MCID: MTR058
MIFTS: 19

Maternally-Inherited Progressive External Ophthalmoplegia

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

Aliases & Classifications for Maternally-Inherited Progressive External Ophthalmoplegia

MalaCards integrated aliases for Maternally-Inherited Progressive External Ophthalmoplegia:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 59 6
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 59
Maternally-Inherited Cpeo 59

Characteristics:

Orphanet epidemiological data:

59
maternally-inherited progressive external ophthalmoplegia
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA663
ICD10 via Orphanet 34 H49.4
UMLS via Orphanet 74 C0162674

Summaries for Maternally-Inherited Progressive External Ophthalmoplegia

MalaCards based summary : Maternally-Inherited 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 Maternally-Inherited Progressive External Ophthalmoplegia is MT-TL2 (Mitochondrially Encoded TRNA Leucine 2 (CUN)), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include eye.

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

Diseases related to Maternally-Inherited Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 28.9 MT-TL2 POLG TWNK
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.0
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.0
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.0
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.0
6 mitochondrial dna-associated leigh syndrome and narp 10.0 MT-TL1 MT-TL2
7 mitochondrial encephalomyopathy 9.7 MT-TL1 MT-TL2
8 ataxia neuropathy spectrum 9.7 POLG TWNK
9 mitochondrial dna depletion syndrome 4a 9.6 POLG TWNK
10 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.6 POLG TWNK
11 diabetic polyneuropathy 9.6 POLG TWNK
12 autosomal dominant progressive external ophthalmoplegia 9.6 POLG TWNK
13 ocular motility disease 9.5 POLG TWNK
14 3-methylglutaconic aciduria, type v 9.5 POLG TWNK
15 mitochondrial complex iv deficiency 9.5 MT-TL1 MT-TN
16 axonal neuropathy 9.4 POLG TWNK
17 mitochondrial myopathy 9.1 MT-TL1 MT-TL2 POLG
18 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.0 MT-TL1 MT-TS1 POLG
19 neuropathy 9.0 POLG TWNK
20 kearns-sayre syndrome 9.0 MT-TL1 POLG TWNK
21 myoclonic epilepsy associated with ragged-red fibers 8.4 MT-TL1 MT-TS1 POLG TWNK
22 mitochondrial disorders 8.0 MT-TL1 MT-TL2 MT-TS1 POLG TWNK

Graphical network of the top 20 diseases related to Maternally-Inherited Progressive External Ophthalmoplegia:



Diseases related to Maternally-Inherited Progressive External Ophthalmoplegia

Symptoms & Phenotypes for Maternally-Inherited Progressive External Ophthalmoplegia

Drugs & Therapeutics for Maternally-Inherited Progressive External Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Maternally-Inherited Progressive External Ophthalmoplegia

Genetic Tests for Maternally-Inherited Progressive External Ophthalmoplegia

Anatomical Context for Maternally-Inherited Progressive External Ophthalmoplegia

MalaCards organs/tissues related to Maternally-Inherited Progressive External Ophthalmoplegia:

41
Eye

Publications for Maternally-Inherited Progressive External Ophthalmoplegia

Articles related to Maternally-Inherited Progressive External Ophthalmoplegia:

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

Variations for Maternally-Inherited Progressive External Ophthalmoplegia

ClinVar genetic disease variations for Maternally-Inherited Progressive External Ophthalmoplegia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
2 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
3 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 7486: 7486
4 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 7486: 7486
5 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 10, 102749088: 102749088
6 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 10, 100989331: 100989331

Expression for Maternally-Inherited Progressive External Ophthalmoplegia

Search GEO for disease gene expression data for Maternally-Inherited Progressive External Ophthalmoplegia.

Pathways for Maternally-Inherited Progressive External Ophthalmoplegia

Pathways related to Maternally-Inherited 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 Maternally-Inherited Progressive External Ophthalmoplegia

Cellular components related to Maternally-Inherited Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 POLG TWNK

Biological processes related to Maternally-Inherited Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 POLG TWNK
2 cellular response to glucose stimulus GO:0071333 8.96 POLG TWNK
3 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

Molecular functions related to Maternally-Inherited Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 POLG TWNK

Sources for Maternally-Inherited Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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