MCID: XLN036
MIFTS: 15

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, and has symptoms including nystagmus, muscular hypotonia and spasticity. 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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X-Linked Leigh Syndrome, Aliases & Descriptions:

Name: X-Linked Leigh Syndrome 21 23
 
Leigh Syndrome, X-Linked 46 61


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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Clinical features from OMIM:

308930

HPO human phenotypes related to X-Linked Leigh Syndrome:

(show all 12)
id Description Frequency HPO Source Accession
1 nystagmus HP:0000639
2 muscular hypotonia HP:0001252
3 spasticity HP:0001257
4 global developmental delay HP:0001263
5 x-linked recessive inheritance HP:0001419
6 chorea HP:0002072
7 increased serum lactate HP:0002151
8 gliosis HP:0002171
9 neurodegeneration HP:0002180
10 respiratory difficulties HP:0002880
11 lactic acidosis HP:0003128
12 cns demyelination HP:0007305

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 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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Clinvar genetic disease variations for X-Linked Leigh Syndrome:

7
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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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
  • Proteins
  • Kits and Assays

Sources for X-Linked Leigh Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet