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1 OMIM reference -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Myoclonus-dystonia syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

DRD2 DYNC1H1
DYT15
SGCE
TOR1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TOR1A
(0.76)
DYNC1H1



Citations in the biomedical literature:


Myoclonus-dystonia syndrome
DRD2 DYT15 SGCE TOR1A
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1



Myoclonus-dystonia syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Synonym(s):
- Alcohol-responsive dystonia
- DYT11
- Hereditary essential myoclonus
- Myoclonic dystonia

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536096
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.