DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CLINGEN |
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
|
9703425 |
1998 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CTD_human |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
|
20198643 |
2010 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
|
23939262 |
2011 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
|
11246459 |
2000 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Four mutations in the TyrH gene have recently been described in cases of autosomal recessive DOPA-responsive dystonia (Swaans et al., Ann Hum Genet 2000;64:25-31).
|
15468323 |
2005 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Human gene-centered transcription factor networks for enhancers and disease variants.
|
25910213 |
2015 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.
|
27934587 |
2016 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
|
22815559 |
2012 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene.
|
22264700 |
2012 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
AlteredExpression
|
disease |
BEFREE |
Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
|
23939262 |
2011 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
|
16049992 |
2005 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
|
11160968 |
2001 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene.
|
22264700 |
2012 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
|
17696123 |
2007 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
|
20823027 |
2011 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
|
11160968 |
2001 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
|
10585338 |
1999 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex encephalopathy with perinatal onset, termed type B.
|
26276013 |
2015 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
|
24753243 |
2014 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
|
18554280 |
2008 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
|
9703425 |
1998 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
|
21940685 |
2012 |