MCID: GTP002
MIFTS: 19

Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Aliases & Classifications for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

MalaCards integrated aliases for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia:

Name: Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 24
Hereditary Progressive Dystonia with Marked Diurnal Fluctuation 24
Autosomal Dominant Dopa-Responsive Dystonia 24
Autosomal Dominant Segawa Syndrome 24
Dopa-Responsive Dystonia 72
Dyt5a 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance in individuals with gtpch1-deficient drd has been reported to be higher in females than in males: 87% vs 38% [furukawa et al 1998b], 100% vs 55% [steinberger et al 1998], and 87% vs 35% [segawa et al 2003].

External Ids:

UMLS 72 C1851920

Summaries for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

MalaCards based summary : Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia, also known as hereditary progressive dystonia with marked diurnal fluctuation, is related to hyperphenylalaninemia, bh4-deficient, a and dyt/park-gch1, and has symptoms including gait ataxia, torticollis and dystonia, diurnal. An important gene associated with Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia is GCH1 (GTP Cyclohydrolase 1). The drugs Iron and Dihydroxyphenylalanine have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews: NBK1508

Related Diseases for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Diseases related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 11.5
2 dyt/park-gch1 11.4
3 dystonia 10.6
4 dystonia, dopa-responsive 10.5
5 segawa syndrome, autosomal recessive 10.5
6 tremor 10.5
7 parkinson disease, late-onset 10.2
8 torticollis 10.2
9 hyperphenylalaninemia, bh4-deficient, c 10.2
10 focal dystonia 10.2
11 scoliosis 10.2
12 obsessive-compulsive disorder 10.1
13 major depressive disorder 10.1
14 mental depression 10.1
15 sleep disorder 10.1
16 depression 10.1

Graphical network of the top 20 diseases related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia:



Diseases related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Symptoms & Phenotypes for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

UMLS symptoms related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia:


gait ataxia, torticollis, dystonia, diurnal

Drugs & Therapeutics for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Drugs for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
2 Dihydroxyphenylalanine
3 Micronutrients
4 Nutrients
5 Trace Elements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GENomic Biomarkers for PARKinson's Disease Completed NCT00465790
2 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Recruiting NCT01373424
3 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

Search NIH Clinical Center for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Genetic Tests for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Anatomical Context for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

MalaCards organs/tissues related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia:

41
Brain

Publications for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Articles related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia:

(show top 50) (show all 131)
# Title Authors PMID Year
1
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia. 38 4
28958832 2017
2
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia. 38 4
25416181 2015
3
A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia. 38 4
15165667 2004
4
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. 38 4
7730309 1995
5
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. 38 4
7874165 1994
6
Hereditary progressive dystonia with marked diurnal fluctuation. 38 4
945938 1976
7
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia. 4
29471552 2018
8
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease. 4
29948246 2018
9
Degree of dopaminergic degeneration measured by 99mTc-TRODAT-1 SPECT/CT imaging. 4
30028339 2018
10
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia. 4
29147684 2017
11
Non-motor symptoms and quality of life in dopa-responsive dystonia patients. 4
29066160 2017
12
Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. 4
28949038 2017
13
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. 4
28558098 2017
14
A marked contrast between serotonergic and dopaminergic changes in dopa-responsive dystonia. 4
27488599 2016
15
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. 4
27080360 2016
16
Timing, rates and spectra of human germline mutation. 4
26656846 2016
17
Nonmotor Symptoms in Dopa-Responsive Dystonia. 4
30363518 2015
18
Dopa-responsive dystonia--clinical and genetic heterogeneity. 4
26100751 2015
19
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. 4
25433916 2015
20
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease. 4
25634433 2015
21
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. 4
24993959 2014
22
Non-motor phenotype of dopa-responsive dystonia and quality of life assessment. 4
24444533 2014
23
Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one? 4
23771491 2013
24
Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: evidence observed in studies on Segawa disease. 4
23468278 2013
25
Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. 4
22986512 2012
26
Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report. 4
22030322 2012
27
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 4
22522443 2012
28
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. 4
22291068 2012
29
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 4
21431957 2011
30
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. 4
20842687 2011
31
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. 4
20818608 2011
32
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. 4
20082337 2010
33
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. 4
20108370 2010
34
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 4
19332422 2009
35
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 4
19491146 2009
36
Responsiveness to levodopa in epsilon-sarcoglycan deletions. 4
19133653 2009
37
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. 4
18276179 2008
38
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. 4
17804835 2008
39
Frequency of GCH1 deletions in Dopa-responsive dystonia. 4
17898029 2008
40
Preferential loss of serotonin markers in caudate versus putamen in Parkinson's disease. 4
17956909 2008
41
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? 4
16267845 2006
42
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. 4
16361586 2006
43
Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. 4
16135092 2005
44
The metabolic pathology of dopa-responsive dystonia. 4
15786454 2005
45
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. 4
15753436 2005
46
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. 4
15389992 2004
47
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. 4
15241655 2004
48
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. 4
15133828 2004
49
Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. 4
14705130 2004
50
Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. 4
14509665 2004

Variations for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Expression for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Search GEO for disease gene expression data for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

Pathways for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

GO Terms for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Sources for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

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