MCID: ATS025
MIFTS: 30

Autosomal Dominant Progressive External Ophthalmoplegia

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



External Ids:

Orphanet 59 ORPHA254892
ICD10 via Orphanet 34 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 cardiovascular system

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 29)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 31.0 POLG POLG2 SLC25A4 TWNK
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.9
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.9
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.9
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.4
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.4
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.1
8 maternally-inherited progressive external ophthalmoplegia 10.6 POLG TWNK
9 perrault syndrome 5 10.4 MRPL43 TWNK
10 myoclonic epilepsy myopathy sensory ataxia 10.4 MIR6766 POLG
11 mitochondrial neurogastrointestinal encephalomyopathy 10.4 POLG RRM2B
12 mitochondrial dna depletion syndrome 4a 10.3 POLG POLG2 TWNK
13 ataxia neuropathy spectrum 10.3 MRPL43 POLG TWNK
14 ocular motility disease 10.3 POLG SLC25A4 TWNK
15 mitochondrial dna depletion syndrome 7 10.2 MRPL43 SLC25A4 TWNK
16 camptocormism 10.2 MIR6766 POLG RRM2B
17 diabetic polyneuropathy 10.2 POLG TWNK
18 axonal neuropathy 10.2 POLG SLC25A4 TWNK
19 mitochondrial dna depletion syndrome 1 10.2 MIR6766 POLG
20 hypogonadism 10.1
21 mitochondrial dna depletion syndrome 4b 10.0 FANCI MIR6766 POLG
22 kearns-sayre syndrome 10.0 POLG RRM2B SLC25A4 TWNK
23 ichthyosis, x-linked 10.0
24 ichthyosis 10.0
25 3-methylglutaconic aciduria, type v 10.0 POLG TWNK
26 myoclonic epilepsy associated with ragged-red fibers 9.8 POLG TFAM TWNK
27 mitochondrial myopathy 9.6 POLG SLC25A4 TFAM
28 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.4 FANCI MIR6766 MRPL43 POLG TWNK
29 mitochondrial disorders 8.5 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

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 RRM2B SLC25A4 TFAM OPA1 POLG POLRMT

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
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. ( 20880070 )
2011
3
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. ( 21519523 )
2011
4
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. ( 19705478 )
2010
5
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. ( 19853444 )
2009
6
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. ( 19664747 )
2009
7
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. ( 18971204 )
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
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. ( 15258572 )
2004
11
Two families with autosomal dominant progressive external ophthalmoplegia. ( 15258213 )
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
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8941270 )
1996
21
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8609926 )
1996
22
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 9.67 MRPL43 OPA1 SLC25A4 SLC25A6
3 mitochondrial matrix GO:0005759 9.62 POLG2 POLRMT TFAM TWNK
4 ribonucleoside-diphosphate reductase complex GO:0005971 9.26 RRM1 RRM2B
5 gamma DNA polymerase complex GO:0005760 9.16 DNA2 POLG
6 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 17)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.83 DNA2 FANCI POLG2 RRM2B
2 cellular response to glucose stimulus GO:0071333 9.61 OPA1 POLG TWNK
3 DNA biosynthetic process GO:0071897 9.57 POLG POLG2
4 nucleobase-containing small molecule interconversion GO:0015949 9.56 RRM1 RRM2B
5 DNA-dependent DNA replication GO:0006261 9.55 POLG POLG2
6 mitochondrion organization GO:0007005 9.55 OPA1 POLG2 POLRMT TFAM TWNK
7 mitochondrion morphogenesis GO:0070584 9.54 OPA1 POLG2
8 regulation of mitochondrial membrane permeability GO:0046902 9.51 SLC25A4 SLC25A6
9 mitochondrial genome maintenance GO:0000002 9.49 OPA1 SLC25A4
10 ATP transport GO:0015867 9.48 SLC25A4 SLC25A6
11 ADP transport GO:0015866 9.46 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 adenine transport GO:0015853 9.4 SLC25A4 SLC25A6
15 transcription initiation from mitochondrial promoter GO:0006391 9.37 POLRMT TFAM
16 deoxyribonucleotide biosynthetic process GO:0009263 9.32 RRM1 RRM2B
17 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 ATP:ADP antiporter activity GO:0005471 9.16 SLC25A4 SLC25A6
6 adenine transmembrane transporter activity GO:0015207 8.96 SLC25A4 SLC25A6
7 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor GO:0004748 8.62 RRM1 RRM2B

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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