|
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sepiapterin reductase deficiency: Report of 5 new cases.
|
28189489 |
2017 |
|
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 |
|
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 |
|
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
|
22522443 |
2012 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
|
16650784 |
2006 |
|
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 |
|
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 |
|
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 |
|
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
|
16650784 |
2006 |
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
No exon deletions or duplicate mutations in the two genes were found in patients with DRD.No mutation in SPR was found.
|
27619486 |
2017 |
|
Dopa-Responsive Dystonia
|
0.370 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Previous testing for mutations in the genes known to cause DRD (GCH1, TH, and SPR) had been negative.
|
23946315 |
2013 |
|
Dopa-Responsive Dystonia
|
0.370 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
|
22522443 |
2012 |
|
Dopa-Responsive Dystonia
|
0.370 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
|
22522443 |
2012 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive (AR) forms of DRD are caused by homozygous or compound heterozygous mutations of the tyrosine hydroxylase (TH) or the sepiapterin reductase (SPR) gene.
|
20590807 |
2010 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The more recently described and rarer type of BH(4) deficiency due to Sepiapterin Reductase enzyme deficiency (SR; EC 1.1.1.153; OMIM 182125), which presents as an atypical form of Dopa Responsive Dystonia (DRD) [L. Bonafe, B. Thony, J.M.
|
17188538 |
2007 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The rapid and favourable response on treatment with L-DOPA warrants the classification of SR deficiency as another autosomal recessive type of DOPA-responsive dystonia (DRD).
|
16650784 |
2006 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase (SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD).
|
15241655 |
2004 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
While DRD is mostly caused by autosomal dominant mutations in the GTP cyclohydrolase I gene (GCH1), SR deficiency is an autosomal recessive disease.
|
11592814 |
2001 |