MCID: MRR006
MIFTS: 15

Merrf/melas Overlap Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Merrf/melas Overlap Syndrome

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Aliases & Descriptions for Merrf/melas Overlap Syndrome:

Name: Merrf/melas Overlap Syndrome 22 24 65

Classifications:



External Ids:

UMLS65 C3151970

Summaries for Merrf/melas Overlap Syndrome

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MalaCards based summary: Merrf/melas Overlap Syndrome is related to digeorge syndrome 2 and matsoukas liarikos giannika syndrome. An important gene associated with Merrf/melas Overlap Syndrome is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include endothelial.

Related Diseases for Merrf/melas Overlap Syndrome

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Graphical network of diseases related to Merrf/melas Overlap Syndrome:



Diseases related to merrf/melas overlap syndrome

Symptoms for Merrf/melas Overlap Syndrome

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Drugs & Therapeutics for Merrf/melas Overlap Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 MT-TH

Anatomical Context for Merrf/melas Overlap Syndrome

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MalaCards organs/tissues related to Merrf/melas Overlap Syndrome:

33
Endothelial

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:

5
id Gene Variation 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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5MT-TH, MT-TK, MT-TL1

GO Terms for genes affiliated with Merrf/melas Overlap Syndrome

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Sources for Merrf/melas Overlap Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet