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Autosomal dominant dopa-responsive dystonia
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
GTP cyclohydrolase I deficiency
2p21 microdeletion syndrome
Lennox-Gastaut syndrome
Synonym(s):
- Autosomal dominant Segawa syndrome
- DYT5a
- GTPCH1-deficient DRD
- GTPCH1-deficient dopa-responsive dystonia
- HPD with marked diurnal fluctuation
- Hereditary progressive dystonia with marked diurnal fluctuation
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GCH1 P30793600225
No signs/symptoms info available.