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 58
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 58
Mtdna-Related Progressive External Ophthalmoplegia 58
Maternally-Inherited Cpeo 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna-related progressive external ophthalmoplegia
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 H49.4
UMLS via Orphanet 72 C0162674
Orphanet 58 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 MT-TL2 (Mitochondrially Encoded TRNA-Leu (CUN) 2), 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:

58 31 (showing 19, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive external ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000590
2 muscle abnormality related to mitochondrial dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0003800
3 hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000821
4 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
5 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
6 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
7 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
8 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
9 abnormal mitochondria in muscle tissue 58 31 frequent (33%) Frequent (79-30%) HP:0008316
10 progressive proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009073
11 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
12 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
13 restrictive ventilatory defect 31 frequent (33%) HP:0002091
14 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
15 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
16 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
17 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
18 diplopia 58 Excluded (0%)
19 restrictive deficit on pulmonary function testing 58 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:

40
Eye, Testes

Publications for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

Articles related to Mitochondrial Dna-Related Progressive External Ophthalmoplegia:

(showing 1, show less)
# Title Authors PMID Year
1
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. 61
2515390 1989

Variations for Mitochondrial Dna-Related Progressive External Ophthalmoplegia

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:

(showing 1, show less)
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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