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2 OMIM references -
2 associated genes
13 signs/symptoms
COMMON GENES: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Autosomal dominant progressive external ophthalmoplegia

AGK C10ORF2
SLC25A4 POLG
POLG2
RRM2B
SLC25A4


COMMON
GENES
SLC25A4



Citations in the biomedical literature:


Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 RRM2B



Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- Sengers syndrome

Synonym(s):
- adPEO

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

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:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: C538280
External references:
5 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


Autosomal dominant progressive external ophthalmoplegia

(no data available)