MCID: LGH012
MIFTS: 28

Leigh Syndrome with Leukodystrophy malady

Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories
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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 leigh syndrome due to mitochondrial cox4 deficiency and leigh syndrome due to mitochondrial complex i deficiency. 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.

Aliases & Classifications for Leigh Syndrome with Leukodystrophy

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

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


Classifications:

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


External Ids:

ICD10 via Orphanet26 G31.8

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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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:

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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Variations for Leigh Syndrome with Leukodystrophy

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Expression for genes affiliated with Leigh Syndrome with Leukodystrophy

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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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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/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.8NDUFS4, SDHA
2succinate449.7NDUFS4, SDHA
3iron-sulfur449.7SDHA, NDUFS8
4ubiquinone449.6NDUFS4, SDHA
5doxorubicin44 50 1111.2NDUFS4, 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
13nadh44 24 119.5SDHA, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8
14iron44 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial membraneGO:0319669.7NDUFA2, NDUFS3
2mitochondrial respiratory chain complex IGO:0057477.7NDUFA10, NDUFS7, NDUFS8, NDUFA2, NDUFV1, NDUFS3
3mitochondrionGO:0057397.5NDUFS4, SDHA, LIPT1, COX10, NDUFS3, NDUFS8
4mitochondrial inner membraneGO:0057436.4NDUFS3, SDHA, COX10, NDUFS1, NDUFV1, NDUFAF6

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex I assemblyGO:0329819.4NDUFAF6, NDUFS8, NDUFS7, NDUFS4
2reactive oxygen species metabolic processGO:0725939.3NDUFS4, NDUFS3, NDUFS1
3cellular respirationGO:0453339.3COX10, NDUFS1, NDUFS4
4hydrogen ion transmembrane transportGO:19026009.1COX10, SURF1
5respiratory chain complex IV assemblyGO:0085359.0SURF1, COX10
6aerobic respirationGO:0090608.8COX10, SURF1
7mitochondrial electron transport, NADH to ubiquinoneGO:0061208.0NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1
8respiratory electron transport chainGO:0229047.5NDUFA10, NDUFS4, NDUFS7, NDUFS8, NDUFA2, NDUFV1
9cellular metabolic processGO:0442377.5NDUFS3, NDUFS1, SDHA, NDUFV1, NDUFA2, NDUFS8
10small molecule metabolic processGO:0442816.7NDUFS3, NDUFS1, COX10, SDHA, NDUFV1, NDUFA2

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.6NDUFS3, NDUFS1
2NADH dehydrogenase activityGO:0039549.4NDUFS7, NDUFS8, NDUFS3
34 iron, 4 sulfur cluster bindingGO:0515399.1NDUFS1, NDUFV1, NDUFS8, NDUFS7
4cytochrome-c oxidase activityGO:0041298.8COX10, SURF1
5NADH dehydrogenase (ubiquinone) activityGO:0081377.9NDUFA10, NDUFS1, NDUFS3, NDUFV1, NDUFA2, NDUFS8

Products for genes affiliated with Leigh Syndrome with Leukodystrophy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet