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: C3472623
Disease: Serrated adenocarcinoma
Serrated adenocarcinoma 		0.010 AlteredExpression disease BEFREE Molecular profiling demonstrates that SAC shows activation of distinct signaling pathways and that immunohistochemical fascin1 and hippocalcin expression can be reliably used for its differentiation from other CRC subtypes. 22696308 2013
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 GermlineCausalMutation disease ORPHANET Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype 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 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: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype 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 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: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 GeneticVariation disease UNIPROT Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 28398555 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 GeneticVariation phenotype 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: C0013421
Disease: Dystonia
Dystonia 		0.070 Biomarker phenotype 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 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: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. 30145809 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 GeneticVariation phenotype BEFREE Our findings confirm that HPCA leads to recessively inherited dystonia. 30145809 2018
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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		0.010 AlteredExpression disease BEFREE A proteomic approach showed that the protein levels of hippocalcin and parvalbumin were significantly decreased in streptozotocin-treated animals with MCAO injury compared to streptozotocin-treated animals and animals that underwent MCAO alone. 29061397 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.070 GeneticVariation phenotype 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 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