MCID: LGH012
MIFTS: 35

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 59
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 59
Leigh Disease with Leukodystrophy 59

Characteristics:

Orphanet epidemiological data:

59
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 cardioencephalomyopathy. 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 ptosis and nystagmus

Related Diseases for Leigh Syndrome with Leukodystrophy

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
8 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
11 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
12 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
13 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
14 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
15 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
16 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
17 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
18 apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002104
19 increased serum lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002151
20 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
21 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
22 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
23 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
24 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
25 pigmentary retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000580
26 increased csf lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002490
27 focal t2 hyperintense basal ganglia lesion 59 32 hallmark (90%) Very frequent (99-80%) HP:0007183
28 hypertrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0000998
29 decreased activity of the pyruvate dehydrogenase complex 59 32 frequent (33%) Frequent (79-30%) HP:0002928
30 decreased activity of mitochondrial respiratory chain 59 32 frequent (33%) Frequent (79-30%) HP:0008972
31 spasticity 59 Frequent (79-30%)
32 abnormality of movement 59 Frequent (79-30%)
33 acidosis 59 Occasional (29-5%)

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.2 NDUFS7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.2 NDUFV2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.2 NDUFS1 NDUFS7 NDUFV1 NDUFV2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.2 NDUFS1 NDUFS7
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.2 PDHA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.2 NDUFS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.2 PDHA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.2 NDUFS1 NDUFS7 NDUFV2 PDHA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.2 NDUFS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.2 NDUFS1 NDUFV1 PDHA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.2 NDUFS7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.2 NDUFV1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.2 NDUFV2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.2 NDUFV2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.2 NDUFS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.2 PDHA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.2 NDUFS1 NDUFS7 NDUFV1 NDUFV2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.2 NDUFV1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.77 NDUFS7
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.77 NDUFS1 NDUFS7 NDUFV1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.77 NDUFS1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.77 NDUFS1 NDUFS7 NDUFV1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.77 NDUFS1 NDUFS7 NDUFV1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.77 NDUFS1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.77 NDUFV1
26 Decreased shRNA abundance GR00297-A 9.76 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8 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:

41
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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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