MCID: MTC181
MIFTS: 21

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 59
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 59
Mtdna-Related Progressive External Ophthalmoplegia 59
Maternally-Inherited Cpeo 59

Characteristics:

Orphanet epidemiological data:

59
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 34 H49.4
UMLS via Orphanet 73 C0162674
Orphanet 59 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 kearns-sayre syndrome. An important gene associated with Mitochondrial Dna-Related Progressive External Ophthalmoplegia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include eye and testes, 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000590
2 muscle abnormality related to mitochondrial dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0003800
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0000821
5 respiratory insufficiency due to muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002747
6 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
7 increased serum lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002151
8 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
9 abnormal mitochondria in muscle tissue 59 32 frequent (33%) Frequent (79-30%) HP:0008316
10 axial muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003327
11 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
12 progressive proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009073
13 restrictive deficit on pulmonary function testing 59 32 frequent (33%) Frequent (79-30%) HP:0002111
14 mildly elevated creatine kinase 32 frequent (33%) HP:0008180
15 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
16 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
17 diplopia 59 Excluded (0%)
18 mildly elevated creatine phosphokinase 59 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:

41
Eye, Testes

Publications for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Articles related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

# Title Authors PMID Year
1
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. 38
2515390 1989

Variations for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 15:89866691-89866691 15:89323460-89323460

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-TS1 MT-TN MT-TL2 MT-TL1

GO Terms for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Sources for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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