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Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
2 OMIM references -
2 associated genes
25 connected diseases
13 signs/symptoms
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Young adult-onset Parkinsonism
Giant cell glioblastoma
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal agammaglobulinemia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Burkitt lymphoma
CLN3 disease
CLN5 disease
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Hypoplastic left heart syndrome
Oculodentodigital dysplasia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Syndactyly type 3
Well-differentiated liposarcoma
Glucocorticoid resistance
Familial isolated congenital asplenia
- Sengers syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C538280

Gene symbol UniProt reference OMIM reference
AGK Q53H12610345
SLC25A4 P12235103220
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

- Myopia
- Stillbirth / neonatal death

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