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2 OMIM references -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Early-onset generalized limb-onset dystonia
Autosomal dominant Charcot-Marie-Tooth disease type 2O

TOR1A DYNC1H1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Early-onset generalized limb-onset dystonia
TOR1A
Autosomal dominant Charcot-Marie-Tooth disease type 2O
DYNC1H1



Early-onset generalized limb-onset dystonia
Autosomal dominant Charcot-Marie-Tooth disease type 2O

Synonym(s):
- DYT1
- Dystonia musculorum deformans
- EOTD
- Early-onset generalized torsion dystonia
- Early-onset primary dystonia
- Early-onset torsion dystonia
- Idiopathic dystonia
- Idiopathic torsion dystonia
- Oppenheim dystonia

Synonym(s):
- CMT2O

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: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Early-onset generalized limb-onset dystonia

Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Muscle anomalies

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech



Autosomal dominant Charcot-Marie-Tooth disease type 2O

(no data available)