Details of Disease | DrugMAP

General Information of Disease (ID: DIS4M8RK)

Disease Name	Obsolete Leigh syndrome with nephrotic syndrome
Synonyms	Leigh disease with nephrotic syndrome; infantile subacute necrotizing encephalopathy with nephrotic syndrome
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS4M8RK: Obsolete Leigh syndrome with nephrotic syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COQ2	OTDAKEY4	Supportive	Autosomal recessive	[1]
PDSS2	OTEOQBMX	Supportive	Autosomal recessive	[2]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006 Dec;79(6):1125-9. doi: 10.1086/510023. Epub 2006 Oct 27.