×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
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
0.720
GeneticVariation
disease
UNIPROT
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
15505183
2004
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
CausalMutation
disease
CLINVAR
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
20198643
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
23480488
2013
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GermlineCausalMutation
disease
ORPHANET
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
20198643
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
GENOMICS_ENGLAND
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
11246459
2000
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Human gene-centered transcription factor networks for enhancers and disease variants.
25910213
2015
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.
27934587
2016
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
22815559
2012
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
16049992
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
11160968
2001
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
CausalMutation
disease
CLINVAR
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
20823027
2011
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
11160968
2001
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
GENOMICS_ENGLAND
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
10585338
1999
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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