MCID: MTC181
MIFTS: 24

Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

MalaCards integrated aliases for Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

Name: Mitochondrial Dna-Related Progressive External Ophthalmoplegia 60
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 60
Mtdna-Related Progressive External Ophthalmoplegia 60
Maternally-Inherited Cpeo 60

Characteristics:

Orphanet epidemiological data:

60
mitochondrial dna-related progressive external ophthalmoplegia
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 H49.4
UMLS via Orphanet 75 C0162674
Orphanet 60 ORPHA663

Summaries for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

MalaCards based summary : Mitochondrial Dna-Related Progressive External Ophthalmoplegia, also known as maternally-inherited chronic progressive external ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1. An important gene associated with Mitochondrial Dna-Related Progressive External Ophthalmoplegia is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include testes and eye, and related phenotypes are progressive external ophthalmoplegia and muscle abnormality related to mitochondrial dysfunction

Related Diseases for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Graphical network of the top 20 diseases related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia:



Diseases related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Symptoms & Phenotypes for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Human phenotypes related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive external ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000590
2 muscle abnormality related to mitochondrial dysfunction 60 33 hallmark (90%) Very frequent (99-80%) HP:0003800
3 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
4 hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000821
5 respiratory insufficiency due to muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002747
6 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
7 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
8 ragged-red muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003200
9 abnormal mitochondria in muscle tissue 60 33 frequent (33%) Frequent (79-30%) HP:0008316
10 axial muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003327
11 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348
12 progressive proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009073
13 restrictive deficit on pulmonary function testing 60 33 frequent (33%) Frequent (79-30%) HP:0002111
14 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
15 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
16 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
17 diplopia 60 Excluded (0%)
18 mildly elevated creatine phosphokinase 60 Frequent (79-30%)

Drugs & Therapeutics for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Genetic Tests for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Anatomical Context for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

MalaCards organs/tissues related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

42
Testes, Eye

Publications for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Articles related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

# Title Authors Year
1
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. ( 2515390 )
1989

Variations for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

ClinVar genetic disease variations for Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
2 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
3 RRM2B NM_015713.4(RRM2B): c.606T> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs515726194 GRCh37 Chromosome 8, 103231120: 103231120
4 RRM2B NM_015713.4(RRM2B): c.606T> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs515726194 GRCh38 Chromosome 8, 102218892: 102218892
5 RRM2B NM_015713.4(RRM2B): c.817G> A (p.Gly273Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906891 GRCh37 Chromosome 8, 103225090: 103225090
6 RRM2B NM_015713.4(RRM2B): c.817G> A (p.Gly273Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906891 GRCh38 Chromosome 8, 102212862: 102212862
7 RRM2B NM_015713.4(RRM2B): c.97C> T (p.Pro33Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906892 GRCh37 Chromosome 8, 103244484: 103244484
8 RRM2B NM_015713.4(RRM2B): c.97C> T (p.Pro33Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906892 GRCh38 Chromosome 8, 102232256: 102232256
9 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance rs1556423295 GRCh37 Chromosome MT, 7486: 7486
10 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance rs1556423295 GRCh38 Chromosome MT, 7486: 7486
11 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1554887097 GRCh37 Chromosome 10, 102749088: 102749088
12 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1554887097 GRCh38 Chromosome 10, 100989331: 100989331

Expression for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Search GEO for disease gene expression data for Mitochondrial Dna-Related Progressive External Ophthalmoplegia.

Pathways for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Pathways related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 MT-TL1 MT-TL2 MT-TN MT-TS1

GO Terms for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Sources for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

3 CDC
7 CNVD
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10 dbSNP
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75 UMLS via Orphanet
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