Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
12 associated genes
No signs/symptoms info
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Giant cell glioblastoma

AGK EGFR
SLC25A4 FGFR1
FGFR3
IDH1
LZTR1
MGMT
NFKBIA
PPARG
SEPT14
TACC1
TACC3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC25A4
SLC25A4
(0.76)
(0.63)
NFKBIA
MGMT



Citations in the biomedical literature:


Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4
Giant cell glioblastoma
EGFR FGFR1 FGFR3 IDH1 LZTR1 MGMT
NFKBIA PPARG SEPT14 TACC1 TACC3 TP53



Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Giant cell glioblastoma

Synonym(s):
- Sengers syndrome

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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


Giant cell glioblastoma

(no data available)