MCID: LGH012
MIFTS: 34

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 58
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 58
Leigh Disease with Leukodystrophy 58

Characteristics:

Orphanet epidemiological data:

58
leigh syndrome with leukodystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

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


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 multiple mitochondrial dysfunctions syndrome 1 and mitochondrial dna depletion syndrome 9. An important gene associated with Leigh Syndrome with Leukodystrophy is COX15 (Cytochrome C Oxidase Assembly Homolog COX15), and among its related pathways/superpathways are Metabolism and Parkinson disease. Affiliated tissues include eye, and related phenotypes are focal t2 hyperintense basal ganglia lesion and global developmental delay

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 focal t2 hyperintense basal ganglia lesion 58 31 hallmark (90%) Very frequent (99-80%) HP:0007183
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
7 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
8 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
12 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
13 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
14 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
15 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
16 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
17 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
18 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
19 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
20 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
21 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
22 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
23 decreased activity of mitochondrial respiratory chain 58 31 frequent (33%) Frequent (79-30%) HP:0008972
24 pigmentary retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000580
25 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
26 hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0000998
27 decreased activity of the pyruvate dehydrogenase complex 58 31 frequent (33%) Frequent (79-30%) HP:0002928
28 seizure 31 frequent (33%) HP:0001250
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
30 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
31 seizures 58 Frequent (79-30%)
32 spasticity 58 Frequent (79-30%)
33 abnormality of movement 58 Frequent (79-30%)
34 acidosis 58 Occasional (29-5%)

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

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 10.7 NDUFA10 NDUFS1 NDUFS7 NDUFA9
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.7 NDUFA10 NDUFS1 NDUFS7 NDUFA9
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.7 NDUFA2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.7 NDUFS1 NDUFS7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.7 NDUFA10 NDUFS1 NDUFA9
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.7 NDUFS7 NDUFA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.7 NDUFA2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.7 NDUFA10 NDUFS1 NDUFS7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.7 NDUFS1 NDUFS7 NDUFA9
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.7 NDUFS1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.7 NDUFA10 NDUFS1 NDUFS7 NDUFA2 NDUFA9
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.7 NDUFA10
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.7 NDUFA9
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.7 NDUFA9
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 10.7 NDUFA2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.7 NDUFA9
17 Decreased viability GR00240-S-1 10 NDUFS3 NDUFS8
18 Decreased viability GR00249-S 10 NDUFS3 NDUFS8
19 Decreased viability GR00381-A-1 10 NDUFAF5
20 Decreased viability GR00386-A-1 10 ECHS1 LIPT1 NDUFA10 NDUFS2 NDUFS3
21 Decreased viability GR00402-S-2 10 FOXRED1 MTFMT NDUFA13 NDUFS3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.96 NDUFS7
23 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.96 NDUFA10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.96 NDUFS7
25 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.96 NDUFA10 NDUFS1 NDUFS7
26 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.96 NDUFA9
27 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.96 NDUFS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.96 NDUFS1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.96 NDUFS1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.96 NDUFA10
31 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.96 NDUFA10
32 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.96 NDUFA10
33 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.96 NDUFA10
34 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.96 NDUFA9
35 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.96 NDUFS1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.96 NDUFA10
37 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.96 NDUFA10
38 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.96 NDUFA10
39 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.96 NDUFA9
40 Decreased shRNA abundance GR00297-A 9.92 NDUFA10 NDUFA13 NDUFA4 NDUFS1 NDUFS2 NDUFS3
41 Increased the percentage of infected cells GR00402-S-1 8.32 NDUFAF2

MGI Mouse Phenotypes related to Leigh Syndrome with Leukodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 COX15 FOXRED1 LIPT1 MTFMT NDUFA10 NDUFA13

Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

Search Clinical Trials , 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:

40
Eye

Publications for Leigh Syndrome with Leukodystrophy

Articles related to Leigh Syndrome with Leukodystrophy:

# Title Authors PMID Year
1
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency 6
31219693 2019
2
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 6
26251176 2015
3
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 6
25393721 2015
4
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 6
25125611 2014

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 respiratory chain GO:0070469 10.07 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
2 mitochondrial matrix GO:0005759 9.97 NDUFS8 NDUFS7 NDUFS3 NDUFS2 NDUFS1 NDUFA9
3 mitochondrial respiratory chain complex I GO:0005747 9.97 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
4 mitochondrial inner membrane GO:0005743 9.8 NDUFS4 NDUFS3 NDUFS2 NDUFS1 NDUFAF6 NDUFAF5
5 mitochondrial membrane GO:0031966 9.77 NDUFS3 NDUFA9 NDUFA2 NDUFA13 COX15
6 mitochondrion GO:0005739 9.62 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
7 mitochondrial respiratory chain GO:0005746 9.4 NDUFA13 COX15

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.93 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
2 oxidation-reduction process GO:0055114 9.83 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
3 reactive oxygen species metabolic process GO:0072593 9.65 NDUFS4 NDUFS3 NDUFS1 NDUFAF2 NDUFA13
4 cellular respiration GO:0045333 9.62 NDUFS4 NDUFS1 NDUFAF2 COX15
5 response to oxidative stress GO:0006979 9.61 NDUFS8 NDUFS2 NDUFA12
6 mitochondrial respiratory chain complex I assembly GO:0032981 9.5 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
7 respiratory gaseous exchange GO:0007585 9.49 NDUFA12 COX15
8 aerobic respiration GO:0009060 9.48 NDUFS8 NDUFS7
9 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.46 NDUFS3 NDUFA13
10 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.4 NDUFA4 COX15
11 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.37 NDUFS2 NDUFA12

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.95 NDUFS8 NDUFS7 NDUFS3 NDUFS2 NDUFS1 NDUFAF5
2 iron-sulfur cluster binding GO:0051536 9.67 NDUFS8 NDUFS7 NDUFS2 NDUFS1
3 electron transfer activity GO:0009055 9.65 NDUFS3 NDUFS2 NDUFS1 NDUFAF2 NDUFA12
4 4 iron, 4 sulfur cluster binding GO:0051539 9.62 NDUFS8 NDUFS7 NDUFS2 NDUFS1
5 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.55 NDUFS8 NDUFS4 NDUFS3 NDUFS2 NDUFS1
6 NADH dehydrogenase activity GO:0003954 9.5 NDUFS8 NDUFS7 NDUFS3 NDUFS2 NDUFS1 NDUFA9
7 cytochrome-c oxidase activity GO:0004129 9.46 NDUFA4 COX15
8 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.44 NDUFS8 NDUFS7 NDUFS4 NDUFS3 NDUFS2 NDUFS1
9 quinone binding GO:0048038 9.43 NDUFS7 NDUFS2

Sources for Leigh Syndrome with Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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