JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE Huntington's Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. 31704316 2020
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE The existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2, similar to the proposed pathogenic role of expanded CUG repeats in myotonic dystrophy type 1 (DM1). 17387722 2007
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE <i>JPH3</i> mutations are linked to Huntington's disease-like 2 syndrome. 28656064 2017
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). 17708569 2007
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE Huntington's Disease-Like 2 (HDL2), caused by a CTG/CAG expansion in JPH3 on chromosome 16q24, is the most common Huntington's Disease (HD) phenocopy in populations with African ancestry. 30682531 2019
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. 11694876 2001
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in JPH3, confirming the diagnosis of Huntington disease like 2 (HDL2). 26079385 2015
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3), dentatorubral pallidoluysian atrophy (DRPLA; gene ATN1) and spinocerebellar ataxia type 17 (SCA17; gene TBP). 18651325 2008
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE Molecular analyses reveal a promoter at the transgene locus driving the expression of a CAG repeat transcript (HDL2-CAG) from the strand antisense to JPH3, which encodes an expanded polyglutamine (polyQ) protein. 21555070 2011
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. 29253590 2018
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin. 22971727 2013
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 AlteredExpression disease BEFREE Available data from cell and animal models and human brain suggest that HDL2 is a complex disease in which transcripts and proteins expressed bidirectionally from the junctophilin-3 locus contribute to pathogenesis through both gain-and loss-of-function mechanisms. 27749395 2016
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE Recent evidence indicates that the HDL2 expansion may give rise to a toxic polyQ protein translated from an antisense mRNA derived from the JPH3 locus. 27288455 2016
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-3 gene associated with Huntington's disease-like 2 (HDL2). 14557581 2003
CUI: C0497327
Disease: Dementia
Dementia 		0.120 GeneticVariation disease BEFREE Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. 22447335 2012
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 GeneticVariation phenotype BEFREE Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. 22447335 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 Biomarker disease BEFREE Recognition of and testing for HDL2 is important in South Africa's large Black population, and HD testing services cannot be considered complete unless testing for both HD1 and HDL2 are undertaken. 21838519 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 Biomarker disease BEFREE A review of all testing records for HD and HDL2 over a 20-year period was undertaken. 26882115 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE Patients with expansions in the TBP or JPH3 genes had HDL phenotypes indistinguishable from Huntington's disease. 12805114 2003
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE The authors report a large series of patients with Huntington disease (HD)-like phenotype without CAG repeat expansions in the IT15 gene that were screened for the newly identified CAG/CTG expansion in the gene encoding junctophilin-3. 11914418 2002
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE Huntington's disease-like-2 (HDL2) is a phenocopy of Huntington's disease caused by CTG/CAG repeat expansion at the Junctophilin-3 (JPH3) locus. 21555070 2011
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. 24102565 2014
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE HDL2, almost indistinguishable from HD, is due to expansions in the Junctophilin 3 locus (JPH3) with a worldwide Sub-Saharan ethnic origin. 22971727 2013
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation. 26079385 2015
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease BEFREE The study on 244 patients referred with the clinical diagnosis of HD and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2. 18651325 2008