MCID: LGH012
MIFTS: 24

Leigh Syndrome with Leukodystrophy malady

Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Leigh Syndrome with Leukodystrophy

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Sources:
47Orphanet, 26ICD10 via Orphanet
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Leigh Syndrome with Leukodystrophy, Aliases & Descriptions:

Name: Leigh Syndrome with Leukodystrophy 47
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 47
 
Leigh Disease with Leukodystrophy 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 255241
ICD10 via Orphanet26 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 brain disease and lactic acidosis. An important gene associated with Leigh Syndrome with Leukodystrophy is SLC19A3 (solute carrier family 19 (thiamine transporter), member 3), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamic. The compounds thenoyltrifluoroacetone and succinate have been mentioned in the context of this disorder. Affiliated tissues include eye.

Related Diseases for Leigh Syndrome with Leukodystrophy

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Diseases related to Leigh Syndrome with Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brain disease10.0NDUFS4, SURF1
2lactic acidosis9.9NDUFS4, SURF1
3mitochondrial complex i deficiency9.9NDUFS7, NDUFAF6, NDUFV1, NDUFS1
4mitochondrial complex iv deficiency9.8COX10, SURF1
5mitochondrial disorders9.8SURF1, COX10, NDUFS4
6leigh syndrome9.6SDHA, SURF1, NDUFV1, NDUFS8

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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Drug clinical trials:

Search ClinicalTrials for Leigh Syndrome with Leukodystrophy

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:

31
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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Compounds for genes affiliated with Leigh Syndrome with Leukodystrophy

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Sources:
43Novoseek, 12DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR
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Compounds related to Leigh Syndrome with Leukodystrophy according to GeneCards Suite gene sharing:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone43 1210.8NDUFS4, SDHA
2succinate439.7NDUFS4, SDHA
3iron-sulfur439.7SDHA, NDUFS8
4ubiquinone439.6NDUFS4, SDHA
5doxorubicin43 49 1211.2NDUFS4, NDUFS7, NDUFS3
6Ubiquinol 8248.4SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFS8, NDUFS7
7nad28 248.9NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8, NDUFS7
8Ubiquinone Q2247.6NDUFA10, NDUFS4, NDUFS7, NDUFS8, SDHA, NDUFS1
9Ubiquinone Q1247.5SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8
10Sulfide247.5SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8
11QH2247.5NDUFS4, NDUFA10, NDUFS7, NDUFS8, SDHA, NDUFS1
12FAD247.5SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8
13nadh43 24 129.5SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8
14iron43 248.4SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8

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 membraneGO:00319669.7NDUFA2, NDUFS3
2mitochondrial respiratory chain complex IGO:00057477.7NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1
3mitochondrionGO:00057397.5SDHA, LIPT1, COX10, NDUFS3, NDUFS8, NDUFS4
4mitochondrial inner membraneGO:00057436.4NDUFA10, SDHA, COX10, NDUFS4, NDUFS7, NDUFS8

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex I assemblyGO:00329819.4NDUFAF6, NDUFS8, NDUFS7, NDUFS4
2reactive oxygen species metabolic processGO:00725939.3NDUFS4, NDUFS3, NDUFS1
3cellular respirationGO:00453339.3COX10, NDUFS1, NDUFS4
4hydrogen ion transmembrane transportGO:019026009.1COX10, SURF1
5respiratory chain complex IV assemblyGO:00085359.0SURF1, COX10
6aerobic respirationGO:00090608.8COX10, SURF1
7mitochondrial electron transport, NADH to ubiquinoneGO:00061208.0NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1
8respiratory electron transport chainGO:00229047.5NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1
9cellular metabolic processGO:00442377.5NDUFS3, NDUFS1, SDHA, NDUFV1, NDUFA2, NDUFS8
10small molecule metabolic processGO:00442816.7NDUFS3, NDUFS1, COX10, SDHA, NDUFV1, NDUFA2

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.6NDUFS3, NDUFS1
2NADH dehydrogenase activityGO:00039549.4NDUFS7, NDUFS8, NDUFS3
34 iron, 4 sulfur cluster bindingGO:00515399.1NDUFS1, NDUFV1, NDUFS8, NDUFS7
4cytochrome-c oxidase activityGO:00041298.8COX10, SURF1
5NADH dehydrogenase (ubiquinone) activityGO:00081377.9NDUFA10, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8

Products for genes affiliated with Leigh Syndrome with Leukodystrophy

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  • Antibodies
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  • Antibodies
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  • Kits and Assays

Sources for Leigh Syndrome with Leukodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet