2 in South African Individuals.
Heena,Narotam-Jeena, Mark,Guttman, Ludo,van Hillegondsberg, Riaan,van Coller, Amanda,Krause, Jonathan,Carr
Movement disorders clinical practice · 2024-05-09
pmid:38725192
The First Case of Huntington's Disease like 2 in Mali, West Africa.
Abdoulaye,Bocoum, Madani,Ouologuem, Lassana,Cissé, Fahmida,Essop, Souleymane,Dit Papa Coulibaly, Nadine,Botha, Cheick A K,Cissé, Alassane,Dit Baneye Maiga, Amanda,Krause, Guida,Landouré
Tremor and other hyperkinetic movements (New York, N.Y.) · 2024-04-02
pmid:38617831
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
Martin,Paucar, José,Laffita-Mesa, Valter,Niemelä, Helena,Malmgren, Inger,Nennesmo, Kristina,Lagerstedt-Robinson, Magnus,Nordenskjöld, Per,Svenningsson
Journal of the neurological sciences · 2023-06-10
pmid:37379724
Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population.
Miguel Ángel,Ramírez-García, David José,Dávila-Ortiz de Montellano, Leticia,Martínez-Ruano, Adriana,Ochoa-Morales, Sandra,Romero-Hidalgo, Juan Carlos,Zenteno, Petra,Yescas-Gómez
Neuro-degenerative diseases · 2022-08-04
pmid:35926480
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.
Thomas,Bourinaris, Alkyoni,Athanasiou, Stephanie,Efthymiou, Sarah,Wiethoff, Vincenzo,Salpietro, Henry,Houlden
European journal of human genetics : EJHG · 2021-04-06
pmid:33824468
The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease.
Aline,Ferreira-Correia, Amanda,Krause, David G,Anderson
Journal of Huntington's disease · 2020-01-01
pmid:33044188
Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.
Jaslovleen,Kaur, Shaista,Parveen, Uzma,Shamim, Pooja,Sharma, Varun,Suroliya, Akhilesh Kumar,Sonkar, Istaq,Ahmad, Jyoti,Garg, Kuljeet Singh,Anand, Sanghamitra,Laskar, Debashish,Chowdhury, Suman,Kushwaha, Vinay,Goyal, Achal K,Srivastava, Gagandeep,Singh, Mohd,Faruq
Journal of Huntington's disease · 2020-01-01
pmid:32675418
Huntington disease like 2 (HDL-2) with parkinsonism and abnormal DAT-SPECT - A novel observation.
Eoin,Mulroy, Anna,Latorre, Elisa,Menozzi, Pei Chiek,Teh, Francesca,Magrinelli, Kailash P,Bhatia
Parkinsonism & related disorders · 2020-01-16
pmid:32028232