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2 OMIM references -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Early-onset generalized limb-onset dystonia
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

TOR1A CTNNA3
DSC2
DSG2
DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TOR1A
(0.75)
LMNA



Citations in the biomedical literature:


Early-onset generalized limb-onset dystonia
TOR1A
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



Early-onset generalized limb-onset dystonia
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

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):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory 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:
(no data available)

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



Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

(no data available)