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Mitochondrial trifunctional protein deficiency

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Mitochondrial trifunctional protein deficiency

Well-differentiated liposarcoma

HADHA	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
HADHB	(UniProt - OMIM)		HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Mitochondrial trifunctional protein deficiency		Well-differentiated liposarcoma
	Synonym(s): - TFP deficiency - TFPD		Synonym(s): - ALT - Atypical lipoma - Atypical lipomatous tumor - WDLS

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 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 - 1 MeSH reference: D024741		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
Mitochondrial trifunctional protein deficiency
(no data available)