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Dedifferentiated liposarcoma

3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Pyruvate dehydrogenase E3 deficiency

1 OMIM reference -
1 associated gene
11 signs/symptoms

Dedifferentiated liposarcoma

Pyruvate dehydrogenase E3 deficiency

CDK4	(UniProt - OMIM)		DLD	(UniProt - OMIM)
HMGA2	(UniProt - OMIM)
MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MDM2	(0.63)	DLD

Citations in the biomedical literature:

Dedifferentiated liposarcoma		Pyruvate dehydrogenase E3 deficiency
	Synonym(s): - DDLS		Synonym(s): - DLD deficiency - Dihydrolipoamide dehydrogenase deficiency - E3-deficient maple syrup urine disease

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

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

Pyruvate dehydrogenase E3 deficiency
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Organic acid metabolism anomalies Frequent - Abnormal gait - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Movement disorder Occasional - Hepatocellular liver disease / hepatic failure - Hypoglycemia
Dedifferentiated liposarcoma
(no data available)