MCID: GTP002
MIFTS: 14

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 73
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 73 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 dystonia, dopa-responsive and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including torticollis, dystonia, diurnal and gait ataxia. The drug Dihydroxyphenylalanine has been mentioned in the context of this disorder.

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:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive 12.0
2 hyperphenylalaninemia, bh4-deficient, a 11.2
3 dystonia 10.5

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

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


torticollis, dystonia, diurnal, gait ataxia

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):

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dihydroxyphenylalanine

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Research of Biomarkers in Parkinson Disease Completed NCT00465790
2 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
3 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

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

Publications for Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

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

(showing 12, show less)
# Title Authors Year
1
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia. ( 25416181 )
2015
2
Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene? ( 14509676 )
2004
3
Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease. ( 10984669 )
2000
4
Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. ( 10984668 )
2000
5
Hereditary progressive dystonia with marked diurnal fluctuation. ( 10984664 )
2000
6
Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation. ( 10403837 )
1999
7
[Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism]. ( 9128393 )
1996
8
GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. ( 7501255 )
1995
9
[Significance of CSF biopterin and neopterin in hereditary progressive dystonia with marked diurnal fluctuation (HPD)--a clue to pathogenesis]. ( 7669428 )
1995
10
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. ( 7874165 )
1994
11
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia ( 20301681 )
1993
12
Hereditary progressive dystonia with marked diurnal fluctuation in a family with pigmentary retinopathy. ( 3825618 )
1986

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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