MCID: LGH013
MIFTS: 29

Leigh Syndrome with Cardiomyopathy

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

Aliases & Classifications for Leigh Syndrome with Cardiomyopathy

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 neuropathy, ataxia, and retinitis pigmentosa. An important gene associated with Leigh Syndrome with Cardiomyopathy is NDUFAF3 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 3), 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, brain and cortex, and related phenotypes are intellectual disability and spasticity

Related Diseases for Leigh Syndrome with Cardiomyopathy

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:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
8 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
9 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
10 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
11 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
12 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
13 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
14 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
15 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
16 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
17 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
18 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
19 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
20 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
21 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
22 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
23 central hypoventilation 58 31 frequent (33%) Frequent (79-30%) HP:0007110
24 abnormality of the cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0002538
25 fluctuations in consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007159
26 global brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002283
27 limited extraocular movements 58 31 frequent (33%) Frequent (79-30%) HP:0007941
28 basal ganglia gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0006999
29 seizure 31 frequent (33%) HP:0001250
30 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
31 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
32 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
33 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
34 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
35 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
36 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
37 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
38 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
39 abnormal renal tubule morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000091
40 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
41 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
42 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
43 leukodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002415
44 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
45 renal tubular acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001947
46 renal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000110
47 decreased liver function 58 31 occasional (7.5%) Occasional (29-5%) HP:0001410
48 diffuse white matter abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0007204
49 cardiac conduction abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0031546
50 abnormality of thalamus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010663

MGI Mouse Phenotypes related to Leigh Syndrome with Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 NDUFB8 NDUFS2 SCO2 SURF1

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:

40
Eye, Brain, Cortex, Heart, Liver, 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 SURF1 SCO2 NDUFS2 NDUFB8 NDUFAF3
2 mitochondrial matrix GO:0005759 9.33 SCO2 NDUFS2 NDUFB8
3 respiratory chain GO:0070469 9.32 NDUFS2 NDUFB8
4 mitochondrial respiratory chain complex I GO:0005747 9.26 NDUFS2 NDUFB8
5 mitochondrial inner membrane GO:0005743 9.02 SURF1 SCO2 NDUFS2 NDUFB8 NDUFAF3

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 SURF1 SCO2 NDUFS2 NDUFB8
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.32 NDUFS2 NDUFB8
3 mitochondrial respiratory chain complex IV assembly GO:0033617 9.26 SURF1 SCO2
4 respiratory chain complex IV assembly GO:0008535 8.96 SURF1 SCO2
5 mitochondrial respiratory chain complex I assembly GO:0032981 8.8 NDUFS2 NDUFB8 NDUFAF3

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 8.96 NDUFS2 NDUFB8
2 NADH dehydrogenase activity GO:0003954 8.62 NDUFS2 NDUFB8

Sources for Leigh Syndrome with Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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