MCID: LGH012
MIFTS: 36

Leigh Syndrome with Leukodystrophy

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

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:



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

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:



Diseases related to Leigh Syndrome with Leukodystrophy

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

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

Genetic Tests for Leigh Syndrome with Leukodystrophy

Anatomical Context for Leigh Syndrome with Leukodystrophy

MalaCards organs/tissues related to Leigh Syndrome with Leukodystrophy:

42
Eye

Publications for Leigh Syndrome with Leukodystrophy

Variations for Leigh Syndrome with Leukodystrophy

Expression for Leigh Syndrome with Leukodystrophy

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

Pathways for Leigh Syndrome with Leukodystrophy

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 myelin sheath GO:0043209 9.77 NDUFS1 NDUFS3 NDUFV2 PDHA1 SDHA
3 mitochondrial respiratory chain complex I GO:0005747 9.65 FOXRED1 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4
4 mitochondrial respiratory chain GO:0005746 9.43 COX15 SURF1
5 respiratory chain GO:0070469 9.32 FOXRED1 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4
6 membrane GO:0016020 10.31 COX15 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5 NDUFAF6
7 mitochondrion GO:0005739 10.23 COX15 ECHS1 FOXRED1 NDUFA12 NDUFAF2 NDUFAF5
8 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

Sources for Leigh Syndrome with Leukodystrophy

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10 dbSNP
11 DGIdb
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18 ExPASy
20 FMA
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75 UMLS via Orphanet
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