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Pyruvate dehydrogenase E1-beta deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Pyruvate dehydrogenase E1-beta deficiency

Well-differentiated liposarcoma

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


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

Citations in the biomedical literature:

Pyruvate dehydrogenase E1-beta deficiency		Well-differentiated liposarcoma
	Synonym(s): - PDHBD - Pyruvate dehydrogenase complex E1 component subunit beta deficiency		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		Classification (Orphanet): - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

	External references: 1 OMIM reference - 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
Pyruvate dehydrogenase E1-beta deficiency
(no data available)