MCID: MRR006
MIFTS: 12

Merrf/melas Overlap Syndrome malady

Genetic diseases (common) category
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Summaries for Merrf/melas Overlap Syndrome

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33MalaCards
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MalaCards: Merrf/melas Overlap Syndrome is related to mitochondrial dna-associated leigh syndrome and narp and mitochondrial disorders. An important gene associated with Merrf/melas Overlap Syndrome is MT-TH (mitochondrially encoded tRNA histidine), and among its related pathways is tRNA Aminoacylation.

Aliases & Classifications for Merrf/melas Overlap Syndrome

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20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

merrf/melas overlap syndrome 20 22


Related Diseases for Merrf/melas Overlap Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Merrf/melas Overlap Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp10.0MT-TK, MT-TL1
2mitochondrial disorders9.9MT-TK, MT-TH, MT-TL1

Symptoms for Merrf/melas Overlap Syndrome

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Drugs & Therapeutics for Merrf/melas Overlap Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Merrf/melas Overlap Syndrome

Search NIH Clinical Center for Merrf/melas Overlap Syndrome

Genetic Tests for Merrf/melas Overlap Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Merrf/melas Overlap Syndrome:

id Genetic test Affiliating Genes
1 Merrf/melas Overlap Syndrome20 22 MT-TH

Anatomical Context for Merrf/melas Overlap Syndrome

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Animal Models for Merrf/melas Overlap Syndrome or affiliated genes

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Publications for Merrf/melas Overlap Syndrome

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52PubMed
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Articles related to Merrf/melas Overlap Syndrome:

idTitleAuthorsYear
1
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. (20610441)
2010
2
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. (12005255)
2002
3
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. (8559168)
1996
4
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. (7669057)
1995
5
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. (8069654)
1993

Variations for Merrf/melas Overlap Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Merrf/melas Overlap Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-TKm.8356T> Csingle nucleotide variantPathogenicrs118192099GRCh37Chr MT, 8356: 8356
2MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243

Expression for genes affiliated with Merrf/melas Overlap Syndrome

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Merrf/melas Overlap Syndrome.

Pathways for genes affiliated with Merrf/melas Overlap Syndrome

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50PathCards, 55Reactome, 30KEGG
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Pathways related to Merrf/melas Overlap Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5MT-TK, MT-TH, MT-TL1

Compounds for genes affiliated with Merrf/melas Overlap Syndrome

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GO Terms for genes affiliated with Merrf/melas Overlap Syndrome

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Products for genes affiliated with Merrf/melas Overlap Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Merrf/melas Overlap Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet