MCID: LGH013
MIFTS: 30

Leigh Syndrome with Cardiomyopathy

Categories: Cardiovascular diseases, Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leigh Syndrome with Cardiomyopathy

MalaCards integrated aliases for Leigh Syndrome with Cardiomyopathy:

Name: Leigh Syndrome with Cardiomyopathy 58
Cardiomyopathy with Hypotonia Due to Cytochrome C Oxidase Deficiency 58
Cardiomyopathy with Myopathy Due to Cox Deficiency 58
Leigh Disease with Myopathy 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


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 lactic acidosis 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, globus pallidus and caudate nucleus, and related phenotypes are intellectual disability and seizure

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

MGI Mouse Phenotypes related to Leigh Syndrome with Cardiomyopathy:

45
# 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

Organs/tissues related to Leigh Syndrome with Cardiomyopathy:

MalaCards : Eye, Globus Pallidus, Caudate Nucleus, Thalamus, Brain, Cortex, Liver

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 mitochondrial matrix GO:0005759 9.8 SCO2 NDUFS2 NDUFB8
2 mitochondrion GO:0005739 9.61 SURF1 SCO2 NDUFS2 NDUFB8 NDUFAF3
3 mitochondrial respiratory chain complex I GO:0005747 9.56 NDUFS2 NDUFB8
4 mitochondrial inner membrane GO:0005743 9.23 SURF1 SCO2 NDUFS2 NDUFB8 NDUFAF3
5 respirasome GO:0070469 9.16 NDUFS2 NDUFB8

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

# Name GO ID Score Top Affiliating Genes
1 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.71 NDUFS2 NDUFB8
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.62 NDUFS2 NDUFB8
3 mitochondrial cytochrome c oxidase assembly GO:0033617 9.56 SURF1 SCO2
4 electron transport chain GO:0022900 9.54 SURF1 NDUFS2
5 aerobic respiration GO:0009060 9.43 SURF1 NDUFS2 NDUFB8
6 respiratory chain complex IV assembly GO:0008535 9.33 SURF1 SCO2
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.1 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 8.92 NDUFS2 NDUFB8

Sources for Leigh Syndrome with Cardiomyopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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