Leigh Syndrome with Cardiomyopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LGH013 MIFTS: 27	Leigh Syndrome with Cardiomyopathy Categories: Cardiovascular diseases, Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Other specified degenerative diseases of nervous system

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³⁵ G31.8

Orphanet ⁶⁰ ORPHA70474

Sources

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

Sources

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:

Sources

Symptoms & Phenotypes for Leigh Syndrome with Cardiomyopathy

Human phenotypes related to Leigh Syndrome with Cardiomyopathy:

⁶⁰ (show top 50) (show all 65)

#	Description	Orphanet Frequency
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%)

Sources

Drugs & Therapeutics for Leigh Syndrome with Cardiomyopathy

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

Sources

Genetic Tests for Leigh Syndrome with Cardiomyopathy

Sources

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

Sources

Publications for Leigh Syndrome with Cardiomyopathy

Sources

Genes for Leigh Syndrome with Cardiomyopathy

Genes related to Leigh Syndrome with Cardiomyopathy (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NDUFS2	NADH:Ubiquinone Oxidoreductase Core Subunit S2	Protein Coding	350	Causative germline mutation ⁶⁰
2	SURF1	SURF1 Cytochrome C Oxidase Assembly Factor	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
3	NDUFB8	NADH:Ubiquinone Oxidoreductase Subunit B8	Protein Coding	350	Causative germline mutation ⁶⁰
4	NDUFAF3	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 3	Protein Coding	350	Causative germline mutation ⁶⁰
5	SCO2	SCO Cytochrome C Oxidase Assembly Protein 2	Protein Coding	25	Candidate gene tested ⁶⁰

Sources

Variations for Leigh Syndrome with Cardiomyopathy

Sources

Expression for Leigh Syndrome with Cardiomyopathy

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

Sources

Pathways for Leigh Syndrome with Cardiomyopathy

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁷ Show member pathways Metabolic pathways ³⁸ Metabolism of lipids and lipoproteins ⁶⁷	13.2	NDUFAF3 NDUFB8 NDUFS2 SCO2 SURF1
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁷ Show member pathways Alzheimer disease ³⁸ Alzheimers Disease ¹ Complex I biogenesis ⁶⁷ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁷ Huntington disease ³⁸ Non-alcoholic fatty liver disease (NAFLD) ³⁸ Oxidative phosphorylation ¹ Oxidative phosphorylation ³⁸ Parkinson disease ³⁸ Respiratory electron transport ⁶⁷ The citric acid (TCA) cycle and respiratory electron transport ⁶⁷ Thermogenesis ³⁸	12.28	NDUFAF3 NDUFB8 NDUFS2 SCO2 SURF1
3	TP53 Regulates Metabolic Genes ⁶⁷	10.89	SCO2 SURF1

Sources

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

Sources for Leigh Syndrome with Cardiomyopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia