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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Lennox-Gastaut syndrome
Autosomal dominant dopa-responsive dystonia

CHD2 GCH1
MAPK10
SCN1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPK10
(0.63)
GCH1



Citations in the biomedical literature:


Lennox-Gastaut syndrome
CHD2 MAPK10 SCN1A
Autosomal dominant dopa-responsive dystonia
GCH1



Lennox-Gastaut syndrome
Autosomal dominant dopa-responsive dystonia

Synonym(s):
(no synonyms)

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):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
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:
No OMIM references
1 MeSH reference: C535500
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.