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

MCID: LGH012 MIFTS: 35	Leigh Syndrome with Leukodystrophy Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Leigh Syndrome with Leukodystrophy

MalaCards integrated aliases for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy ⁶⁰

Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy ⁶⁰

Leigh Disease with Leukodystrophy ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

leigh syndrome with leukodystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Eye 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 ORPHA255241

SNOMED-CT via HPO ⁷⁰ 1023001 103276001 11934000 more

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Summaries for Leigh Syndrome with Leukodystrophy

MalaCards based summary : Leigh Syndrome with Leukodystrophy, also known as infantile subacute necrotizing encephalopathy with leukodystrophy, is related to comedo carcinoma and dysphagia. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12), 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, and related phenotypes are focal t2 hyperintense basal ganglia lesion and ptosis

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Related Diseases for Leigh Syndrome with Leukodystrophy

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

#	Related Disease	Score	Top Affiliating Genes
1	comedo carcinoma	10.3	NDUFS3 NDUFS4
2	dysphagia	10.2	NDUFA12 NDUFAF2 NDUFS8
3	cardioencephalomyopathy	10.2	COX15 SURF1
4	mitochondrial complex iv deficiency	10.1	COX15 SURF1 TACO1
5	rubeosis iridis	10.0	NDUFS4 NDUFS7
6	leber hereditary optic neuropathy	9.4	FOXRED1 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2
7	mitochondrial metabolism disease	8.7	COX15 ECHS1 FOXRED1 NDUFAF2 NDUFAF5 NDUFAF6
8	leigh syndrome	8.1	COX15 ECHS1 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5

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

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Symptoms & Phenotypes for Leigh Syndrome with Leukodystrophy

Human phenotypes related to Leigh Syndrome with Leukodystrophy:

⁶⁰ ³³ (show all 33)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	focal t2 hyperintense basal ganglia lesion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007183
2	ptosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000508
3	nystagmus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000639
4	emotional lability ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000712
5	seizures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001250
6	muscular hypotonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001252
7	dysarthria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001260
8	hyperreflexia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001347
9	failure to thrive ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001508
10	global developmental delay ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001263
11	optic atrophy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000648
12	intellectual disability, severe ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0010864
13	hypertrophic cardiomyopathy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001639
14	peripheral neuropathy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009830
15	strabismus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000486
16	dystonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001332
17	apnea ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002104
18	increased serum lactate ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002151
19	ophthalmoplegia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000602
20	ventricular septal defect ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001629
21	progressive cerebellar ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002073
22	progressive spastic paraplegia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007020
23	leukodystrophy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002415
24	pigmentary retinopathy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000580
25	increased csf lactate ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002490
26	hypertrichosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000998
27	decreased activity of the pyruvate dehydrogenase complex ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002928
28	decreased activity of mitochondrial respiratory chain ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008972
29	hearing impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000365
30	anemia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001903
31	spasticity ⁶⁰		Frequent (79-30%)
32	abnormality of movement ⁶⁰		Frequent (79-30%)
33	acidosis ⁶⁰		Occasional (29-5%)

GenomeRNAi Phenotypes related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

²⁷ (show all 26)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	10.24	NDUFS7
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.24	NDUFV2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	10.24	NDUFS1 NDUFS7 NDUFV1 NDUFV2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	10.24	NDUFS1 NDUFS7 NDUFV1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	10.24	NDUFS1 NDUFS7
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	10.24	PDHA1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	10.24	NDUFS1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.24	PDHA1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.24	NDUFS1 NDUFS7 NDUFV2 PDHA1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	10.24	NDUFS1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.24	NDUFS1 NDUFV1 PDHA1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.24	NDUFS7
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	10.24	NDUFV1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.24	NDUFV2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	10.24	NDUFV2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.24	NDUFS1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.24	PDHA1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	10.24	NDUFS1 NDUFS7 NDUFV1 NDUFV2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	10.24	NDUFV1
20	Decreased shRNA abundance	GR00297-A	9.76	NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8 NDUFV1
21	Decreased shRNA abundance (Z-score < -2)	GR00366-A-111	9.65	NDUFS7
22	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.65	NDUFS1
23	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	9.65	NDUFS1 NDUFS7 NDUFV1
24	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.65	NDUFS1 NDUFS7 NDUFV1
25	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.65	NDUFS1
26	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	9.65	NDUFV1

