MCID: LGH012
MIFTS: 26

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 55
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 55
Leigh Disease with Leukodystrophy 55

Characteristics:

Orphanet epidemiological data:

55
leigh syndrome with leukodystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA255241
ICD10 via Orphanet 33 G31.8

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 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 10.1 SLC19A3 SURF1
3 mitochondrial complex iv deficiency 10.1 PET100 SURF1 TACO1
4 leber hereditary optic neuropathy 9.4 FOXRED1 NDUFAF6 NDUFS1 NDUFS2 NDUFS4 NDUFS7
5 mitochondrial complex i deficiency 8.9 FOXRED1 MTFMT NDUFA10 NDUFAF6 NDUFS1 NDUFS2
6 mitochondrial metabolism disease 8.5 ECHS1 FOXRED1 MTFMT NDUFAF6 NDUFS1 NDUFS2
7 leigh syndrome 7.8 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

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

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.4 NDUFS7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.4 NDUFA10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.4 NDUFV2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.4 NDUFS1 NDUFS7 NDUFV1 NDUFV2 NDUFA10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.4 NDUFA10 NDUFS1 NDUFS7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.4 PDHA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.4 NDUFS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.4 PDHA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.4 NDUFS1 NDUFS7 NDUFV2 PDHA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.4 NDUFS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.4 NDUFA10 NDUFS1 NDUFV1 PDHA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.4 NDUFA10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.4 NDUFA10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.4 NDUFS7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.4 NDUFA10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.4 NDUFV2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.4 NDUFV2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.4 NDUFS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.4 PDHA1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.4 NDUFA10 NDUFS1 NDUFS7 NDUFV1 NDUFV2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.4 NDUFA10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.4 NDUFA10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.4 NDUFV1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.93 NDUFS7
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.93 NDUFA10 NDUFS1 NDUFS7 NDUFV1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.93 NDUFS1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.93 NDUFA10
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.93 NDUFV1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.93 NDUFA10 NDUFS1 NDUFS7 NDUFV1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.93 NDUFS1 NDUFS7 NDUFV1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.93 NDUFS1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.93 NDUFA10
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.93 NDUFA10
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.93 NDUFV1
35 Decreased shRNA abundance GR00297-A 9.81 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8

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:

38
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 9.4 NDUFS1 NDUFV2
5 respiratory chain GO:0070469 9.32 FOXRED1 NDUFA10 NDUFS1 NDUFS2 NDUFS3 NDUFS4
6 mitochondrion GO:0005739 10.09 ECHS1 FOXRED1 MTFMT NDUFA10 NDUFAF6 NDUFS1
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:

# 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 reactive oxygen species metabolic process GO:0072593 9.5 NDUFS1 NDUFS3 NDUFS4
5 tricarboxylic acid cycle GO:0006099 9.48 PDHA1 SDHA
6 cellular nitrogen compound metabolic process GO:0034641 9.46 LIPT1 PDHA1
7 mitochondrial respiratory chain complex IV assembly GO:0033617 9.43 PET100 SURF1
8 cellular respiration GO:0045333 9.43 NDUFS1 NDUFS3 NDUFS4
9 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.37 NDUFS2 NDUFV1
10 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 9.85 FOXRED1 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFS8
2 electron transfer activity GO:0009055 9.8 NDUFS1 NDUFS2 NDUFS3 NDUFV2 SDHA
3 4 iron, 4 sulfur cluster binding GO:0051539 9.77 NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1
4 iron-sulfur cluster binding GO:0051536 9.73 NDUFS1 NDUFS2 NDUFS7 NDUFS8 NDUFV1 NDUFV2
5 NADH dehydrogenase activity GO:0003954 9.62 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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