MCID: MRR006
MIFTS: 14

Merrf/melas Overlap Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Merrf/melas Overlap Syndrome

About this section

Aliases & Descriptions for Merrf/melas Overlap Syndrome:

Name: Merrf/melas Overlap Syndrome 23 25 66

Classifications:



Summaries for Merrf/melas Overlap Syndrome

About this section
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

About this section

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



Diseases related to merrf/melas overlap syndrome

Symptoms for Merrf/melas Overlap Syndrome

About this section

Drugs & Therapeutics for Merrf/melas Overlap Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Merrf/melas Overlap Syndrome

Genetic Tests for Merrf/melas Overlap Syndrome

About this section

Genetic tests related to Merrf/melas Overlap Syndrome:

id Genetic test Affiliating Genes
1 Merrf/melas Overlap Syndrome25 23 MT-TH

Anatomical Context for Merrf/melas Overlap Syndrome

About this section

Animal Models for Merrf/melas Overlap Syndrome or affiliated genes

About this section

Publications for Merrf/melas Overlap Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Merrf/melas Overlap Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243

Expression for genes affiliated with Merrf/melas Overlap Syndrome

About this section
Search GEO for disease gene expression data for Merrf/melas Overlap Syndrome.

Pathways for genes affiliated with Merrf/melas Overlap Syndrome

About this section

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

About this section

Sources for Merrf/melas Overlap Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet