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GENATLAS PHENOTYPE
last update : 02-01-2017
Symbol DYT5
Location 14q22.2
HGNC id 3105
Name dystonia 5, progressive, with diurnal variations
Other name(s)
  • hereditary progressive dystonia with marked diurnal fluctuation
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
  • Corresponding gene GCH1
    Other symbol(s) DDR, DRD, DYT14
    Main clinical features
  • dopa-responsive, with childhood onset, tetrahydrobiopterin BH4 synthesis deficiency
  • marked diurnal fluctuations and an excellent response to levodopa
  • can be the major clinical sign
    Genetic determination autosomal dominant
    Prevalence 5087% of DRD
    Related entries . including adult onset oromandibular dystonia, and autosomal dominant form of Segawa syndrome
    Function/system disorder neurology
    Type disease
    Gene product
    Name GTP cyclohydrolase I (GCH1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/gain of function dominant negative mutations
    Remark(s)