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Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Leigh Syndrome with Leukodystrophy

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Genetic Tests for Leigh Syndrome with Leukodystrophy

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Anatomical Context for Leigh Syndrome with Leukodystrophy

MalaCards organs/tissues related to Leigh Syndrome with Leukodystrophy:

⁴²

Eye

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Publications for Leigh Syndrome with Leukodystrophy

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Genes for Leigh Syndrome with Leukodystrophy

Genes related to Leigh Syndrome with Leukodystrophy (28 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NDUFA12	NADH:Ubiquinone Oxidoreductase Subunit A12	Protein Coding	350	Causative germline mutation ⁶⁰
2	NDUFV1	NADH:Ubiquinone Oxidoreductase Core Subunit V1	Protein Coding	350	Causative germline mutation ⁶⁰
3	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	350	Causative germline mutation ⁶⁰
4	SLC19A3	Solute Carrier Family 19 Member 3	Protein Coding	350	Causative germline mutation ⁶⁰
5	SURF1	SURF1 Cytochrome C Oxidase Assembly Factor	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
6	COX15	Cytochrome C Oxidase Assembly Homolog COX15	Protein Coding	350	Causative germline mutation ⁶⁰
7	NDUFAF2	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2	Protein Coding	350	Causative germline mutation ⁶⁰
8	NDUFS1	NADH:Ubiquinone Oxidoreductase Core Subunit S1	Protein Coding	350	Causative germline mutation ⁶⁰
9	NDUFS2	NADH:Ubiquinone Oxidoreductase Core Subunit S2	Protein Coding	350	Causative germline mutation ⁶⁰
10	NDUFS3	NADH:Ubiquinone Oxidoreductase Core Subunit S3	Protein Coding	350	Causative germline mutation ⁶⁰
11	NDUFS4	NADH:Ubiquinone Oxidoreductase Subunit S4	Protein Coding	350	Causative germline mutation ⁶⁰
12	NDUFS7	NADH:Ubiquinone Oxidoreductase Core Subunit S7	Protein Coding	350	Causative germline mutation ⁶⁰
13	NDUFS8	NADH:Ubiquinone Oxidoreductase Core Subunit S8	Protein Coding	350	Causative germline mutation ⁶⁰
14	NDUFV2	NADH:Ubiquinone Oxidoreductase Core Subunit V2	Protein Coding	350	Causative germline mutation ⁶⁰
15	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	350	Causative germline mutation ⁶⁰
16	PDHA1	Pyruvate Dehydrogenase E1 Alpha 1 Subunit	Protein Coding	350	Causative germline mutation ⁶⁰
17	NDUFAF5	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5	Protein Coding	350	Causative germline mutation ⁶⁰
18	NDUFAF6	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6	Protein Coding	350	Causative germline mutation ⁶⁰
19	TACO1	Translational Activator Of Cytochrome C Oxidase I	Protein Coding	350	Causative germline mutation ⁶⁰
20	FOXRED1	FAD Dependent Oxidoreductase Domain Containing 1	Protein Coding	350	Causative germline mutation ⁶⁰
21	NDUFA2	NADH:Ubiquinone Oxidoreductase Subunit A2	Protein Coding	350	Causative germline mutation ⁶⁰
22	NDUFA10	NADH:Ubiquinone Oxidoreductase Subunit A10	Protein Coding	350	Causative germline mutation ⁶⁰
23	NDUFA9	NADH:Ubiquinone Oxidoreductase Subunit A9	Protein Coding	350	Causative germline mutation ⁶⁰
24	MTFMT	Mitochondrial Methionyl-TRNA Formyltransferase	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
25	LIPT1	Lipoyltransferase 1	Protein Coding	350	Causative germline mutation ⁶⁰
26	PET100	PET100 Cytochrome C Oxidase Chaperone	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
27	NDUFA4	NDUFA4 Mitochondrial Complex Associated	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
28	NDUFA13	NADH:Ubiquinone Oxidoreductase Subunit A13	Protein Coding	350	Causative germline mutation ⁶⁰

