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PROTEIN INTERACTIONS: 1
3 associated genes
4 signs/symptoms
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Well-differentiated liposarcoma

RRM2B CDK4
HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RRM2B
(0.77)
MDM2



Citations in the biomedical literature:


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
RRM2B
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Well-differentiated liposarcoma

Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy

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

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

Well-differentiated liposarcoma

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


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

(no data available)