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 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 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 <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 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 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 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 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 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 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 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 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: 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 CausalMutation disease CLINVAR
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
0.800 Biomarker disease CTD_human
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
0.800 GermlineCausalMutation disease ORPHANET
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 Biomarker disease CTD_human Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. 17892325 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.300 Biomarker group CTD_human Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. 17892325 2007
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: C0497327
Disease: Dementia
Dementia
0.120 Biomarker disease LHGDN A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. 17708569 2007
CUI: C0497327
Disease: Dementia
Dementia
0.120 Biomarker disease HPO
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