MCID: XLN036
MIFTS: 10

X-Linked Leigh Syndrome malady

Summaries for X-Linked Leigh Syndrome

Sources:
47OMIM, 33MalaCards
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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:47 308930

Aliases & Classifications for X-Linked Leigh Syndrome

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

x-linked leigh syndrome 20 22
leigh syndrome, x-linked 47 61


Related Diseases for X-Linked Leigh Syndrome

Clinical Features for X-Linked Leigh Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

308930

Clinical synopsis from OMIM:

308930

Drugs & Therapeutics for X-Linked Leigh Syndrome

Sources:
5CenterWatch, 42NIH 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

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

Animal Models for X-Linked Leigh Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Leigh Syndrome

Genetic Variations for X-Linked Leigh Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Leigh Syndrome:

63
id Symbol AA change Variation SNP ID
1PDHA1p.Phe205LeuVAR_004954
2PDHA1p.Asp258AlaVAR_004958
3PDHA1p.Arg263GlyVAR_004959rs28936081
4PDHA1p.Arg378HisVAR_004966

Expression for genes affiliated with X-Linked Leigh Syndrome

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

Compounds for genes affiliated with X-Linked Leigh Syndrome

GO Terms for genes affiliated with X-Linked Leigh Syndrome

Products for genes affiliated with X-Linked Leigh Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Leigh Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet