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:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 52
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 52
 
Leigh Disease with Leukodystrophy 52

Characteristics:

Orphanet epidemiological data:

52
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA255241
ICD10 via Orphanet29 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 erb's palsy and polyhydramnios, megalencephaly, and symptomatic epilepsy. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFS7 (NADH:Ubiquinone Oxidoreductase Core Subunit S7), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye.

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 for Leigh Syndrome with Leukodystrophy

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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:

34
Eye

Animal Models for Leigh Syndrome with Leukodystrophy or affiliated genes

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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
1mitochondrial respiratory chainGO:000574610.6COX15, NDUFA13
2myelin sheathGO:00432099.1NDUFA10, NDUFS1, NDUFS3, NDUFV2, PDHA1, SDHA
3mitochondrial matrixGO:00057598.8ECHS1, LIPT1, NDUFA10, NDUFS1, NDUFS2, NDUFS3
4mitochondrial respiratory chain complex IGO:00057478.7FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFS1, NDUFS2
5mitochondrial inner membraneGO:00057437.9COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFAF6
6mitochondrionGO:00057397.3COX15, ECHS1, FOXRED1, NDUFA13, NDUFAF6, NDUFS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intrinsic apoptotic signaling pathwayGO:200124310.3NDUFA13, NDUFS3
2cellular respirationGO:004533310.3COX15, NDUFS1, NDUFS4
3tricarboxylic acid cycleGO:000609910.0PDHA1, SDHA
4response to oxidative stressGO:000697910.0NDUFA12, NDUFS2, NDUFS8
5glyoxylate metabolic processGO:00464879.7LIPT1, PDHA1
6reactive oxygen species metabolic processGO:00725939.6NDUFA13, NDUFS1, NDUFS3, NDUFS4
7mitochondrial electron transport, NADH to ubiquinoneGO:00061208.2NDUFA10, NDUFA12, NDUFA13, NDUFS1, NDUFS2, NDUFS3
8mitochondrial respiratory chain complex I assemblyGO:00329818.1FOXRED1, NDUFA10, NDUFA12, NDUFA13, NDUFAF6, NDUFS1

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

idNameGO IDScoreTop Affiliating Genes
1quinone bindingGO:004803810.5NDUFS2, NDUFS7
22 iron, 2 sulfur cluster bindingGO:005153710.4NDUFS1, NDUFV2
3NADH dehydrogenase activityGO:00039549.8NDUFA13, NDUFS2, NDUFS3, NDUFS7, NDUFS8, NDUFV1
44 iron, 4 sulfur cluster bindingGO:00515399.6NDUFS1, NDUFS2, NDUFS7, NDUFS8, NDUFV1
5electron carrier activityGO:00090559.1NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFV2
6NADH dehydrogenase (ubiquinone) activityGO:00081378.6NDUFA10, NDUFA12, NDUFA13, NDUFS1, NDUFS2, NDUFS3

Sources for Leigh Syndrome with Leukodystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet