MCID: LGH013
MIFTS: 27

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 brain, eye and liver, and related phenotypes are abnormality of eye movement and nystagmus

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

Human phenotypes related to Leigh Syndrome with Cardiomyopathy:

60 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 60 Frequent (79-30%)
2 nystagmus 60 Frequent (79-30%)
3 intellectual disability 60 Frequent (79-30%)
4 seizures 60 Frequent (79-30%)
5 ataxia 60 Frequent (79-30%)
6 spasticity 60 Frequent (79-30%)
7 muscle weakness 60 Frequent (79-30%)
8 failure to thrive 60 Frequent (79-30%)
9 dysphagia 60 Frequent (79-30%)
10 chorea 60 Occasional (29-5%)
11 developmental regression 60 Occasional (29-5%)
12 hearing impairment 60 Occasional (29-5%)
13 global developmental delay 60 Occasional (29-5%)
14 dyskinesia 60 Frequent (79-30%)
15 visual impairment 60 Occasional (29-5%)
16 optic atrophy 60 Occasional (29-5%)
17 hypertonia 60 Frequent (79-30%)
18 retinopathy 60 Occasional (29-5%)
19 abnormality of the cardiovascular system 60 Frequent (79-30%)
20 hypertrophic cardiomyopathy 60 Frequent (79-30%)
21 decreased liver function 60 Occasional (29-5%)
22 anemia 60 Occasional (29-5%)
23 peripheral neuropathy 60 Occasional (29-5%)
24 respiratory distress 60 Frequent (79-30%)
25 congestive heart failure 60 Frequent (79-30%)
26 neurodevelopmental delay 60 Frequent (79-30%)
27 abnormality of saccadic eye movements 60 Occasional (29-5%)
28 dystonia 60 Frequent (79-30%)
29 dilated cardiomyopathy 60 Frequent (79-30%)
30 abnormality of the renal tubule 60 Occasional (29-5%)
31 apnea 60 Frequent (79-30%)
32 ventriculomegaly 60 Frequent (79-30%)
33 increased serum lactate 60 Frequent (79-30%)
34 ophthalmoplegia 60 Occasional (29-5%)
35 mitral regurgitation 60 Occasional (29-5%)
36 respiratory failure 60 Frequent (79-30%)
37 mental deterioration 60 Frequent (79-30%)
38 pulmonic stenosis 60 Occasional (29-5%)
39 involuntary movements 60 Occasional (29-5%)
40 abnormality of the respiratory system 60 Frequent (79-30%)
41 abnormality of brainstem morphology 60 Frequent (79-30%)
42 diffuse white matter abnormalities 60 Occasional (29-5%)
43 renal agenesis 60 Occasional (29-5%)
44 poor suck 60 Frequent (79-30%)
45 leukodystrophy 60 Occasional (29-5%)
46 central hypoventilation 60 Frequent (79-30%)
47 renal tubular acidosis 60 Occasional (29-5%)
48 renal dysplasia 60 Occasional (29-5%)
49 bilateral ptosis 60 Occasional (29-5%)
50 increased csf lactate 60 Frequent (79-30%)

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
Brain, Eye, Liver, Heart, Cortex, Globus Pallidus, Thalamus

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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