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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
7 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Early-onset generalized limb-onset dystonia

LMNA TOR1A


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Early-onset generalized limb-onset dystonia
TOR1A



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Early-onset generalized limb-onset dystonia

Synonym(s):
- Cardiogenital syndrome
- Malouf syndrome
- Najjar syndrome

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

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance


Dilated cardiomyopathy - hypergonadotropic hypogonadism
Early-onset generalized limb-onset dystonia

Very frequent
- Abnormal / polycystic ovaries
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis



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

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