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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 3
14 OMIM references -
13 associated genes
No signs/symptoms info
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Young adult-onset Parkinsonism

AGK EIF4G1
SLC25A4 GBA
GIGYF2
HTRA2
LRRK2
NR4A2
PACRG
PARK2
PARK7
PINK1
SNCA
UCHL1
VPS35


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC25A4
AGK
SLC25A4
(0.82)
(0.63)
(0.63)
LRRK2
PARK2
PARK2



Citations in the biomedical literature:


Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4
Young adult-onset Parkinsonism
EIF4G1 GBA GIGYF2 HTRA2 LRRK2 NR4A2
PACRG PARK2 PARK7 PINK1 SNCA UCHL1
VPS35



Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Young adult-onset Parkinsonism

Synonym(s):
- Sengers syndrome

Synonym(s):
- Early-onset Parkinson disease
- Familial Parkinson disease
- Hereditary Parkinson disease
- Young-onset Parkinson disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C538280
External references:
14 OMIM references -
No MeSH references

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Myopathy
- Nystagmus
- Organic acid metabolism anomalies
- Strabismus / squint

Frequent
- Myopia
- Stillbirth / neonatal death

Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Corneal dystrophy
- Glaucoma


Young adult-onset Parkinsonism

(no data available)