ADPEO
MCID: ATS025
MIFTS: 38

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO) malady

Metabolic category

Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

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47OMIM, 33MalaCards
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MalaCards: Autosomal Dominant Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, autosomal dominant, is related to autosomal dominant disease and autosomal genetic disease. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (polymerase (DNA directed), gamma), and among its related pathways are Gemcitabine Pathway, Pharmacodynamics and superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli). The compounds abacavir and mgcl2 have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are adipose tissue and muscle.

Description from OMIM:47 157640,609283,609286,610131,613077

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
20GeneTests, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

autosomal dominant progressive external ophthalmoplegia 20 49
progressive external ophthalmoplegia, autosomal dominant 47
adpeo 49


External Ids:

ICD10 via Orphanet26 H49.4

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Autosomal Dominant Progressive External Ophthalmoplegia:



Diseases related to autosomal dominant progressive external ophthalmoplegia

Clinical Features for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
47OMIM
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Clinical features from OMIM:

157640,609283,609286,610131,613077

Clinical synopsis from OMIM:

157640

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Autosomal Dominant Progressive External Ophthalmoplegia

Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Progressive External Ophthalmoplegia

Search NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Search CenterWatch for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
20GeneTests
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Genetic tests related to Autosomal Dominant Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia20 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
33MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Progressive External Ophthalmoplegia:

33
Skeletal muscle

Animal Models for Autosomal Dominant Progressive External Ophthalmoplegia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.4HELLS, OPA1, POLG, RRM2B
2MP:00053698.3TFAM, OPA1, POLG, RRM2B, SLC25A4
3MP:00053858.1C10orf2, TFAM, OPA1, POLG, RRM2B, SLC25A4
4MP:00053808.0C10orf2, HELLS, TFAM, OPA1, POLG, POLG2
5MP:00107687.6RRM2B, POLG2, POLG, OPA1, TFAM, HELLS
6MP:00053847.4SLC25A4, C10orf2, HELLS, TFAM, OPA1, POLG

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
51PubMed
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Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 27)
idTitleAuthorsYear
1
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. (24091712)
2013
2
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. (23719791)
2013
3
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. (21519523)
2011
4
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. (20880070)
2011
5
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. (19705478)
2010
6
Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina. (19687137)
2009
7
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. (19664747)
2009
8
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. (18971204)
2009
9
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. (19853444)
2009
10
Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. (19428252)
2009
11
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. (17272269)
2007
12
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (15792871)
2005
13
Two families with autosomal dominant progressive external ophthalmoplegia. (15258213)
2004
14
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. (15258572)
2004
15
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. (12921794)
2003
16
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. (12210792)
2002
17
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
18
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. (10408540)
1999
19
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. (10522883)
1999
20
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. (10364542)
1999
21
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
22
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. (9443501)
1998
23
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. (9153451)
1997
24
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. (8957008)
1996
25
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. (8957011)
1996
26
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. (8609926)
1996
27
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. (8941270)
1996

Genetic Variations for Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Dominant Progressive External Ophthalmoplegia:

63
id Symbol AA change Variation SNP ID
1POLGp.Tyr955CysVAR_012156
2POLGp.Tyr831CysVAR_023674rs4154971
3POLGp.Gly923AspVAR_023678
4POLGp.Arg943HisVAR_023680
5POLGp.Arg953CysVAR_023681rs11546842
6POLGp.Ala957SerVAR_023682
7POLGp.Ser1176LeuVAR_023690
8POLGp.Ser511AsnVAR_058878
9POLGp.Asp1186HisVAR_065119

Expression for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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

Pathways for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore
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Pathways related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RRM2B, RRM1
2
Hide members
9.6RRM2B, RRM1
3
Hide members
9.6RRM1, RRM2B
4
Glutathione metabolism
Hide members
9.6RRM1, RRM2B
59.6TFAM, POLRMT
6
Hide members
9.6POLRMT, TFAM
79.4RRM1, RRM2B, POLG
89.3SLC25A6, SLC25A4
99.3SLC25A4, SLC25A6
109.3SLC25A4, SLC25A6
11
Hide members
9.2RRM1, RRM2B, POLRMT
12
Hide members
8.4SLC25A4, SLC25A6, RRM1, RRM2B

Compounds for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1abacavir45 50 1112.1POLG2, POLG
2mgcl2459.9HELLS, POLG
3dcdp45 2410.8RRM1, RRM2B
4dttp459.8HELLS, POLG
5Cladribine119.8RRM2B, RRM1
6diethyl dithiocarbamate459.7TFAM, POLG, POLG2
7dctp45 2410.7POLG, HELLS
8lamivudine45 1110.6POLG2, POLG
9dgtp45 2410.6HELLS, POLG
10hydroxyurea45 50 1111.4RRM1, RRM2B, HELLS
11clodronate45 50 1111.3SLC25A4, SLC25A6
12Adenosine triphosphate11 249.9SLC25A4, RRM1, RRM2B, POLRMT
13cisplatin45 50 60 1111.8HELLS, TFAM, RRM2B, RRM1
14nucleoside458.7HELLS, POLRMT, POLG, POLG2, RRM1
15adp45 29 249.9HELLS, POLG, RRM2B, RRM1, SLC25A6, SLC25A4
16atp45 297.9SLC25A4, HELLS, TFAM, OPA1, POLG, POLG2

GO Terms for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

Sources:
16Gene Ontology
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Cellular components related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426458.6POLG2, POLG, POLRMT, TFAM, C10orf2
2mitochondrial inner membraneGO:0057438.4SLC25A4, SLC25A6, POLG, OPA1
3mitochondrionGO:0057397.7TFAM, OPA1, POLRMT, POLG, POLG2, SLC25A4

Biological processes related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:0062649.6RRM2B, POLG, C10orf2
2nucleobase-containing small molecule interconversionGO:0159499.6RRM1, RRM2B
3transcription initiation from mitochondrial promoterGO:0063919.5POLRMT, TFAM
4DNA-dependent DNA replicationGO:0062619.4TFAM, POLG, POLG2
5deoxyribonucleotide biosynthetic processGO:0092639.3RRM1, RRM2B
6transcription from mitochondrial promoterGO:0063909.3POLRMT, TFAM, C10orf2

Molecular functions related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:0038879.9POLG2, POLG
2protease bindingGO:0020209.8POLG, C10orf2
3ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptorGO:0047489.7RRM1, RRM2B
4chromatin bindingGO:0036828.9POLG, TFAM, HELLS
5protein bindingGO:0055156.9HELLS, TFAM, OPA1, POLRMT, POLG, POLG2

Products for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Sources for Autosomal Dominant Progressive External Ophthalmoplegia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet