ADPEO
MCID: ATS025
MIFTS: 47

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO) malady

Genetic diseases, Rare diseases categories

Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

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48OMIM, 34MalaCards
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MalaCards: Autosomal Dominant Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, autosomal dominant, is related to ophthalmoplegia and hypogonadism. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (polymerase (DNA directed), gamma), and among its related pathways are Nucleotide Metabolism and Mitochondrial Gene Expression. The compounds abacavir and lamivudine have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are muscle and embryogenesis.

Description from OMIM:48 157640,609283,609286,610131,613077

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

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21GeneTests, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

autosomal dominant progressive external ophthalmoplegia 21 50
progressive external ophthalmoplegia, autosomal dominant 48
adpeo 50


External Ids:

ICD10 via Orphanet27 H49.4

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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18GeneCards, 19GeneDecks
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Graphical network of 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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48OMIM
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Symptoms by clinical synopsis from OMIM:

157640

Clinical features from OMIM:

157640,609283,609286,610131,613077

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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

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21GeneTests
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Genetic tests related to Autosomal Dominant Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia21 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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34MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Progressive External Ophthalmoplegia:

34
Eye, Skeletal muscle

Animal Models for Autosomal Dominant Progressive External Ophthalmoplegia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7RRM2B, POLG, SLC25A4, TFAM
2MP:00053808.3TFAM, HELLS, POLG2, POLG, C10orf2
3MP:00053858.2TFAM, C10orf2, RRM2B, POLG, SLC25A4
4MP:00107687.6POLG2, POLG, RRM2B, C10orf2, HELLS, TFAM
5MP:00053847.5HELLS, TFAM, C10orf2, RRM2B, POLG, POLG2

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

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53PubMed
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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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65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Autosomal Dominant Progressive External Ophthalmoplegia:

65
id Symbol AA change Variation ID 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

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2BioGPS, 16Gene 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

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG
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Pathways related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8POLG, RRM2B
29.3POLRMT, TFAM
3
Show member pathways
9.2SLC25A4, SLC25A6
4
Show member pathways
9.2SLC25A4, SLC25A6
59.2SLC25A4, SLC25A6
6
Show member pathways
9.2SLC25A4, SLC25A6
7
Show member pathways
8.6TFAM, SLC25A6, SLC25A4
8
Show member pathways
8.2RRM2B, POLG, POLG2, SLC25A6, SLC25A4

Compounds for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
52PharmGKB, 46Novoseek, 12DrugBank, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1abacavir52 46 1212.1POLG, POLG2
2lamivudine46 52 1212.0POLG2, POLG
3mgcl2469.9HELLS, POLG
4dttp469.9HELLS, POLG
5dctp46 2510.8POLG, HELLS
6dgtp46 2510.8POLG, HELLS
7Thymidine 5'-triphosphate259.7POLG, POLRMT
8hydroxyurea46 52 1211.6RRM2B, HELLS
9zidovudine46 52 1211.5POLG, POLG2
10diethyl dithiocarbamate469.5POLG2, TFAM, POLG
11clodronate46 52 1211.4SLC25A4, SLC25A6
12nucleoside469.1HELLS, POLG2, POLG, POLRMT
13glutamine469.0HELLS, POLG, TFAM
14cisplatin46 52 62 1211.9TFAM, RRM2B, HELLS
15oxygen46 259.8SLC25A4, POLG, TFAM, RRM2B
16adp46 30 2510.3RRM2B, SLC25A4, SLC25A6, HELLS, POLG
17atp46 308.7POLG2, SLC25A4, HELLS, POLG, TFAM, SLC25A6

GO Terms for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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17Gene Ontology
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Cellular components related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.9SLC25A4, POLG, SLC25A6
2mitochondrial nucleoidGO:0426458.2TFAM, C10orf2, POLRMT, POLG, POLG2
3mitochondrionGO:0057397.4SLC25A4, TFAM, POLRMT, POLG, SLC25A6

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:0062649.5C10orf2, RRM2B, POLG
2transcription initiation from mitochondrial promoterGO:0063919.2TFAM, POLRMT
3energy reserve metabolic processGO:0061129.2SLC25A6, SLC25A4
4DNA-dependent DNA replicationGO:0062619.2TFAM, POLG, POLG2
5transcription from mitochondrial promoterGO:0063909.0TFAM, C10orf2, POLRMT
6regulation of insulin secretionGO:0507968.9SLC25A4, SLC25A6

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:0038879.8POLG2, POLG
2protease bindingGO:0020209.4C10orf2, POLG
3chromatin bindingGO:0036828.9HELLS, POLG, TFAM
4DNA bindingGO:0036778.8HELLS, POLG2, POLG, POLRMT

Products for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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  • Antibodies
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Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet