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Oxoglutaricaciduria

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Leigh syndrome with nephrotic syndrome

2 OMIM references -
4 associated genes
No signs/symptoms info

Oxoglutaricaciduria

Leigh syndrome with nephrotic syndrome

OGDH	(UniProt - OMIM)		BCS1L	(UniProt - OMIM)
			COQ2	(UniProt - OMIM)
			DLD	(UniProt - OMIM)
			PDSS2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OGDH	(0.85)	DLD

Citations in the biomedical literature:

Oxoglutaricaciduria		Leigh syndrome with nephrotic syndrome
	Synonym(s): - Alpha-ketoglutarate dehydrogenase deficiency		Synonym(s): - Infantile subacute necrotizing encephalopathy with nephrotic syndrome - Leigh disease with nephrotic syndrome

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	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: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536582		External references: 2 OMIM references - No MeSH references

Oxoglutaricaciduria
	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
Leigh syndrome with nephrotic syndrome
(no data available)