MCID: ATS025
MIFTS: 30

Autosomal Dominant Progressive External Ophthalmoplegia

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

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards integrated aliases for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 55
Adpeo 55

Classifications:



External Ids:

Orphanet 55 ORPHA254892
ICD10 via Orphanet 33 H49.4

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. Related phenotypes are cellular and mortality/aging

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 25)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 30.6 POLG POLG2 SLC25A4 TWNK
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.8
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.8
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.3
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.3
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.1
8 mitochondrial neurogastrointestinal encephalomyopathy 10.2 POLG RRM2B
9 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1 POLG TWNK
10 mitochondrial dna depletion syndrome 7 10.1 SLC25A4 TWNK
11 hypogonadism 10.1
12 diabetic polyneuropathy 10.0 POLG TWNK
13 mitochondrial dna depletion syndrome 4a 10.0 POLG POLG2 TWNK
14 ichthyosis, x-linked 10.0
15 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
16 ichthyosis 10.0
17 3-methylglutaconic aciduria, type v 10.0 POLG TWNK
18 ocular motility disease 9.9 POLG SLC25A4 TWNK
19 axonal neuropathy 9.9 POLG SLC25A4 TWNK
20 mitochondrial myopathy 9.7 POLG SLC25A4 TFAM
21 myoclonic epilepsy associated with ragged-red fibers 9.6 TFAM TWNK
22 myopathy 9.6 POLG POLG2 SLC25A4 TWNK
23 mitochondrial metabolism disease 9.4 OPA1 POLG RRM2B SLC25A4 TWNK
24 kearns-sayre syndrome 9.3 POLG RRM2B SLC25A4 TFAM TWNK
25 mitochondrial disorders 8.7 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

MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 DNA2 OPA1 POLG POLG2 RRM2B SLC25A4
2 mortality/aging MP:0010768 9.56 RRM1 RRM2B TFAM TWNK DNA2 OPA1
3 muscle MP:0005369 9.02 OPA1 POLG 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

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 22)
# Title Authors Year
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
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. ( 18971204 )
2009
6
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. ( 19664747 )
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
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. ( 10364542 )
1999
15
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. ( 10522883 )
1999
16
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. ( 10408540 )
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
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8941270 )
1996
22
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8609926 )
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 9.65 DNA2 OPA1 POLG POLG2 POLRMT RRM2B
2 mitochondrial matrix GO:0005759 9.62 POLG2 POLRMT TFAM TWNK
3 ribonucleoside-diphosphate reductase complex GO:0005971 9.26 RRM1 RRM2B
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 16)
# Name GO ID Score Top Affiliating Genes
1 cellular response to glucose stimulus GO:0071333 9.63 OPA1 POLG TWNK
2 DNA biosynthetic process GO:0071897 9.56 POLG POLG2
3 nucleobase-containing small molecule interconversion GO:0015949 9.55 RRM1 RRM2B
4 mitochondrion organization GO:0007005 9.55 OPA1 POLG2 POLRMT TFAM TWNK
5 mitochondrion morphogenesis GO:0070584 9.54 OPA1 POLG2
6 regulation of mitochondrial membrane permeability GO:0046902 9.52 SLC25A4 SLC25A6
7 mitochondrial genome maintenance GO:0000002 9.51 OPA1 SLC25A4
8 DNA-dependent DNA replication GO:0006261 9.5 POLG POLG2 TFAM
9 ATP transport GO:0015867 9.49 SLC25A4 SLC25A6
10 ADP transport GO:0015866 9.48 SLC25A4 SLC25A6
11 adenine transport GO:0015853 9.43 SLC25A4 SLC25A6
12 mitochondrial transcription GO:0006390 9.43 POLRMT TFAM TWNK
13 DNA replication GO:0006260 9.43 DNA2 POLG POLG2 RRM1 RRM2B TWNK
14 transcription initiation from mitochondrial promoter GO:0006391 9.4 POLRMT TFAM
15 deoxyribonucleotide biosynthetic process GO:0009263 9.37 RRM1 RRM2B
16 mitochondrial DNA replication GO:0006264 8.92 DNA2 POLG 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 9.5 POLG POLG2 POLRMT
2 DNA-directed DNA polymerase activity GO:0003887 9.4 POLG POLG2
3 DNA helicase activity GO:0003678 9.37 DNA2 TWNK
4 5-3 DNA helicase activity GO:0043139 9.26 DNA2 TWNK
5 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor GO:0004748 9.16 RRM1 RRM2B
6 adenine transmembrane transporter activity GO:0015207 8.96 SLC25A4 SLC25A6
7 ATP:ADP antiporter activity GO:0005471 8.62 SLC25A4 SLC25A6

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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