×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene.
2565377
1989
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Magnetic stimulation of the nervous system.
2019643
1991
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
9182249
1996
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
8817341
1996
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
Biomarker
phenotype
BEFREE
These results indicate that tyrosine hydroxylase in the nigrostriatal dopamine neurons may be most sensitive to tetrahydrobiopterin deficiency causing dystonia .
9205791
1997
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
9703425
1998
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
10407773
1999
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia /Segawa's syndrome, but early-onset parkinsonism.
10661862
1999
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
12891655
2003
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
LHGDN
[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].
15476168
2004
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
Biomarker
phenotype
CTD_human
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
15505183
2004
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH ) gene have been described recently.
15747353
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
15468323
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
LHGDN
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
15468323
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
LHGDN
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
18554280
2008
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
Biomarker
phenotype
BEFREE
Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia .
19761814
2009
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Tyrosine hydroxylase deficiency with severe clinical course.
19282209
2009
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
20492352
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
Missense mutation in both alleles of the TH gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism.
20809526
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
GeneticVariation
phenotype
BEFREE
We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia /dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5.
20425035
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
20430833
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
20056467
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.500
CausalMutation
phenotype
CLINVAR
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
20823027
2011