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Oxoglutaricaciduria

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Oxoglutaricaciduria

Well-differentiated liposarcoma

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


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

Citations in the biomedical literature:

Oxoglutaricaciduria		Well-differentiated liposarcoma
	Synonym(s): - Alpha-ketoglutarate dehydrogenase deficiency		Synonym(s): - ALT - Atypical lipoma - Atypical lipomatous tumor - WDLS

	Classification (Orphanet): - Inborn errors of metabolism - 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: 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: C536582		External references: No OMIM references No MeSH references

Oxoglutaricaciduria		Well-differentiated liposarcoma
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Organic acid metabolism anomalies - Short stature / dwarfism / nanism Frequent - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct - Hydrocephaly - Movement disorder		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