ADPEO
MCID: ATS025
MIFTS: 43

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO)

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

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards integrated aliases for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 60
Adpeo 60

Classifications:



Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards based summary : Autosomal Dominant Progressive External Ophthalmoplegia, also known as adpeo, is related to chronic progressive external ophthalmoplegia and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitochondrial Gene Expression. Affiliated tissues include eye and liver, and related phenotypes are ptosis and external ophthalmoplegia

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

Diseases in the Total Internal Ophthalmoplegia family:

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 33)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 31.0 POLG POLG2 RRM2B SLC25A4 TWNK
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 12.0
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 12.0
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 12.0
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.6
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.6
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.2
8 perrault syndrome 5 10.3 MRPL43 TWNK
9 hypogonadism 10.3
10 myoclonic epilepsy myopathy sensory ataxia 10.2 MIR6766 POLG
11 mitochondrial neurogastrointestinal encephalomyopathy 10.2 POLG RRM2B
12 mitochondrial dna depletion syndrome 10.2 POLG RRM2B TWNK
13 mitochondrial dna depletion syndrome 4a 10.2 POLG POLG2 TWNK
14 ataxia neuropathy spectrum 10.2 MRPL43 POLG TWNK
15 diabetic polyneuropathy 10.2 POLG TWNK
16 ocular motility disease 10.2 POLG SLC25A4 TWNK
17 mitochondrial dna depletion syndrome 7 10.2 MRPL43 SLC25A4 TWNK
18 mitochondrial dna depletion syndrome 1 10.1 MIR6766 POLG
19 axonal neuropathy 10.1 POLG SLC25A4 TWNK
20 ichthyosis, x-linked 10.1
21 ichthyosis 10.1
22 dystonia 10.1
23 mitochondrial dna depletion syndrome 4b 10.0 FANCI MIR6766 POLG
24 muscular disease 10.0 POLG POLG2 SLC25A4 TWNK
25 3-methylglutaconic aciduria, type v 10.0 POLG TWNK
26 fanconi anemia, complementation group r 10.0 DNA2 FANCI
27 ptosis 9.9 OPA1 POLG RRM2B
28 myoclonic epilepsy associated with ragged-red fibers 9.8 POLG TFAM TWNK
29 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.7 FANCI MIR6766 MRPL43 POLG TWNK
30 mitochondrial myopathy 9.7 POLG SLC25A4 TFAM
31 mitochondrial disorders 9.7 OPA1 SLC25A4 TFAM
32 kearns-sayre syndrome 9.6 POLG RRM2B SLC25A4 TFAM TWNK
33 mitochondrial metabolism disease 9.2 OPA1 POLG POLG2 RRM2B SLC25A4 TFAM

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



Diseases related to Autosomal Dominant Progressive External Ophthalmoplegia

Symptoms & Phenotypes for Autosomal Dominant Progressive External Ophthalmoplegia

Human phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

60 33 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 external ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000544
3 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
4 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
5 ragged-red muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003200
6 mitochondrial myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003737
7 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
8 exercise intolerance 60 33 frequent (33%) Frequent (79-30%) HP:0003546
9 quadriceps muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003731
10 abnormality of the mitochondrion 60 33 frequent (33%) Frequent (79-30%) HP:0012103
11 hypomimic face 60 33 frequent (33%) Frequent (79-30%) HP:0000338
12 resting tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002322
13 cytochrome c oxidase-negative muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003688
14 shoulder girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003547
15 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
16 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
17 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
18 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
19 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
20 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
21 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
22 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
23 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
24 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
25 gait ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002066
26 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
27 increased serum lactate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002151
28 gastroparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002578
29 myalgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003326
30 easy fatigability 60 33 occasional (7.5%) Occasional (29-5%) HP:0003388
31 left ventricular hypertrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001712
32 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
33 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
34 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
35 hypokinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002375
36 reduced ejection fraction 60 33 occasional (7.5%) Occasional (29-5%) HP:0012664
37 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
38 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
39 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359
40 difficulty climbing stairs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003551
41 peripheral axonal neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003477
42 atrial fibrillation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005110
43 exertional dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002875
44 cogwheel rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002396
45 ventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0004308
46 focal white matter lesions 60 33 occasional (7.5%) Occasional (29-5%) HP:0007042
47 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
48 diabetes mellitus 60 33 very rare (1%) Very rare (<4-1%) HP:0000819
49 hypothyroidism 60 33 very rare (1%) Very rare (<4-1%) HP:0000821
50 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250

MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 DNA2 OPA1 POLG POLG2 POLRMT RRM2B
2 mortality/aging MP:0010768 9.65 DNA2 FANCI OPA1 POLG POLG2 POLRMT
3 muscle MP:0005369 9.1 OPA1 POLG POLRMT RRM2B SLC25A4 TFAM

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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

42
Eye, Liver

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 26)
# Title Authors Year
1
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase. ( 30496414 )
2018
2
Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene. ( 30838265 )
2017
3
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? ( 28690391 )
2017
4
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. ( 24091712 )
2013
5
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. ( 20880070 )
2011
6
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. ( 21519523 )
2011
7
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. ( 19705478 )
2010
8
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. ( 19853444 )
2009
9
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. ( 19664747 )
2009
10
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. ( 18971204 )
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
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. ( 15258572 )
2004
14
Two families with autosomal dominant progressive external ophthalmoplegia. ( 15258213 )
2004
15
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. ( 12921794 )
2003
16
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
17
Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes. ( 11445082 )
2001
18
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. ( 10364542 )
1999
19
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. ( 10522883 )
1999
20
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. ( 10408540 )
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
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8941270 )
1996
25
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8609926 )
1996
26
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. ( 8957011 )
1996

Variations for Autosomal Dominant Progressive External Ophthalmoplegia

Expression for Autosomal Dominant Progressive External Ophthalmoplegia

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

Pathways for Autosomal Dominant Progressive External Ophthalmoplegia

GO Terms for Autosomal Dominant Progressive External Ophthalmoplegia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 DNA2 MRPL43 OPA1 POLG POLG2 POLRMT
2 mitochondrial inner membrane GO:0005743 9.62 MRPL43 OPA1 SLC25A4 SLC25A6
3 mitochondrial matrix GO:0005759 9.56 POLG2 POLRMT TFAM TWNK
4 gamma DNA polymerase complex GO:0005760 9.16 DNA2 POLG
5 mitochondrial nucleoid GO:0042645 9.1 DNA2 POLG POLG2 POLRMT TFAM TWNK

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.81 DNA2 FANCI POLG2 RRM2B
2 cellular response to glucose stimulus GO:0071333 9.63 OPA1 POLG TWNK
3 DNA biosynthetic process GO:0071897 9.55 POLG POLG2
4 mitochondrion organization GO:0007005 9.55 OPA1 POLG2 POLRMT TFAM TWNK
5 DNA-dependent DNA replication GO:0006261 9.54 POLG POLG2
6 mitochondrion morphogenesis GO:0070584 9.52 OPA1 POLG2
7 ATP transport GO:0015867 9.49 SLC25A4 SLC25A6
8 mitochondrial genome maintenance GO:0000002 9.48 OPA1 SLC25A4
9 ADP transport GO:0015866 9.43 SLC25A4 SLC25A6
10 mitochondrial transcription GO:0006390 9.43 POLRMT TFAM TWNK
11 DNA replication GO:0006260 9.43 DNA2 POLG POLG2 RRM1 RRM2B TWNK
12 adenine transport GO:0015853 9.4 SLC25A4 SLC25A6
13 deoxyribonucleotide biosynthetic process GO:0009263 9.37 RRM1 RRM2B
14 transcription initiation from mitochondrial promoter GO:0006391 9.32 POLRMT TFAM
15 mitochondrial DNA replication GO:0006264 9.02 DNA2 POLG POLG2 RRM2B TWNK

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

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.54 POLG POLG2 POLRMT
2 DNA-directed DNA polymerase activity GO:0003887 9.43 POLG POLG2
3 DNA helicase activity GO:0003678 9.4 DNA2 TWNK
4 ATP:ADP antiporter activity GO:0005471 9.32 SLC25A4 SLC25A6
5 5'-3' DNA helicase activity GO:0043139 9.26 DNA2 TWNK
6 adenine transmembrane transporter activity GO:0015207 9.16 SLC25A4 SLC25A6
7 mitochondrial promoter sequence-specific DNA binding GO:0001018 8.96 POLRMT TFAM
8 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor GO:0004748 8.62 RRM1 RRM2B

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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