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

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 54
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 54
 
Leigh Disease with Leukodystrophy 54

Characteristics:

Orphanet epidemiological data:

54
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA255241
ICD10 via Orphanet31 G31.8

Summaries for Leigh Syndrome with Leukodystrophy

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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 are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance.

Related Diseases for Leigh Syndrome with Leukodystrophy

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Graphical network of diseases related to Leigh Syndrome with Leukodystrophy:



Diseases related to leigh syndrome with leukodystrophy

Symptoms & Phenotypes for Leigh Syndrome with Leukodystrophy

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.7NDUFA10, NDUFS1, NDUFS7
2GR00251-A-29.6NDUFA10, NDUFA13, NDUFA4, NDUFS1, NDUFS2, NDUFS3
3GR00366-A-1929.0NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS7, NDUFA10

Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Leigh Syndrome with Leukodystrophy

Genetic Tests for Leigh Syndrome with Leukodystrophy

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Anatomical Context for Leigh Syndrome with Leukodystrophy

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MalaCards organs/tissues related to Leigh Syndrome with Leukodystrophy:

36
Eye

Publications for Leigh Syndrome with Leukodystrophy

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Variations for Leigh Syndrome with Leukodystrophy

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Expression for genes affiliated with Leigh Syndrome with Leukodystrophy

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Search GEO for disease gene expression data for Leigh Syndrome with Leukodystrophy.

Pathways for genes affiliated with Leigh Syndrome with Leukodystrophy

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GO Terms for genes affiliated with Leigh Syndrome with Leukodystrophy

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Cellular components related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:004320910.5NDUFA10, NDUFS1, NDUFS3
2mitochondrial membraneGO:003196610.3NDUFA13, NDUFA2, NDUFA9, NDUFS3
3mitochondrial matrixGO:00057599.6ECHS1, LIPT1, NDUFA10, NDUFA9, NDUFS1, NDUFS2
4mitochondrial respiratory chain complex IGO:00057478.6FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4
5mitochondrial inner membraneGO:00057438.3FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4
6respiratory chainGO:00704697.9FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4
7mitochondrionGO:00057397.4ECHS1, FOXRED1, MTFMT, NDUFA10, NDUFA12, NDUFA13

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial ATP synthesis coupled electron transportGO:004277510.8NDUFA12, NDUFS2
2negative regulation of intrinsic apoptotic signaling pathwayGO:200124310.7NDUFA13, NDUFS3
3cellular respirationGO:004533310.5NDUFAF2, NDUFS1, NDUFS3, NDUFS4
4reactive oxygen species metabolic processGO:007259310.0NDUFA13, NDUFAF2, NDUFS1, NDUFS3, NDUFS4
5response to oxidative stressGO:00069799.9NDUFA12, NDUFS2, NDUFS8
6mitochondrial electron transport, NADH to ubiquinoneGO:00061208.9NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9
7oxidation-reduction processGO:00551148.2FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4
8mitochondrial respiratory chain complex I assemblyGO:00329818.0FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA9

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
14 iron, 4 sulfur cluster bindingGO:005153910.5NDUFS1, NDUFS2, NDUFS7, NDUFS8
2iron-sulfur cluster bindingGO:005153610.5NDUFS1, NDUFS2, NDUFS7, NDUFS8
3electron carrier activityGO:000905510.2NDUFA12, NDUFAF2, NDUFS1, NDUFS2, NDUFS3
4quinone bindingGO:004803810.1NDUFS2, NDUFS7
5NADH dehydrogenase activityGO:000395410.0NDUFA13, NDUFA9, NDUFS2, NDUFS3, NDUFS7, NDUFS8
6oxidoreductase activity, acting on NAD(P)HGO:00166519.9NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS8
7oxidoreductase activityGO:00164919.5FOXRED1, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS7
8NADH dehydrogenase (ubiquinone) activityGO:00081378.6NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9

Sources for Leigh Syndrome with Leukodystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet