MCID: GTP002
MIFTS: 10

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 23
Hereditary Progressive Dystonia with Marked Diurnal Fluctuation 23
Autosomal Dominant Dopa-Responsive Dystonia 23
Autosomal Dominant Segawa Syndrome 23
Dopa-Responsive Dystonia 69
Dyt5a 23

Characteristics:

GeneReviews:

23
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 69 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 gait ataxia, dystonia, diurnal and torticollis. 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:

# 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:


gait ataxia, dystonia, diurnal, torticollis

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 Dihydroxyphenylalanine

Interventional clinical trials:


# 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 Not yet 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:

# Title Authors Year
1
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia. ( 25416181 )
2015
2
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia ( 20301681 )
1993

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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