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:
48Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 48
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 48
 
Leigh Disease with Leukodystrophy 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet48 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:
44Novoseek, 11DrugBank, 50PharmGKB, 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
1thenoyltrifluoroacetone44 1110.8NDUFS4, SDHA
2succinate449.7SDHA, NDUFS4
3iron-sulfur449.7SDHA, NDUFS8
4ubiquinone449.6NDUFS4, SDHA
5doxorubicin44 50 1111.2NDUFS4, NDUFS3, NDUFS7
6Ubiquinol 8248.4NDUFS7, NDUFS8, NDUFV1, NDUFS3, NDUFS1, SDHA
7nad28 248.9NDUFA2, NDUFS8, NDUFS3, NDUFS7, NDUFS4, NDUFA10
8FAD247.6NDUFS3, NDUFS1, SDHA, NDUFV1, NDUFA2, NDUFS8
9Sulfide247.6NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1, NDUFS3
10QH2247.5SDHA, NDUFS1, NDUFS3, NDUFA10, NDUFS4, NDUFS7
11Ubiquinone Q2247.5NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1
12Ubiquinone Q1247.5SDHA, NDUFS1, NDUFV1, NDUFA10, NDUFS4, NDUFS7
13nadh44 24 119.5NDUFV1, NDUFS3, NDUFS1, NDUFA2, NDUFS8, NDUFS4
14iron44 248.4NDUFS1, SDHA, 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:00725939.3NDUFS3, NDUFS1, NDUFS4
3cellular respirationGO:00453339.3COX10, NDUFS1, NDUFS4
4hydrogen ion transmembrane transportGO:019026009.1COX10, SURF1
5respiratory chain complex IV assemblyGO:00085359.0COX10, SURF1
6aerobic respirationGO:00090608.8SURF1, COX10
7mitochondrial electron transport, NADH to ubiquinoneGO:00061208.0NDUFS3, NDUFV1, NDUFA2, NDUFS8, NDUFS7, NDUFS4
8cellular metabolic processGO:00442377.5SDHA, NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2
9respiratory electron transport chainGO:00229047.5NDUFA2, NDUFV1, NDUFS3, NDUFS1, SDHA, NDUFS8
10small molecule metabolic processGO:00442816.7NDUFS7, NDUFS8, NDUFA2, NDUFV1, NDUFS3, NDUFS1

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

Sources for Leigh Syndrome with Leukodystrophy

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet