MCID: XLN036
MIFTS: 15

X-Linked Leigh Syndrome malady

Genetic diseases (common) category

Summaries for X-Linked Leigh Syndrome

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Sources:
48OMIM, 34MalaCards
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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:48 308930

Aliases & Classifications for X-Linked Leigh Syndrome

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

x-linked leigh syndrome 21 23
leigh syndrome, x-linked 48 63


Related Diseases for X-Linked Leigh Syndrome

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Symptoms for X-Linked Leigh Syndrome

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

308930

Clinical features from OMIM:

308930

Drugs & Therapeutics for X-Linked Leigh Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
21GeneTests, 23GTR
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Genetic tests related to X-Linked Leigh Syndrome:

id Genetic test Affiliating Genes
1 X-Linked Leigh Syndrome21 23 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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for X-Linked Leigh Syndrome:

65
id Symbol AA change Variation ID SNP ID
1PDHA1p.Phe205LeuVAR_004954
2PDHA1p.Asp258AlaVAR_004958
3PDHA1p.Arg263GlyVAR_004959rs28936081
4PDHA1p.Arg378HisVAR_004966

Clinvar genetic disease variations for X-Linked Leigh Syndrome:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet