MCID: LGH012
MIFTS: 23

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:
51Orphanet, 28ICD10 via Orphanet
See all 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


Classifications:



Characteristics (Orphanet epidemiological data):

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


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 hypophosphatemic rickets, x-linked dominant. An important gene associated with Leigh Syndrome with Leukodystrophy is ECHS1 (Enoyl CoA Hydratase, Short Chain, 1, Mitochondrial), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye.

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

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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Clinvar genetic disease variations for Leigh Syndrome with Leukodystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ECHS1NM_004092.3(ECHS1): c.2T> G (p.Met1Arg)single nucleotide variantLikely pathogenic, Pathogenicrs587776497GRCh38Chr 10, 133373332: 133373332
2ECHS1NM_004092.3(ECHS1): c.5C> T (p.Ala2Val)single nucleotide variantLikely pathogenic, Pathogenicrs587776498GRCh37Chr 10, 135186833: 135186833
3ECHS1NM_004092.3(ECHS1): c.473C> A (p.Ala158Asp)single nucleotide variantPathogenicrs786204001GRCh37Chr 10, 135182468: 135182468
4ECHS1NM_004092.3(ECHS1): c.414+3G> Csingle nucleotide variantPathogenicrs786204002GRCh37Chr 10, 135183405: 135183405

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:00432099.1NDUFA10, NDUFS1, NDUFS3, NDUFV2, PDHA1, SDHA
2mitochondrial matrixGO:00057598.9ECHS1, NDUFA10, NDUFS1, NDUFS2, NDUFS3, NDUFS7
3mitochondrial respiratory chain complex IGO:00057478.5FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFS1, NDUFS2
4mitochondrial inner membraneGO:00057437.2COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFAF5
5mitochondrionGO:00057396.0COX15, ECHS1, FOXRED1, LIPT1, NDUFA10, NDUFA12

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:000609910.7PDHA1, SDHA
2electron transport chainGO:002290010.6NDUFS4, SDHA
3respiratory gaseous exchangeGO:000758510.4COX15, NDUFA12
4cellular respirationGO:004533310.3COX15, NDUFS1, NDUFS4
5mitochondrial respiratory chain complex I assemblyGO:003298110.0FOXRED1, NDUFAF5, NDUFS4, NDUFS7, NDUFS8
6reactive oxygen species metabolic processGO:00725939.9NDUFS1, NDUFS3, NDUFS4
7response to oxidative stressGO:00069799.8NDUFA12, NDUFS2, NDUFS8
8mitochondrial electron transport, NADH to ubiquinoneGO:00061209.0NDUFA10, NDUFA2, NDUFS1, NDUFS2, NDUFS3, NDUFS4
9respiratory electron transport chainGO:00229048.0NDUFA10, NDUFA12, NDUFA2, NDUFAF5, NDUFS1, NDUFS2
10oxidation-reduction processGO:00551148.0COX15, FOXRED1, NDUFA12, NDUFS1, NDUFS2, NDUFS3
11cellular metabolic processGO:00442377.8NDUFA10, NDUFA12, NDUFA2, NDUFAF5, NDUFS1, NDUFS2
12small molecule metabolic processGO:00442816.7COX15, ECHS1, NDUFA10, NDUFA12, NDUFA2, NDUFAF5

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1quinone bindingGO:004803810.5NDUFS2, NDUFS7
2oxidoreductase activity, acting on the CH-CH group of donorsGO:001662710.5COX15, SDHA
32 iron, 2 sulfur cluster bindingGO:005153710.5NDUFS1, NDUFV2
4iron-sulfur cluster bindingGO:005153610.4NDUFS1, NDUFS7, NDUFS8
5NADH dehydrogenase activityGO:000395410.1NDUFS2, NDUFS3, NDUFS7, NDUFS8, NDUFV1
6oxidoreductase activity, acting on NAD(P)HGO:00166519.9NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS8, NDUFV1
74 iron, 4 sulfur cluster bindingGO:00515399.7NDUFS1, NDUFS2, NDUFS7, NDUFS8, NDUFV1
8oxidoreductase activityGO:00164919.6FOXRED1, NDUFS1, NDUFV2, SDHA
9electron carrier activityGO:00090559.1NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFV2
10NADH dehydrogenase (ubiquinone) activityGO:00081378.6NDUFA10, NDUFA12, NDUFA2, NDUFS1, NDUFS2, NDUFS3

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