Details of Disease

General Information of Disease (ID: DIS2UELC)

Disease Name Leigh syndrome with cardiomyopathy
Synonyms Leigh disease with myopathy; cardiomyopathy with myopathy due to COX deficiency; cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Disease Hierarchy
DISWQU45: Leigh syndrome
DIS2UELC: Leigh syndrome with cardiomyopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NDUFS2 DEKX5CD Supportive Autosomal recessive [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NDUFAF3 OT4MCB6W Supportive Autosomal recessive [2]
NDUFB8 OTW4A4Q0 Supportive Autosomal recessive [3]
NDUFS2 OTBT8KW9 Supportive Autosomal recessive [1]
SURF1 OTAINRSS Supportive Autosomal recessive [4]
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References

1 A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome. Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20.
2 Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11.
3 NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.
4 SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis. 2013 Jul 5;8:96. doi: 10.1186/1750-1172-8-96.