MCID: LGH012
MIFTS: 26

Leigh Syndrome with Leukodystrophy malady

Categories: Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Leigh Syndrome with Leukodystrophy

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Leigh Syndrome with Leukodystrophy:

Name: Leigh Syndrome with Leukodystrophy 51
Infantile Subacute Necrotizing Encephalopathy with Leukodystrophy 51
 
Leigh Disease with Leukodystrophy 51

Characteristics:

Orphanet epidemiological data:

51
infantile subacute necrotizing encephalopathy with leukodystrophy:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 255241
ICD10 via Orphanet28 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 hypokalemic periodic paralysis, type 2 and gemistocytic astrocytoma. An important gene associated with Leigh Syndrome with Leukodystrophy is NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye and thymus.

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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Eye, Thymus

Animal Models for Leigh Syndrome with Leukodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Leigh Syndrome with Leukodystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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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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
1myelin sheathGO:00432099.5NDUFA10, NDUFS1, NDUFS3, PDHA1

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

idNameGO IDScoreTop Affiliating Genes
1respiratory electron transport chainGO:002290410.3NDUFA12, NDUFS4
2mitochondrial electron transport, NADH to ubiquinoneGO:00061209.2NDUFA10, NDUFA12, NDUFS2, NDUFS3, NDUFS4, NDUFS7
3cellular metabolic processGO:00442379.1NDUFAF5, NDUFS1, NDUFS3, NDUFS4, NDUFS8, PDHA1
4oxidation-reduction processGO:00551148.9NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFS7, NDUFS8

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

idNameGO IDScoreTop Affiliating Genes
1quinone bindingGO:004803810.5NDUFS2, NDUFS7
2oxidoreductase activity, acting on NAD(P)HGO:001665110.3NDUFS2, NDUFS8, NDUFV1
3electron carrier activityGO:000905510.0NDUFS2, NDUFS3
44 iron, 4 sulfur cluster bindingGO:00515399.5NDUFS2, NDUFS7, NDUFS8, NDUFV1
5NADH dehydrogenase (ubiquinone) activityGO:00081378.8NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFS7, NDUFS8

Sources for Leigh Syndrome with Leukodystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet