MCID: MRR006
MIFTS: 14

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 24 26 67

Classifications:



Summaries for Merrf/melas Overlap Syndrome

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MalaCards based summary: Merrf/melas Overlap Syndrome is related to mental retardation, obesity, mandibular prognathism, and eye and skin anomalies and mitochondrial membrane protein-associated neurodegeneration. 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.

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 Syndrome26 24 MT-TH, MT-TS1, MT-TS2

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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TKm.8356T> CSNVPathogenicrs118192099GRCh37Chr MT, 8356: 8356
2MT-TL1m.3243A> GSNVPathogenicrs199474657GRCh37Chr 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
7.5MT-TH, MT-TK, MT-TL1, MT-TS1, MT-TS2

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet