MCID: LGH012
MIFTS: 35

Leigh Syndrome with Leukodystrophy

Categories: Neuronal diseases, Eye diseases, Metabolic 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 mitochondrial complex iv deficiency. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8), 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 strabismus

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 10.4 NDUFS3 NDUFS4
2 mitochondrial complex iv deficiency 9.9 PET100 SURF1 TACO1
3 mitochondrial metabolism disease 9.7 NDUFAF6 NDUFS1 NDUFS4 NDUFS8 NDUFV1 SURF1
4 leber hereditary optic neuropathy 9.3 FOXRED1 NDUFAF6 NDUFS1 NDUFS2 NDUFS4 NDUFS7
5 mitochondrial complex i deficiency 8.2 FOXRED1 MTFMT NDUFA10 NDUFAF6 NDUFS1 NDUFS2
6 leigh syndrome 6.5 ECHS1 FOXRED1 MTFMT NDUFA10 NDUFAF6 NDUFS1

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 focal t2 hyperintense basal ganglia lesion 59 32 hallmark (90%) Very frequent (99-80%) HP:0007183
2 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 pigmentary retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000580
5 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
6 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
7 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
8 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
9 hypertrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0000998
10 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
11 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
12 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
13 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
14 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
15 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
16 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
17 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
18 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
19 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
20 apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002104
21 increased serum lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002151
22 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
23 increased csf lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002490
24 decreased activity of the pyruvate dehydrogenase complex 59 32 frequent (33%) Frequent (79-30%) HP:0002928
25 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
26 decreased activity of mitochondrial respiratory chain 59 32 frequent (33%) Frequent (79-30%) HP:0008972
27 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
28 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
29 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
30 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
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 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.46 NDUFS7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.46 NDUFA10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.46 NDUFV2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.46 NDUFS7 NDUFV1 NDUFA10 NDUFV2 NDUFS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.46 NDUFS7 NDUFV1 NDUFA10 NDUFS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.46 NDUFS7 NDUFA10 NDUFS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.46 PDHA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.46 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.46 PDHA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.46 NDUFS7 NDUFV2 NDUFS1 PDHA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.46 NDUFS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.46 NDUFV1 NDUFA10 NDUFS1 PDHA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.46 NDUFA10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.46 NDUFA10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.46 NDUFS7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.46 NDUFA10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.46 NDUFV1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.46 NDUFV2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.46 NDUFV2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.46 NDUFS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.46 PDHA1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.46 NDUFS1 NDUFS7 NDUFV1 NDUFV2 NDUFA10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.46 NDUFA10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.46 NDUFA10
25 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.46 NDUFV1
26 Decreased shRNA abundance GR00297-A 9.81 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.8 NDUFS7
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.8 NDUFS1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.8 NDUFA10
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.8 NDUFA10 NDUFS1 NDUFS7 NDUFV1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.8 NDUFS1 NDUFS7 NDUFV1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.8 NDUFS1
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.8 NDUFA10
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.8 NDUFA10
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.8 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 9.97 ECHS1 LIPT1 NDUFA10 NDUFS1 NDUFS2 NDUFS3
2 myelin sheath GO:0043209 9.85 NDUFA10 NDUFS1 NDUFS3 NDUFV2 PDHA1 SDHA
3 mitochondrial respiratory chain complex I GO:0005747 9.65 FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
4 plasma membrane respiratory chain complex I GO:0045272 9.58 NDUFS1 NDUFS7 NDUFV2
5 respiratory chain GO:0070469 9.32 FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
6 mitochondrion GO:0005739 10.11 ECHS1 FOXRED1 LIPT1 MTFMT NDUFA10 NDUFAF6
7 mitochondrial inner membrane GO:0005743 10.03 FOXRED1 NDUFA10 NDUFAF6 NDUFS1 NDUFS2 NDUFS3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.7 FOXRED1 NDUFA10 NDUFAF6 NDUFS1 NDUFS2 NDUFS3
3 electron transport chain GO:0022900 9.58 NDUFS4 SDHA SURF1
4 aerobic respiration GO:0009060 9.51 NDUFS7 SURF1
5 reactive oxygen species metabolic process GO:0072593 9.5 NDUFS1 NDUFS3 NDUFS4
6 tricarboxylic acid cycle GO:0006099 9.49 PDHA1 SDHA
7 cellular nitrogen compound metabolic process GO:0034641 9.48 LIPT1 PDHA1
8 respiratory electron transport chain GO:0022904 9.46 NDUFV2 SDHA
9 mitochondrial respiratory chain complex IV assembly GO:0033617 9.43 PET100 SURF1
10 cellular respiration GO:0045333 9.43 NDUFS1 NDUFS3 NDUFS4
11 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.37 NDUFS2 NDUFV1
12 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.28 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7

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 9.96 FOXRED1 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
2 electron transfer activity GO:0009055 9.8 NDUFS1 NDUFS2 NDUFS3 NDUFV2 SDHA
3 iron-sulfur cluster binding GO:0051536 9.8 NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1 NDUFV2
4 4 iron, 4 sulfur cluster binding GO:0051539 9.77 NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1
5 NADH dehydrogenase activity GO:0003954 9.55 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
6 2 iron, 2 sulfur cluster binding GO:0051537 9.46 NDUFS1 NDUFV2
7 quinone binding GO:0048038 9.43 NDUFS2 NDUFS7
8 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.43 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS8 NDUFV1
9 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.28 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7

Sources for Leigh Syndrome with Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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