MCID: LGH012
MIFTS: 25

Leigh Syndrome with Leukodystrophy malady

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

Aliases & Classifications for Leigh Syndrome with Leukodystrophy

Aliases & Descriptions for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 56
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 56
Leigh Disease with Leukodystrophy 56

Characteristics:

Orphanet epidemiological data:

56
leigh syndrome with leukodystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA255241
ICD10 via Orphanet 34 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 spinal chordoma and hereditary breast ovarian cancer. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1), 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 phenotype is Increased shRNA abundance (Z-score > 2).

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.15 NDUFS7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.15 NDUFA10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.15 NDUFA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.15 NDUFA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.15 NDUFA9 NDUFA10 NDUFS1 NDUFS7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.15 NDUFA10 NDUFS7 NDUFS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.15 NDUFA9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.15 NDUFA2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.15 NDUFS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.15 NDUFS1 NDUFS7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.15 NDUFA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.15 NDUFS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.15 NDUFA10 NDUFA9 NDUFS1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.15 NDUFA10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.15 NDUFA10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.15 NDUFA2 NDUFS7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.15 NDUFA10
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.15 NDUFS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.15 NDUFA9 NDUFA10 NDUFS1 NDUFA2 NDUFS7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.15 NDUFA10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.15 NDUFA9
22 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.15 NDUFA10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.15 NDUFA9
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.15 NDUFA2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.15 NDUFA2
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.8 NDUFS7
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.8 NDUFA10 NDUFS7 NDUFS1
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 NDUFS7 NDUFS1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.8 NDUFS7 NDUFS1
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 GR00297-A 9.76 NDUFA4 NDUFS1 NDUFA13 NDUFA10 NDUFS8 NDUFS2

Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.97 ECHS1 LIPT1 NDUFA10 NDUFA9 NDUFS1 NDUFS2
2 mitochondrial respiratory chain complex I GO:0005747 9.77 FOXRED1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4
3 mitochondrial membrane GO:0031966 9.67 NDUFA13 NDUFA2 NDUFA9 NDUFS3
4 myelin sheath GO:0043209 9.58 NDUFA10 NDUFS1 NDUFS3
5 respiratory chain GO:0070469 9.44 FOXRED1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4
6 mitochondrion GO:0005739 10.21 ECHS1 FOXRED1 MTFMT NDUFA10 NDUFA12 NDUFA13
7 mitochondrial inner membrane GO:0005743 10 FOXRED1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 FOXRED1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4
2 reactive oxygen species metabolic process GO:0072593 9.65 NDUFA13 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
3 cellular respiration GO:0045333 9.62 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
4 response to oxidative stress GO:0006979 9.61 NDUFA12 NDUFS2 NDUFS8
5 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.4 NDUFA13 NDUFS3
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.4 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9
7 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.37 NDUFA12 NDUFS2
8 mitochondrial respiratory chain complex I assembly GO:0032981 10.03 FOXRED1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA9

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.95 FOXRED1 NDUFAF5 NDUFS1 NDUFS2 NDUFS3 NDUFS7
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.77 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9
3 iron-sulfur cluster binding GO:0051536 9.67 NDUFS1 NDUFS2 NDUFS7 NDUFS8
4 electron carrier activity GO:0009055 9.65 NDUFA12 NDUFAF2 NDUFS1 NDUFS2 NDUFS3
5 4 iron, 4 sulfur cluster binding GO:0051539 9.62 NDUFS1 NDUFS2 NDUFS7 NDUFS8
6 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.55 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS8
7 quinone binding GO:0048038 9.43 NDUFS2 NDUFS7
8 NADH dehydrogenase activity GO:0003954 9.1 NDUFA13 NDUFA9 NDUFS2 NDUFS3 NDUFS7 NDUFS8

Sources for Leigh Syndrome with Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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