MCID: MTR058
MIFTS: 14

Maternally-Inherited Progressive External Ophthalmoplegia malady

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

Aliases & Classifications for Maternally-Inherited Progressive External Ophthalmoplegia

Aliases & Descriptions for Maternally-Inherited Progressive External Ophthalmoplegia:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 56
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 56
Maternally-Inherited Cpeo 56

Characteristics:

Orphanet epidemiological data:

56
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 56 ORPHA663
ICD10 via Orphanet 34 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 chronic progressive external ophthalmoplegia and myoclonic epilepsy associated with ragged-red fibers. 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:

id Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 10.0
2 myoclonic epilepsy associated with ragged-red fibers 9.8 MT-TL1 MT-TS1
3 microlissencephaly iii 9.8 MT-TL1 MT-TS1
4 multiple epiphyseal dysplasia with robin phenotype 9.7 MT-TL1 MT-TS1
5 nkx2-1-related disorders 9.6 MT-TL1 MT-TL2 MT-TS1
6 familial cold-induced inflammatory syndrome 1 9.6 MT-TL1 MT-TN MT-TS1
7 undifferentiated carcinoma of the corpus uteri 9.4 MT-TL1 MT-TL2 MT-TN MT-TS1

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554

Search 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:

39
Eye

Publications for Maternally-Inherited Progressive External Ophthalmoplegia

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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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