×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.120
CausalMutation
disease
CLINVAR
×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.120
Biomarker
disease
BEFREE
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency .
15505183
2004
×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.120
GeneticVariation
disease
BEFREE
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1 ) deficiency or autosomal recessive tyrosine hydroxylase deficiency .
18345435
2007
×
Entrez Id:
5617
Gene Symbol:
PRL
PRL
0.010
Biomarker
disease
BEFREE
Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.
28667724
2017
×
Entrez Id:
6531
Gene Symbol:
SLC6A3
SLC6A3
0.010
Biomarker
disease
BEFREE
Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine.In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595).
19504720
2009
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
CausalMutation
disease
CLINVAR
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
23480488
2013
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
15747353
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
24753243
2014
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
19491146
2009
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Targeted disruption of the tyrosine hydroxylase locus results in severe catecholamine depletion and perinatal lethality in mice.
7592982
1995
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
7814018
1995
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
17698383
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
18058633
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription.
9235905
1997
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
12891655
2003
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CTD_human
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
8528210
1995
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
20056467
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
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
UNIPROT
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
CausalMutation
disease
CLINVAR
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
10585338
1999
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
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
UNIPROT
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
22815559
2012