MCID: MTR058
MIFTS: 16

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 55
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 55
Maternally-Inherited Cpeo 55

Characteristics:

Orphanet epidemiological data:

55
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 55 ORPHA663
UMLS via Orphanet 70 C0162674
ICD10 via Orphanet 33 H49.4

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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2. An important gene associated with Maternally-Inherited Progressive External Ophthalmoplegia is MT-TS1 (Mitochondrially Encoded TRNA Serine 1 (UCN)), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include eye.

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

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:

38
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

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

Sources for Maternally-Inherited Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....