MCID: XLN036

X-Linked Leigh Syndrome malady

Genetic diseases (common) category

Summaries for X-Linked Leigh Syndrome

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MalaCards based summary: 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).

Aliases & Classifications for X-Linked Leigh Syndrome

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X-Linked Leigh Syndrome, Aliases & Descriptions:

Name: X-Linked Leigh Syndrome 20 22
 
Leigh Syndrome, X-Linked 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for X-Linked Leigh Syndrome

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Symptoms for X-Linked Leigh Syndrome

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Drugs & Therapeutics for X-Linked Leigh Syndrome

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Drug clinical trials:

Search ClinicalTrials for X-Linked Leigh Syndrome

Search NIH Clinical Center for X-Linked Leigh Syndrome

Genetic Tests for X-Linked Leigh Syndrome

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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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Variations for X-Linked Leigh Syndrome

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Clinvar genetic disease variations for X-Linked Leigh Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PDHA1NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala)single nucleotide variantPathogenicrs137853253GRCh37Chr X, 19373817: 19373817
2PDHA1NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly)single nucleotide variantPathogenicrs137853259GRCh37Chr X, 19373831: 19373831

Expression for genes affiliated with X-Linked Leigh Syndrome

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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
  • Proteins
  • Kits and Assays

Sources for X-Linked Leigh Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet