MCID: MRR006
MIFTS: 13

Merrf/melas Overlap Syndrome malady

Genetic diseases (common) category

Summaries for Merrf/melas Overlap Syndrome

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MalaCards based summary: 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-TK (mitochondrially encoded tRNA lysine), and among its related pathways is tRNA Aminoacylation.

Aliases & Classifications for Merrf/melas Overlap Syndrome

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Merrf/melas Overlap Syndrome, Aliases & Descriptions:

Name: Merrf/melas Overlap Syndrome 21 23


Classifications:

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


Related Diseases for Merrf/melas Overlap Syndrome

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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 narp9.8MT-TK, MT-TL1
2mitochondrial disorders9.5MT-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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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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Genetic tests related to Merrf/melas Overlap Syndrome:

id Genetic test Affiliating Genes
1 Merrf/melas Overlap Syndrome21 23 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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Articles related to Merrf/melas Overlap Syndrome:

idTitleAuthorsYear
1
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. (24338029)
2013
2
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. (20610441)
2010
3
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. (12005255)
2002
4
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. (8559168)
1996
5
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. (7669057)
1995
6
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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Clinvar genetic disease variations for Merrf/melas Overlap Syndrome:

7
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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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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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
  • Proteins
  • Kits and Assays

Sources for Merrf/melas Overlap 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