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3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
13 signs/symptoms
Well-differentiated liposarcoma
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

CDK4 AGK
HMGA2 SLC25A4
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MDM2
(0.63)
SLC25A4



Citations in the biomedical literature:


Well-differentiated liposarcoma
CDK4 HMGA2 MDM2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4



Well-differentiated liposarcoma
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Synonym(s):
- Sengers syndrome

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
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:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C538280

Well-differentiated liposarcoma
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder


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