MCID: ATS025
MIFTS: 32

Autosomal Dominant Progressive External Ophthalmoplegia

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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit). Affiliated tissues include eye and liver, and related phenotypes are ptosis and external ophthalmoplegia

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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 83)
# 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 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
37 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
38 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359
39 difficulty climbing stairs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003551
40 peripheral axonal neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003477
41 atrial fibrillation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005110
42 exertional dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002875
43 cogwheel rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002396
44 ventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0004308
45 focal white matter lesions 60 33 occasional (7.5%) Occasional (29-5%) HP:0007042
46 reduced ejection fraction 60 33 occasional (7.5%) Occasional (29-5%) HP:0012664
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

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 34)
# Title Authors Year
1
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase. ( 30496414 )
2019
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 )
2014
5
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. ( 22155748 )
2012
6
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. ( 20880070 )
2011
7
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. ( 21519523 )
2011
8
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria. ( 21586654 )
2011
9
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. ( 19705478 )
2010
10
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. ( 20479361 )
2010
11
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. ( 18971204 )
2009
12
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. ( 19664747 )
2009
13
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. ( 19853444 )
2009
14
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO. ( 18989381 )
2008
15
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. ( 17272269 )
2007
16
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. ( 15792871 )
2005
17
Two families with autosomal dominant progressive external ophthalmoplegia. ( 15258213 )
2004
18
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. ( 15258572 )
2004
19
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. ( 15016764 )
2004
20
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. ( 12921794 )
2003
21
The V368i mutation in Twinkle does not segregate with AdPEO. ( 12557300 )
2003
22
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
23
Clinical and molecular features of adPEO due to mutations in the Twinkle gene. ( 12163192 )
2002
24
Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes. ( 11445082 )
2001
25
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. ( 11756613 )
2001
26
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. ( 10364542 )
1999
27
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. ( 10408540 )
1999
28
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. ( 10522883 )
1999
29
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. ( 9443501 )
1998
30
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
31
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. ( 9153451 )
1997
32
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8609926 )
1996
33
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8941270 )
1996
34
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

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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