MCID: ATS025
MIFTS: 30

Autosomal Dominant Progressive External Ophthalmoplegia malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Eye diseases, Muscle diseases

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
24GeneTests, 31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 24 54
 
Adpeo 54

Classifications:



External Ids:

Orphanet54 ORPHA254892
ICD10 via Orphanet31 H49.4

Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

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MalaCards based summary: Autosomal Dominant Progressive External Ophthalmoplegia, also known as adpeo, is related to progressive external ophthalmoplegia, autosomal dominant 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways are Synthesis and interconversion of nucleotide di- and triphosphates and Mitochondrial protein import. Related mouse phenotypes are muscle and cellular.

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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Graphical network of diseases related to Autosomal Dominant Progressive External Ophthalmoplegia:



Diseases related to autosomal dominant progressive external ophthalmoplegia

Symptoms & Phenotypes for Autosomal Dominant Progressive External Ophthalmoplegia

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MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5OPA1, POLG, RRM2B, SLC25A4, TFAM
2MP:00053848.5DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

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Drugs for Autosomal Dominant Progressive External Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
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
cysteamine bitartrate
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

Search NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

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Genetic tests related to Autosomal Dominant Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia24 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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Publications for Autosomal Dominant Progressive External Ophthalmoplegia

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Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 22)
idTitleAuthorsYear
1
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. (24091712)
2013
2
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. (20880070)
2011
3
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. (21519523)
2011
4
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. (19705478)
2010
5
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. (19664747)
2009
6
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. (19853444)
2009
7
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. (18971204)
2009
8
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. (17272269)
2007
9
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (15792871)
2005
10
Two families with autosomal dominant progressive external ophthalmoplegia. (15258213)
2004
11
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. (15258572)
2004
12
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. (12921794)
2003
13
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. (12112115)
2002
14
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. (10364542)
1999
15
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. (10408540)
1999
16
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. (10522883)
1999
17
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. (9851061)
1998
18
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. (9443501)
1998
19
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. (9153451)
1997
20
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. (8609926)
1996
21
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. (8957011)
1996
22
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. (8941270)
1996

Variations for Autosomal Dominant Progressive External Ophthalmoplegia

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Expression for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Search GEO for disease gene expression data for Autosomal Dominant Progressive External Ophthalmoplegia.

Pathways for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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GO Terms for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Cellular components related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gamma DNA polymerase complexGO:000576010.5DNA2, POLG
2ribonucleoside-diphosphate reductase complexGO:00059719.7RRM1, RRM2B
3mitochondrial nucleoidGO:00426458.7DNA2, POLG, POLG2, POLRMT, TFAM
4mitochondrionGO:00057396.8OPA1, POLG, POLG2, POLRMT, RRM2B, SLC25A4

Biological processes related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1DNA biosynthetic processGO:007189710.5POLG, POLG2
2deoxyribonucleotide biosynthetic processGO:000926310.3RRM1, RRM2B
3adenine transportGO:001585310.2SLC25A4, SLC25A6
4mitochondrial genome maintenanceGO:000000210.2OPA1, SLC25A4
5mitochondrial DNA replicationGO:000626410.0DNA2, POLG, RRM2B
6nucleobase-containing small molecule interconversionGO:00159499.9RRM1, RRM2B
7DNA-dependent DNA replicationGO:00062619.8POLG, POLG2, TFAM
8DNA replicationGO:00062609.8DNA2, POLG2, RRM1
9transcription from mitochondrial promoterGO:00063909.0POLRMT, TFAM
10transcription initiation from mitochondrial promoterGO:00063919.0POLRMT, TFAM
11mitochondrion organizationGO:00070058.7OPA1, POLG2, POLRMT, TFAM

Molecular functions related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adenine transmembrane transporter activityGO:001520710.0SLC25A4, SLC25A6
2DNA-directed DNA polymerase activityGO:00038879.9POLG, POLG2
3ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptorGO:00047489.7RRM1, RRM2B

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet