MCID: LGH012
MIFTS: 29

Leigh Syndrome with Leukodystrophy malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Leigh Syndrome with Leukodystrophy

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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. Affiliated tissues include eye.

Aliases & Classifications for Leigh Syndrome with Leukodystrophy

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

leigh syndrome with leukodystrophy 48
infantile subacute necrotizing encephalopathy with leukodystrophy 48
leigh disease with leukodystrophy 48


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

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Drugs & Therapeutics for Leigh Syndrome with Leukodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Leigh Syndrome with Leukodystrophy

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Leigh Syndrome with Leukodystrophy:

32
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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Genetic Variations for Leigh Syndrome with Leukodystrophy

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Expression for genes affiliated with Leigh Syndrome with Leukodystrophy

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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Leigh Syndrome with Leukodystrophy

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Sources:
11DrugBank, 44Novoseek, 2BitterDB, 24HMDB, 28IUPHAR
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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
3thiamine44 2 11 2412.8SDHB, SLC19A3
43-nitropropionic acid449.8SDHB, NDUFS4
5succinic acid28 11 2411.7SDHA, SDHB
6thenoyltrifluoroacetone44 1110.6NDUFS4, SDHB, SDHA
7ubiquinone449.6SDHA, SDHB, NDUFS4
8gssg449.6SDHB, NDUFS4
9iron-sulfur449.6SDHA, SDHB, NDUFS8
10succinate449.6SDHA, SDHB, NDUFS4
11nad+449.5NDUFS4, SDHB, SDHA
12glyceraldehyde 3-phosphate449.3NDUFS4, SDHB, SDHA
13pyruvate449.0SDHB, SURF1, NDUFS4
14nad28 248.4NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4, NDUFA2
15nadh44 11 248.7SDHA, NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4
16iron44 247.7NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4, NDUFA2

GO Terms for genes affiliated with Leigh Syndrome with Leukodystrophy

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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:0057499.7SDHA, SDHB
2mitochondrial respiratory chain complex IGO:0057477.1NDUFS1, NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4
3mitochondrionGO:0057396.9SDHA, COX10, NDUFS3, NDUFS8, NDUFS4, LIPT1
4mitochondrial inner membraneGO:0057435.3NDUFS8, NDUFAF6, NDUFA2, NDUFS4, NDUFV1, NDUFA10

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:0060999.7SDHB, SDHA
2succinate metabolic processGO:0061059.4SDHA, SDHB
3respiratory chain complex IV assemblyGO:0085359.3SURF1, COX10
4mitochondrial respiratory chain complex I assemblyGO:0329819.2NDUFS4, NDUFS8, NDUFAF6, NDUFS7
5reactive oxygen species metabolic processGO:0725939.2NDUFS1, NDUFS4, NDUFS3
6cellular respirationGO:0453339.1NDUFS1, NDUFS4, COX10
7aerobic respirationGO:0090609.0SURF1, COX10, SDHB
8mitochondrial electron transport, NADH to ubiquinoneGO:0061207.4NDUFS4, NDUFS7, NDUFS1, NDUFA2, NDUFS8, NDUFV1
9respiratory electron transport chainGO:0229046.6NDUFS7, NDUFS1, NDUFA2, NDUFS4, NDUFS8, NDUFV1
10cellular metabolic processGO:0442376.6NDUFS3, SDHA, SDHB, NDUFS7, NDUFS1, NDUFA2
11small molecule metabolic processGO:0442815.5COX10, NDUFA10, NDUFV1, NDUFS7, NDUFS1, NDUFA2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:0081779.7SDHB, SDHA
2cytochrome-c oxidase activityGO:0041299.4COX10, SURF1
32 iron, 2 sulfur cluster bindingGO:0515379.4SDHB, NDUFS1
4NADH dehydrogenase activityGO:0039549.2NDUFS7, NDUFS8, NDUFS3
54 iron, 4 sulfur cluster bindingGO:0515398.6SDHB, NDUFS7, NDUFS1, NDUFS8, NDUFV1
6electron carrier activityGO:0090558.5NDUFS3, NDUFS8, NDUFS1, SDHB
7NADH dehydrogenase (ubiquinone) activityGO:0081377.3NDUFS3, NDUFA10, NDUFV1, NDUFS8, NDUFS4, NDUFA2

Products for genes affiliated with Leigh Syndrome with Leukodystrophy

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Leigh Syndrome with Leukodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet