MCID: GTP002
MIFTS: 11

Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Categories: Genetic diseases

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 24
Hereditary Progressive Dystonia with Marked Diurnal Fluctuation 23 24
Autosomal Dominant Dopa-Responsive Dystonia 23 24
Autosomal Dominant Segawa Syndrome 23 24
Gtp Cyclohydrolase 1 Deficient Drd 24
Gtp Cyclohydrolase 1-Deficient Drd 24
Dopa-Responsive Dystonia 69
Gtpch 1 Deficient Drd 24
Gtpch 1-Deficient Drd 24
Dyt5a 23
Dyt5 24

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]...

Classifications:



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, with or without hyperphenylalaninemia and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including torticollis, dystonia, diurnal and gait ataxia. An important gene associated with Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia is GCH1 (GTP Cyclohydrolase 1).

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:

id Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive, with or without hyperphenylalaninemia 11.8
2 hyperphenylalaninemia, bh4-deficient, a 11.1
3 dystonia 10.4

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

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

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

Genetic tests related to Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 24 GCH1

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:

id 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

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