MCID: ATS025
MIFTS: 36

Autosomal Dominant Progressive External Ophthalmoplegia malady

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

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 22 51
 
Adpeo 51

Classifications:



External Ids:

Orphanet51 254892
ICD10 via Orphanet28 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 ophthalmoplegia and hypogonadism. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (Polymerase (DNA) Gamma, Catalytic Subunit), and among its related pathways are Cell Cycle Control of Chromosomal Replication and Gemcitabine, Pharmacokinetics/Pharmacodynamics Pathway. Affiliated tissues include eye, thyroid and lung, and related mouse phenotypes are muscle and cardiovascular system.

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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Diseases in the Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Recessive 1 Progressive External Ophthalmoplegia, Autosomal Dominant 1
Total Internal Ophthalmoplegia Chronic Progressive External Ophthalmoplegia
autosomal dominant progressive external ophthalmoplegia

Diseases related to Autosomal Dominant Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1ophthalmoplegia10.7
2hypogonadism10.2
3autoimmune addison disease10.2C10orf2, POLG
4prickle1-related progressive myoclonus epilepsy with ataxia10.1C10orf2, POLG
5progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.1
6progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 610.1
7progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.1
8progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.1
9progressive external ophthalmoplegia, autosomal dominant 110.1
10deafness, autosomal dominant 3010.1C10orf2, POLG
11hyperostosis cranialis interna10.1POLG, RRM2B
12hemorrhagic cystitis10.0C10orf2, POLG
13mitochondrial recessive ataxia syndrome9.9C10orf2, POLG, POLG2
14perrault syndrome 59.9C10orf2, POLG, SLC25A4
15ocular motility disease9.9C10orf2, POLG, SLC25A4
16hallucinogen abuse9.8C10orf2, POLG, SLC25A4
17thoracic outlet syndrome9.8C10orf2, TFAM
18ovarian serous cystadenofibroma9.7C10orf2, POLG, SLC25A4
19lipid-rich carcinoma9.7OPA1, POLG
20idiopathic juvenile osteoporosis9.6C10orf2, POLG, POLG2, SLC25A4
21mitochondrial membrane protein-associated neurodegeneration8.7C10orf2, OPA1, POLG, POLG2, SLC25A4, TFAM
22clear cell adenoma8.5C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B
23autosomal recessive juvenile amyotrophic lateral sclerosis6.3C10orf2, DNA2, OPA1, POLG, POLG2, POLRMT

Graphical network of the top 20 diseases related to Autosomal Dominant Progressive External Ophthalmoplegia:



Diseases related to autosomal dominant progressive external ophthalmoplegia

Symptoms for Autosomal Dominant Progressive External Ophthalmoplegia

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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 32360-23-16058
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
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 Ophthalmoplegia22 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Autosomal Dominant Progressive External Ophthalmoplegia:

33
Eye, Thyroid, Lung, Skin, Ovary, Endothelial, Myeloid

Animal Models for Autosomal Dominant Progressive External Ophthalmoplegia or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1OPA1, POLG, RRM2B, SLC25A4, TFAM
2MP:00053858.0C10orf2, OPA1, POLG, RRM2B, SLC25A4, TFAM
3MP:00053847.3C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B

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
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. (21519523)
2011
3
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. (20880070)
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
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. (18971204)
2009
7
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. (19853444)
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
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. (10408540)
1999
15
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. (10522883)
1999
16
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. (10364542)
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
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. (8957011)
1996
21
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. (8609926)
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
1mitochondrial nucleoidGO:00426459.3POLG, POLG2, POLRMT

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription from mitochondrial promoterGO:000639010.1C10orf2, POLRMT
2nucleobase-containing small molecule metabolic processGO:00550869.9RRM1, RRM2B
3nucleic acid phosphodiester bond hydrolysisGO:00903059.8DNA2, POLG
4mitochondrial DNA replicationGO:00062649.8DNA2, POLG, RRM2B
5mitochondrion organizationGO:00070059.6OPA1, TFAM
6organelle organizationGO:00069968.8C10orf2, POLG2, POLRMT, TFAM
7DNA replicationGO:00062608.7C10orf2, DNA2, POLG, POLG2, RRM1

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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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