MCID: MRR006
MIFTS: 14

Merrf/melas Overlap Syndrome malady

Categories: Genetic diseases

Aliases & Classifications for Merrf/melas Overlap Syndrome

Aliases & Descriptions for Merrf/melas Overlap Syndrome:

Name: Merrf/melas Overlap Syndrome 24 29 69

Classifications:



Summaries for Merrf/melas Overlap Syndrome

MalaCards based summary : Merrf/melas Overlap Syndrome is related to dsg2-related dilated cardiomyopathy and mental retardation, obesity, mandibular prognathism, and eye and skin anomalies. An important gene associated with Merrf/melas Overlap Syndrome is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways/superpathways is tRNA Aminoacylation.

Related Diseases for Merrf/melas Overlap Syndrome

Graphical network of the top 20 diseases related to Merrf/melas Overlap Syndrome:



Diseases related to Merrf/melas Overlap Syndrome

Symptoms & Phenotypes for Merrf/melas Overlap Syndrome

Drugs & Therapeutics for Merrf/melas Overlap Syndrome

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

Genetic Tests for Merrf/melas Overlap Syndrome

Genetic tests related to Merrf/melas Overlap Syndrome:

id Genetic test Affiliating Genes
1 Merrf/melas Overlap Syndrome 29 24 MT-TH MT-TS1 MT-TS2

Anatomical Context for Merrf/melas Overlap Syndrome

Publications for Merrf/melas Overlap Syndrome

Articles related to Merrf/melas Overlap Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Merrf/melas Overlap Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TS2 m.12207G> A single nucleotide variant Pathogenic rs118203889 GRCh37 Chromosome MT, 12207: 12207
2 MT-TS1 m.7512T> C single nucleotide variant Pathogenic rs199474817 GRCh37 Chromosome MT, 7512: 7512
3 MT-TK m.8356T> C single nucleotide variant Pathogenic rs118192099 GRCh37 Chromosome MT, 8356: 8356
4 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
5 MT-TH m.12147G> A single nucleotide variant Pathogenic rs121434474 GRCh37 Chromosome MT, 12147: 12147

Expression for Merrf/melas Overlap Syndrome

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

Pathways for Merrf/melas Overlap Syndrome

Pathways related to Merrf/melas Overlap Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 MT-TH MT-TK MT-TL1 MT-TS1 MT-TS2

GO Terms for Merrf/melas Overlap Syndrome

Sources for Merrf/melas Overlap Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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