HPCA, hippocalcin, 3208

N. diseases: 24; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group BEFREE In conclusion, our study identifies sAHP as a downstream cellular target perturbed by N75K mutation in DYT2 dystonia, demonstrates its impact on neuronal excitability, and suggests a potential therapeutic strategy to efficiently treat DYT2. 31301343 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group BEFREE Our findings confirm that HPCA leads to recessively inherited dystonia. 30145809 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 Biomarker group BEFREE Our data demonstrate that the dystonia-causing mutations strongly affect hippocalcin cellular functions which suggest a central role for perturbed calcium signalling in DYT2 dystonia. 28398555 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group BEFREE None of the patients enrolled was found to carry HPCA mutations, rising suspicion that these probably represent a very rare cause of dystonia in childhood-adolescence. 27771228 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 Biomarker group BEFREE These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis. 26991507 2016
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 Biomarker group BEFREE The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether "DYT2 dystonia" is a genetically homogeneous condition or not. 25799108 2015
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group BEFREE This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). 15390074 2005