MCID: XLN036
MIFTS: 14

X-Linked Leigh Syndrome malady

Summaries for X-Linked Leigh Syndrome

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Sources:
46OMIM, 32MalaCards
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MalaCards: X-Linked Leigh Syndrome, is also known as leigh syndrome, x-linked An important gene associated with X-Linked Leigh Syndrome is PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1).

Description from OMIM:46 308930

Aliases & Classifications for X-Linked Leigh Syndrome

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Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

x-linked leigh syndrome 20 22
leigh syndrome, x-linked 46 60


Related Diseases for X-Linked Leigh Syndrome

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Clinical Features for X-Linked Leigh Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

308930

Clinical synopsis from OMIM:

308930

Drugs & Therapeutics for X-Linked Leigh Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for X-Linked Leigh Syndrome

Drug clinical trials:

Search ClinicalTrials for X-Linked Leigh Syndrome

Search NIH Clinical Center for X-Linked Leigh Syndrome

Search CenterWatch for X-Linked Leigh Syndrome

Genetic Tests for X-Linked Leigh Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to X-Linked Leigh Syndrome:

id Genetic test Affiliating Genes
1 X-Linked Leigh Syndrome20 22 PDHA1

Anatomical Context for X-Linked Leigh Syndrome

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Animal Models for X-Linked Leigh Syndrome or affiliated genes

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Publications for X-Linked Leigh Syndrome

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Genetic Variations for X-Linked Leigh Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Leigh Syndrome:

62
id Symbol AA change Variation ID SNP ID
1PDHA1p.Phe205LeuVAR_004954
2PDHA1p.Asp258AlaVAR_004958
3PDHA1p.Arg263GlyVAR_004959rs28936081
4PDHA1p.Arg378HisVAR_004966

Expression for genes affiliated with X-Linked Leigh Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Leigh Syndrome

Search GEO for disease gene expression data for X-Linked Leigh Syndrome.

Pathways for genes affiliated with X-Linked Leigh Syndrome

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Compounds for genes affiliated with X-Linked Leigh Syndrome

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GO Terms for genes affiliated with X-Linked Leigh Syndrome

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Products for genes affiliated with X-Linked Leigh Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Leigh Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet