|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
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 |
|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
Leu205Pro polymorphism is a rare mutation that is reported to cause Parkinsonism in infancy for individuals who are homozygous for the mutated type.
|
9613851 |
1998 |
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Leu205Pro polymorphism was examined by using PCR and digestion by AluI; however, there was no individual who carried the mutated type of Pro205 among 50 schizophrenics or 50 patients with PD.
|
9613851 |
1998 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
|
23480488 |
2013 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
|
7814018 |
1995 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
|
23762320 |
2013 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
|
16049992 |
2005 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
|
20056467 |
2010 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
|
20198643 |
2010 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
|
22815559 |
2012 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.
|
9613851 |
1998 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
|
8528210 |
1995 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
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)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
|
20430833 |
2010 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
|
15505183 |
2004 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
|
18058633 |
2007 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
|
20198643 |
2010 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
|
20430833 |
2010 |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
|
10585338 |
1999 |