MCID: LGH013
MIFTS: 19

Leigh Syndrome with Cardiomyopathy

Categories: Cardiovascular diseases, Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leigh Syndrome with Cardiomyopathy

MalaCards integrated aliases for Leigh Syndrome with Cardiomyopathy:

Name: Leigh Syndrome with Cardiomyopathy 60
Cardiomyopathy with Hypotonia Due to Cytochrome C Oxidase Deficiency 60
Cardiomyopathy with Myopathy Due to Cox Deficiency 60
Leigh Disease with Myopathy 60

Classifications:



External Ids:

ICD10 via Orphanet 35 G31.8
Orphanet 60 ORPHA70474

Summaries for Leigh Syndrome with Cardiomyopathy

MalaCards based summary : Leigh Syndrome with Cardiomyopathy, also known as cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency, is related to cardioencephalomyopathy and leigh syndrome with leukodystrophy. An important gene associated with Leigh Syndrome with Cardiomyopathy is NDUFS2 (NADH:Ubiquinone Oxidoreductase Core Subunit S2), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye.

Related Diseases for Leigh Syndrome with Cardiomyopathy

Diseases related to Leigh Syndrome with Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardioencephalomyopathy 9.8 SCO2 SURF1
2 leigh syndrome with leukodystrophy 9.8 NDUFS2 SURF1
3 leber hereditary optic neuropathy 9.7 NDUFAF3 NDUFS2
4 mitochondrial complex iv deficiency 9.7 SCO2 SURF1
5 mitochondrial metabolism disease 9.6 NDUFS2 SCO2 SURF1
6 leigh syndrome 8.8 NDUFAF3 NDUFB8 NDUFS2 SCO2 SURF1

Graphical network of the top 20 diseases related to Leigh Syndrome with Cardiomyopathy:



Diseases related to Leigh Syndrome with Cardiomyopathy

Symptoms & Phenotypes for Leigh Syndrome with Cardiomyopathy

Drugs & Therapeutics for Leigh Syndrome with Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Leigh Syndrome with Cardiomyopathy

Genetic Tests for Leigh Syndrome with Cardiomyopathy

Anatomical Context for Leigh Syndrome with Cardiomyopathy

MalaCards organs/tissues related to Leigh Syndrome with Cardiomyopathy:

42
Eye

Publications for Leigh Syndrome with Cardiomyopathy

Variations for Leigh Syndrome with Cardiomyopathy

Expression for Leigh Syndrome with Cardiomyopathy

Search GEO for disease gene expression data for Leigh Syndrome with Cardiomyopathy.

Pathways for Leigh Syndrome with Cardiomyopathy

GO Terms for Leigh Syndrome with Cardiomyopathy

Cellular components related to Leigh Syndrome with Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 NDUFAF3 NDUFB8 NDUFS2 SCO2 SURF1
2 mitochondrial matrix GO:0005759 9.33 NDUFB8 NDUFS2 SCO2
3 respiratory chain GO:0070469 9.32 NDUFB8 NDUFS2
4 mitochondrial respiratory chain complex I GO:0005747 9.26 NDUFB8 NDUFS2
5 mitochondrial inner membrane GO:0005743 9.02 NDUFAF3 NDUFB8 NDUFS2 SCO2 SURF1

Biological processes related to Leigh Syndrome with Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 NDUFB8 NDUFS2 SCO2 SURF1
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.32 NDUFB8 NDUFS2
3 mitochondrial respiratory chain complex IV assembly GO:0033617 9.26 SCO2 SURF1
4 respiratory chain complex IV assembly GO:0008535 8.96 SCO2 SURF1
5 mitochondrial respiratory chain complex I assembly GO:0032981 8.8 NDUFAF3 NDUFB8 NDUFS2

Molecular functions related to Leigh Syndrome with Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 NDUFB8 NDUFS2

Sources for Leigh Syndrome with Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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