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Variations for Leigh Syndrome with Leukodystrophy

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Expression for Leigh Syndrome with Leukodystrophy

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

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Pathways for Leigh Syndrome with Leukodystrophy

Pathways related to Leigh Syndrome with Leukodystrophy 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	13.58	COX15 ECHS1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6
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	12.81	COX15 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1
3	GABAergic synapse ³⁸ Show member pathways Morphine addiction ³⁸ Retrograde endocannabinoid signaling ³⁸	12.32	NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7
4	Metformin Pathway, Pharmacodynamics ⁶²	11.11	NDUFS1 NDUFS2 NDUFS4 NDUFV1
5	Doxorubicin Pathway, Pharmacokinetics ⁶² Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶²	11.1	NDUFS2 NDUFS3 NDUFS7

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GO Terms for Leigh Syndrome with Leukodystrophy

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

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:0005759	9.87	ECHS1 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
2	mitochondrial respiratory chain complex I	GO:0005747	9.65	FOXRED1 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4
3	mitochondrial respiratory chain	GO:0005746	9.4	COX15 SURF1
4	respiratory chain	GO:0070469	9.32	FOXRED1 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4
5	membrane	GO:0016020	10.27	COX15 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6
6	mitochondrion	GO:0005739	10.23	COX15 ECHS1 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5
7	mitochondrial inner membrane	GO:0005743	10	COX15 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex I assembly	GO:0032981	9.77	FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1
2	electron transport chain	GO:0022900	9.71	NDUFA12 NDUFS4 SDHA SURF1
3	response to oxidative stress	GO:0006979	9.67	NDUFA12 NDUFS2 NDUFS8
4	reactive oxygen species metabolic process	GO:0072593	9.62	NDUFAF2 NDUFS1 NDUFS3 NDUFS4
5	aerobic respiration	GO:0009060	9.61	NDUFS7 NDUFS8 SURF1
6	cellular respiration	GO:0045333	9.56	COX15 NDUFAF2 NDUFS1 NDUFS4
7	mitochondrial ATP synthesis coupled electron transport	GO:0042775	9.54	NDUFA12 NDUFS2 NDUFV1
8	respiratory gaseous exchange	GO:0007585	9.52	COX15 NDUFA12
9	tricarboxylic acid cycle	GO:0006099	9.51	PDHA1 SDHA
10	respiratory electron transport chain	GO:0022904	9.48	NDUFAF2 SDHA
11	respiratory chain complex IV assembly	GO:0008535	9.46	COX15 SURF1
12	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.23	NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8
13	oxidation-reduction process	GO:0055114	10.03	COX15 FOXRED1 NDUFA12 NDUFAF5 NDUFS1 NDUFS2

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.9	FOXRED1 NDUFAF5 NDUFS1 NDUFS2 NDUFS3 NDUFS7
2	electron transfer activity	GO:0009055	9.87	NDUFA12 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFV2
3	iron-sulfur cluster binding	GO:0051536	9.85	NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1 NDUFV2
4	4 iron, 4 sulfur cluster binding	GO:0051539	9.8	NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1
5	NADH dehydrogenase activity	GO:0003954	9.65	NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
6	NAD binding	GO:0051287	9.51	NDUFS2 NDUFV1
7	cytochrome-c oxidase activity	GO:0004129	9.49	COX15 SURF1
8	oxidoreductase activity, acting on the CH-CH group of donors	GO:0016627	9.48	COX15 SDHA
9	2 iron, 2 sulfur cluster binding	GO:0051537	9.46	NDUFS1 NDUFV2
10	quinone binding	GO:0048038	9.43	NDUFS2 NDUFS7
11	oxidoreductase activity, acting on NAD(P)H	GO:0016651	9.43	NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS8 NDUFV1
12	NADH dehydrogenase (ubiquinone) activity	GO:0008137	9.32	NDUFA12 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFS4

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