SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Sepiapterin reductase deficiency: Report of 5 new cases. 28189489 2017
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 CausalMutation disease CLINVAR Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 22522443 2012
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 22522443 2012
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 22522443 2012
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease BEFREE All these conditions can be identified in newborns by an elevated phenylalanine, with the exception of sepiapterin reductase and the dominant form of GTP cyclohydrolase I deficiency that results in biopterin deficiency/insufficiency only in the brain. 19234759 2009
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 GeneticVariation disease UNIPROT Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. 17159114 2006
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 GeneticVariation disease UNIPROT Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 16650784 2006
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 CausalMutation disease CLINVAR Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. 16049044 2005
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 11443547 2001
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 GeneticVariation disease UNIPROT Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 11443547 2001
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.710 GermlineCausalMutation disease ORPHANET