ADPEO
MCID: ATS025
MIFTS: 46

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 59
Adpeo 59

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 depressivity

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 hypogonadism 10.2
9 maternally-inherited progressive external ophthalmoplegia 10.2 POLG TWNK
10 mitochondrial neurogastrointestinal encephalomyopathy 10.2 POLG RRM2B
11 perrault syndrome 5 10.2 MRPL43 TWNK
12 myoclonic epilepsy myopathy sensory ataxia 10.2 MIR6766 POLG
13 mitochondrial dna depletion syndrome 10.1 POLG RRM2B TWNK
14 mitochondrial dna depletion syndrome 4a 10.1 POLG POLG2 TWNK
15 ataxia neuropathy spectrum 10.1 MRPL43 POLG TWNK
16 diabetic polyneuropathy 10.1 POLG TWNK
17 ichthyosis, x-linked 10.1
18 ichthyosis 10.1
19 ocular motility disease 10.1 POLG SLC25A4 TWNK
20 mitochondrial dna depletion syndrome 7 10.1 MRPL43 SLC25A4 TWNK
21 mitochondrial dna depletion syndrome 1 10.1 MIR6766 POLG
22 axonal neuropathy 10.1 POLG SLC25A4 TWNK
23 mitochondrial dna depletion syndrome 4b 10.0 FANCI MIR6766 POLG
24 myoclonic epilepsy associated with ragged-red fibers 10.0 POLG TFAM TWNK
25 muscular disease 10.0 POLG POLG2 SLC25A4 TWNK
26 3-methylglutaconic aciduria, type v 10.0 POLG TWNK
27 fanconi anemia, complementation group r 10.0 DNA2 FANCI
28 mitochondrial myopathy 9.9 POLG SLC25A4 TFAM
29 ptosis 9.9 OPA1 POLG RRM2B
30 mitochondrial disorders 9.9 OPA1 SLC25A4 TFAM
31 kearns-sayre syndrome 9.8 POLG RRM2B SLC25A4 TFAM TWNK
32 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 FANCI MIR6766 MRPL43 POLG TWNK
33 mitochondrial metabolism disease 9.5 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:

59 32 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 diabetes mellitus 59 32 very rare (1%) Very rare (<4-1%) HP:0000819
4 hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000821
5 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
6 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
7 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
8 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
9 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
10 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
11 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
12 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 hypertonia 59 32 very rare (1%) Very rare (<4-1%) HP:0001276
14 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
15 cognitive impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0100543
16 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
17 osteoporosis 59 32 very rare (1%) Very rare (<4-1%) HP:0000939
18 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0003236
19 edema 59 32 very rare (1%) Very rare (<4-1%) HP:0000969
20 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
21 glucose intolerance 59 32 occasional (7.5%) Occasional (29-5%) HP:0000833
22 gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002066
23 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
24 hyperthyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000836
25 goiter 59 32 very rare (1%) Very rare (<4-1%) HP:0000853
26 migraine 59 32 very rare (1%) Very rare (<4-1%) HP:0002076
27 increased serum lactate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002151
28 gastroparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002578
29 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
30 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
31 mitochondrial myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003737
32 easy fatigability 59 32 occasional (7.5%) Occasional (29-5%) HP:0003388
33 left ventricular hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001712
34 muscle cramps 59 32 very rare (1%) Very rare (<4-1%) HP:0003394
35 bipolar affective disorder 59 32 very rare (1%) Very rare (<4-1%) HP:0007302
36 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
37 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
38 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
39 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
40 hypokinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002375
41 reduced ejection fraction 59 32 occasional (7.5%) Occasional (29-5%) HP:0012664
42 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
43 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
44 exercise intolerance 59 32 frequent (33%) Frequent (79-30%) HP:0003546
45 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
46 external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000544
47 difficulty climbing stairs 59 32 occasional (7.5%) Occasional (29-5%) HP:0003551
48 peripheral axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003477
49 atrial fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005110
50 exertional dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002875

MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 DNA2 OPA1 POLG POLG2 POLRMT RRM2B
2 cardiovascular system MP:0005385 9.8 OPA1 POLG POLRMT RRM2B SLC25A4 TFAM
3 mortality/aging MP:0010768 9.65 DNA2 FANCI OPA1 POLG POLG2 POLRMT
4 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:

41
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
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? ( 28690391 )
2017
3
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. ( 24091712 )
2013
4
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. ( 20880070 )
2011
5
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. ( 21519523 )
2011
6
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria. ( 21586654 )
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
9 protein binding GO:0005515 10.23 DNA2 FANCI MRPL43 OPA1 POLG POLG2

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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