MCID: LGH012
MIFTS: 19

Leigh Syndrome with Leukodystrophy malady

Neuronal, Eye, Metabolic categories

Summaries for Leigh Syndrome with Leukodystrophy

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33MalaCards
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MalaCards: Leigh Syndrome with Leukodystrophy, also known as infantile subacute necrotizing encephalopathy with leukodystrophy, is related to leukodystrophy and seminal vesicle tumor. An important gene associated with Leigh Syndrome with Leukodystrophy is SDHA (succinate dehydrogenase complex, subunit A, flavoprotein (Fp)), and among its related pathways are Citric acid cycle (TCA cycle) and Pyruvate metabolism. The compounds UBIQUINONE-1 and 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol have been mentioned in the context of this disorder.

Aliases & Classifications for Leigh Syndrome with Leukodystrophy

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49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

leigh syndrome with leukodystrophy 49
infantile subacute necrotizing encephalopathy with leukodystrophy 49
leigh disease with leukodystrophy 49


External Ids:

ICD10 via Orphanet26 G31.8

Related Diseases for Leigh Syndrome with Leukodystrophy

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Leigh Syndrome with Leukodystrophy:



Diseases related to leigh syndrome with leukodystrophy

Clinical Features for Leigh Syndrome with Leukodystrophy

Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Leigh Syndrome with Leukodystrophy

Search NIH Clinical Center for Leigh Syndrome with Leukodystrophy

Search CenterWatch for Leigh Syndrome with Leukodystrophy

Genetic Tests for Leigh Syndrome with Leukodystrophy

Anatomical Context for Leigh Syndrome with Leukodystrophy

Animal Models for Leigh Syndrome with Leukodystrophy or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Leigh Syndrome with Leukodystrophy

Genetic Variations for Leigh Syndrome with Leukodystrophy

Expression for genes affiliated with Leigh Syndrome with Leukodystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leigh Syndrome with Leukodystrophy

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

Pathways for genes affiliated with Leigh Syndrome with Leukodystrophy

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 50PharmGKB
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Compounds for genes affiliated with Leigh Syndrome with Leukodystrophy

Sources:
11DrugBank, 45Novoseek, 2BitterDB, 24HMDB, 29IUPHAR
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Compounds related to Leigh Syndrome with Leukodystrophy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1UBIQUINONE-1119.9SDHB, SDHA
22-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol119.8SDHA, SDHB
33-nitropropionic acid459.8SDHB, NDUFS4
4thiamine45 2 11 2412.8SDHB, SLC19A3
5thenoyltrifluoroacetone45 1110.6NDUFS4, SDHB, SDHA
6gssg459.6SDHB, NDUFS4
7ubiquinone459.6SDHA, SDHB, NDUFS4
8iron-sulfur459.6SDHA, SDHB, NDUFS8
9succinate459.5SDHA, SDHB, NDUFS4
10nad+459.5NDUFS4, SDHB, SDHA
11succinic acid29 11 2411.4SDHA, SDHB
12glyceraldehyde 3-phosphate459.3NDUFS4, SDHB, SDHA
13pyruvate459.2SDHB, SURF1, NDUFS4
14nad29 248.4NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4, NDUFA2
15nadh45 11 248.7SDHA, NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4
16iron45 247.7NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4, NDUFA2

GO Terms for genes affiliated with Leigh Syndrome with Leukodystrophy

Sources:
16Gene Ontology
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Cellular components related to Leigh Syndrome with Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:0057499.4SDHA, SDHB
2mitochondrionGO:0057397.5COX10, NDUFS3, NDUFS8, NDUFS4, SDHB, SDHA
3mitochondrial respiratory chain complex IGO:0057477.1NDUFS4, NDUFS7, NDUFS1, NDUFS3, NDUFA10, NDUFV1
4mitochondrial inner membraneGO:0057435.3NDUFV1, NDUFS4, NDUFS8, NDUFA10, NDUFS3, COX10

Biological processes related to Leigh Syndrome with Leukodystrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:0060999.7SDHA, SDHB
2succinate metabolic processGO:0061059.4SDHA, SDHB
3respiratory chain complex IV assemblyGO:0085359.3SURF1, COX10
4mitochondrial respiratory chain complex I assemblyGO:0329819.2NDUFS7, NDUFAF6, NDUFS4, NDUFS8
5reactive oxygen species metabolic processGO:0725939.2NDUFS3, NDUFS4, NDUFS1
6cellular respirationGO:0453339.1COX10, NDUFS4, NDUFS1
7aerobic respirationGO:0090608.9SDHB, SURF1, COX10
8mitochondrial electron transport, NADH to ubiquinoneGO:0061207.4NDUFS7, NDUFS1, NDUFA2, NDUFS4, NDUFS8, NDUFV1
9respiratory electron transport chainGO:0229046.6SDHA, SDHB, NDUFS7, NDUFS1, NDUFA2, NDUFS4
10cellular metabolic processGO:0442376.6NDUFS8, NDUFV1, NDUFA10, NDUFS3, NDUFS4, NDUFA2
11small molecule metabolic processGO:0442815.5NDUFS8, NDUFV1, NDUFA10, NDUFS3, COX10, NDUFS4

Molecular functions related to Leigh Syndrome with Leukodystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:0081779.7SDHA, SDHB
2cytochrome-c oxidase activityGO:0041299.4SURF1, COX10
32 iron, 2 sulfur cluster bindingGO:0515379.4SDHB, NDUFS1
4NADH dehydrogenase activityGO:0039549.2NDUFS3, NDUFS8, NDUFS7
54 iron, 4 sulfur cluster bindingGO:0515398.6SDHB, NDUFS7, NDUFS1, NDUFS8, NDUFV1
6electron carrier activityGO:0090558.5NDUFS3, NDUFS8, NDUFS1, SDHB
7NADH dehydrogenase (ubiquinone) activityGO:0081377.3NDUFS7, NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4

Products for genes affiliated with Leigh Syndrome with Leukodystrophy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leigh Syndrome with Leukodystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet