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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 53
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 53
 
Leigh Disease with Leukodystrophy 53

Characteristics:

Orphanet epidemiological data:

53
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA255241
ICD10 via Orphanet30 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 polyhydramnios, megalencephaly, and symptomatic epilepsy and extragonadal nonseminomatous germ cell tumor. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8), 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:

35
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
1myelin sheathGO:00432099.2NDUFA10, NDUFS1, NDUFS3, NDUFV2, PDHA1, SDHA
2mitochondrial respiratory chain complex IGO:00057479.2FOXRED1, NDUFA10, NDUFS1, NDUFS2, NDUFS3, NDUFS4
3mitochondrial matrixGO:00057598.8ECHS1, LIPT1, NDUFA10, NDUFS1, NDUFS2, NDUFS3
4mitochondrial inner membraneGO:00057438.7FOXRED1, NDUFA10, NDUFAF6, NDUFS3, NDUFS4, NDUFS7
5mitochondrionGO:00057396.7ECHS1, FOXRED1, MTFMT, NDUFAF6, NDUFS1, NDUFS2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:000906010.5NDUFV1, SURF1
2mitochondrial respiratory chain complex IV assemblyGO:003361710.4PET100, SURF1
3cellular respirationGO:004533310.3NDUFS1, NDUFS4
4reactive oxygen species metabolic processGO:00725939.9NDUFS1, NDUFS3, NDUFS4
5glyoxylate metabolic processGO:00464879.9LIPT1, PDHA1
6tricarboxylic acid cycleGO:00060999.8PDHA1, SDHA
7mitochondrial electron transport, NADH to ubiquinoneGO:00061208.9NDUFA10, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7
8mitochondrial respiratory chain complex I assemblyGO:00329818.8FOXRED1, NDUFA10, NDUFAF6, NDUFS1, NDUFS2, NDUFS3

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:000395410.2NDUFS2, NDUFS3, NDUFS7, NDUFS8, NDUFV1
44 iron, 4 sulfur cluster bindingGO:00515399.6NDUFS1, NDUFS2, NDUFS7, NDUFS8, NDUFV1
5electron carrier activityGO:00090559.4NDUFS1, NDUFS2, NDUFS3, NDUFV2
6NADH dehydrogenase (ubiquinone) activityGO:00081379.3NDUFA10, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7

Sources for Leigh Syndrome with Leukodystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet