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2 OMIM references -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
10 OMIM references -
12 associated genes
No signs/symptoms info
Early-onset generalized limb-onset dystonia
Left ventricular noncompaction

TOR1A ACTC1
DTNA
LDB3
LMNA
MIB1
MYBPC3
MYH7
MYH7B
PRDM16
TAZ
TNNT2
TPM1


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
Left ventricular noncompaction
ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
MYH7 MYH7B PRDM16 TAZ TNNT2 TPM1



Early-onset generalized limb-onset dystonia
Left ventricular noncompaction

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):
- LVNC
- Left ventricular hypertrabeculation
- Spongy myocardium

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:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
10 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



Left ventricular noncompaction

(no data available)