MCID: MTR058
MIFTS: 14

Maternally-Inherited Progressive External Ophthalmoplegia malady

Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Maternally-Inherited Progressive External Ophthalmoplegia

About this section
Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Maternally-Inherited Progressive External Ophthalmoplegia:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 51
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 51
 
Maternally-Inherited Cpeo 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

Orphanet51 663
ICD10 via Orphanet28 H49.4

Summaries for Maternally-Inherited Progressive External Ophthalmoplegia

About this section
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 ophthalmoplegia. An important gene associated with Maternally-Inherited Progressive External Ophthalmoplegia is MT-TS1 (Mitochondrially Encoded TRNA Serine 1 (UCN)), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye.

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia10.4
2ophthalmoplegia10.4
3atypical follicular adenoma9.9MT-TL1, MT-TS1
4mitochondrial complex iv deficiency9.9MT-TL1, MT-TN
5pinta disease9.8MT-TL1, MT-TS1
6infant gynecomastia9.8MT-TL1, MT-TL2
7mitochondrial membrane protein-associated neurodegeneration9.6MT-TL1, MT-TL2, MT-TS1
8malignant mixed epithelial mesenchymal tumor of ovary9.4MT-TL1, MT-TL2, MT-TN, MT-TS1

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



Diseases related to maternally-inherited progressive external ophthalmoplegia

Symptoms for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

Drugs & Therapeutics for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

Drugs for Maternally-Inherited Progressive External Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
3MRI Study - Chronic Progressive External OphthalmoplegiaRecruitingNCT02161848
4Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
5Natural History of Pearson SyndromeEnrolling by invitationNCT02327364

Search NIH Clinical Center for Maternally-Inherited Progressive External Ophthalmoplegia

Genetic Tests for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

Anatomical Context for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

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

33
Eye

Animal Models for Maternally-Inherited Progressive External Ophthalmoplegia or affiliated genes

About this section

Publications for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

Variations for Maternally-Inherited Progressive External Ophthalmoplegia

About this section

Expression for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

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

Pathways for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.0MT-TL1, MT-TL2, MT-TN, MT-TS1

GO Terms for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

About this section

Sources for Maternally-Inherited Progressive External Ophthalmoplegia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet