ODCs

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

PROTEIN INTERACTIONS: 1

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

Leigh syndrome with nephrotic syndrome

Pyruvate dehydrogenase E3-binding protein deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DLD	(0.88)	PDHX

Citations in the biomedical literature:

Leigh syndrome with nephrotic syndrome		Pyruvate dehydrogenase E3-binding protein deficiency
	Synonym(s): - Infantile subacute necrotizing encephalopathy with nephrotic syndrome - Leigh disease with nephrotic syndrome		Synonym(s): - 2-oxoglutarate complex deficiency - Branched chain alpha-ketoacid dehydrogenase complex deficiency - Diaphorase deficiency - Dihydrolipoyl dehydrogenase deficiency - Glycine cleavage system L protein deficiency - Lipoamide dehydrogenase deficiency - Pyruvate dehydrogenase complex component E3 deficiency - Pyruvate dehydrogenase protein X component deficiency

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

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

No signs/symptoms info available.