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: 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: 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: 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: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.110 Biomarker disease BEFREE Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 14694054 2003
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.110 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.100 Biomarker phenotype HPO
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
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
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: 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