ADPEO
MCID: ATS025
MIFTS: 47

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO) malady

Genetic diseases, Metabolic diseases, Rare diseases, Eye diseases categories
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Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

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MalaCards based summary: Autosomal Dominant Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, autosomal dominant, is related to ophthalmoplegia and hypogonadism, and has symptoms including 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.

Descriptions from OMIM:46 157640,609283,609286,610131,613077

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
20GeneTests, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
See all sources

Autosomal Dominant Progressive External Ophthalmoplegia, Aliases & Descriptions:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 20 48
Progressive External Ophthalmoplegia, Autosomal Dominant 46
 
Adpeo 48


Classifications:

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


External Ids:

ICD10 via Orphanet26 H49.4

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 for Autosomal Dominant Progressive External Ophthalmoplegia

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Symptoms by clinical synopsis from OMIM:

157640

Clinical features from OMIM:

157640,609283,609286,610131,613077

HPO human phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 40)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 testicular atrophy HP:0000029
3 sensorineural hearing impairment HP:0000407
4 ptosis HP:0000508
5 cataract HP:0000518
6 progressive external ophthalmoplegia HP:0000590
7 depression HP:0000716
8 primary amenorrhea HP:0000786
9 hypergonadotropic hypogonadism HP:0000815
10 secondary amenorrhea HP:0000869
11 dysarthria HP:0001260
12 hyporeflexia HP:0001265
13 pes cavus HP:0001761
14 dysphagia HP:0002015
15 rigidity HP:0002063
16 gait ataxia HP:0002066
17 bradykinesia HP:0002067
18 increased serum lactate HP:0002151
19 resting tremor HP:0002322
20 parkinsonism with favorable response to dopaminergic medication HP:0002548
21 gastroparesis HP:0002578
22 ragged-red muscle fibers HP:0003200
23 amyotrophy HP:0003202
24 progressive muscle weakness HP:0003323
25 sensory axonal neuropathy HP:0003390
26 emg HP:0003458
27 exercise intolerance HP:0003546
28 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
29 increased variability in muscle fiber diameter HP:0003557
30 adult onset HP:0003581
31 progressive disorder HP:0003676
32 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
33 multiple mitochondrial dna deletions HP:0003689
34 limb muscle weakness HP:0003690
35 muscle fiber necrosis HP:0003713
36 phenotypic variability HP:0003812
37 impaired distal proprioception HP:0006858
38 impaired distal vibration sensation HP:0006886
39 premature ovarian failure HP:0008209
40 facial palsy HP:0010628

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

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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

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 Ophthalmoplegia20 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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

32
Eye, Skeletal muscle

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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7SLC25A4, POLG, RRM2B, TFAM
2MP:00053808.3TFAM, C10orf2, POLG, POLG2, HELLS
3MP:00053858.2TFAM, C10orf2, RRM2B, POLG, SLC25A4
4MP:00107687.6TFAM, C10orf2, RRM2B, POLG, POLG2, HELLS
5MP:00053847.5SLC25A4, HELLS, POLG2, POLG, RRM2B, C10orf2

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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UniProtKB/Swiss-Prot genetic disease variations for Autosomal Dominant Progressive External Ophthalmoplegia:

64
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

Clinvar genetic disease variations for Autosomal Dominant Progressive External Ophthalmoplegia:

6
id Gene Name Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.2864A> G (p.Tyr955Cys)single nucleotide variantPathogenicrs113994099GRCh37Chr 15, 89864114: 89864114
2POLGNM_002693.2(POLG): c.2869G> T (p.Ala957Ser)single nucleotide variantPathogenicrs121918051GRCh37Chr 15, 89864109: 89864109
3POLGNM_002693.2(POLG): c.2492A> G (p.Tyr831Cys)single nucleotide variantPathogenicrs41549716GRCh37Chr 15, 89865073: 89865073
4POLGNM_002693.2(POLG): c.1532G> A (p.Ser511Asn)single nucleotide variantPathogenicrs121918055GRCh37Chr 15, 89870196: 89870196

Expression for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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

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

Compounds for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1abacavir50 44 1112.1POLG2, POLG
2lamivudine44 50 1112.0POLG, POLG2
3mgcl2449.9POLG, HELLS
4dttp449.9HELLS, POLG
5dctp44 2410.8HELLS, POLG
6dgtp44 2410.8HELLS, POLG
7Thymidine 5'-triphosphate249.7POLRMT, POLG
8hydroxyurea44 50 1111.6HELLS, RRM2B
9zidovudine44 50 1111.5POLG2, POLG
10diethyl dithiocarbamate449.5TFAM, POLG, POLG2
11clodronate44 50 1111.4SLC25A6, SLC25A4
12nucleoside449.1HELLS, POLG2, POLG, POLRMT
13glutamine449.0HELLS, POLG, TFAM
14cisplatin44 50 61 1111.9TFAM, RRM2B, HELLS
15oxygen44 249.8SLC25A4, POLG, RRM2B, TFAM
16adp44 28 2410.3SLC25A4, SLC25A6, HELLS, POLG, RRM2B
17atp44 288.7TFAM, POLG, POLG2, HELLS, SLC25A6, SLC25A4

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/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:0062649.5POLG, RRM2B, C10orf2
2transcription initiation from mitochondrial promoterGO:0063919.2POLRMT, TFAM
3energy reserve metabolic processGO:0061129.2SLC25A4, SLC25A6
4DNA-dependent DNA replicationGO:0062619.2TFAM, POLG, POLG2
5transcription from mitochondrial promoterGO:0063909.0POLRMT, C10orf2, TFAM
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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Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet